Category Archives: Human Genetics

Nazira Kelly first noticed something was different about her newborn son, Ezra, when he was two weeks old. While many newborns develop splotchy red rashes that go away after a few days or weeks, Ezras skin had an unusual, swirling pigmentation. Then, when Ezra was about four weeks old, Kelly noticed that his head had grown unusually large, and he was having trouble lifting it.

A registered nurse who worked in the Labor and Delivery unit, Kelly immediately brought her concerns to his pediatrician. But a head ultrasound came back normal, and the dermatologist recommended he see a neurologist, who advised the Kellys to track Ezras head growth and other symptoms.

Kelly held onto hope that maybe these unusual symptoms would sort themselves out. Then, when Ezra was six months old, Kelly awoke at 5:30 a.m. to see her baby having a seizure.

Our lives just changed right there, she says.

Ezra was put through two rounds of genetic testing, but his condition eluded the geneticist. Over the next three months, Ezra had two more seizures but no clear diagnosis.

Around this time, the family moved from Kansas to North Carolina and set Ezra up with a new slate of specialists. It was their neurologist at Duke University Medical Center in Durham who suggested they apply to the Undiagnosed Diseases Network (UDN), a consortium of 12 academic medical centers across the country funded by the National Institutes of Health (NIH) and dedicated to combining expertise, technology, and shared data to try to solve the most challenging medical mysteries. Duke happened to be one of the networks clinical sites.

About three months after being accepted to the program, the UDN team at Duke had cracked the case. Ezra had a rare genetic disorder called Smith-Kingsmore syndrome caused by changes to the MTOR gene, which plays an essential role in cell growth and function. Only about 10 in 10,000 individuals are affected by MTOR disorders.

Although there is no cure or treatment, Kelly was relieved to finally have some answers.

In the beginning, the ocean is so vast, you dont know what to ask or where to go for information, Kelly says. The UDN really streamlined everything.

Since its inception in 2014, the UDN has reviewed more than 5,800 applications, accepted more than 2,300 participants, and discovered 50 new conditions. Its done so by bringing together a multidisciplinary team of specialists and researchers and using innovative diagnostic technologies.

The UDN has seen extensive collaborations develop between clinicians and researchers. That doesnt typically happen in a clinical setting, says Kimberly LeBlanc, MS, a genetic counselor and director of the UDN Coordinating Center at Harvard Medical School. Its been amazing to see all of these different clinicians and researchers come together to try to help undiagnosed patients.

The UDN will likely operate differently in coming years, however, as NIH funding for the network which was always intended to launch, rather than sustain, the program will sunset in June 2023.

And while the funding mechanisms and organization may change, the investigators and scientists who have pioneered the networks advancement are determined to continue to build on the UDNs success.

I dont think theres any doubt that the UDN will continue, says Vandana Shashi, MD, a pediatrician and principal investigator of the UDN clinical site at Duke. Were all committed to doing this work.

One key to the success of the UDN is its focus on leveraging cutting-edge genetic analysis and modeling, explains Brendan Lee, MD, PhD, who chairs the Department of Molecular and Human Genetics and is director of the Undiagnosed Diseases Center at Baylor College of Medicine in Houston, Texas.

While genomic sequencing has been around for decades, laboratories involved in the UDN have advanced genetic analysis capabilities, including multi-omic approaches that map out not only the patients DNA but also the molecules responsible for protein-coding and for metabolic function. They can also analyze RNA, which carries genetic information, informs gene expression, and translates different proteins into essential functions. Mapping out the patients genes with these functionalizing approaches can help to identify the disease-causing variants with more precision and sensitivity that more basic sequencing might overlook.

Sometimes things that are cryptic then become very obvious when we look directly at the RNA, says Stanley Nelson, MD, a pediatrician specializing in rare diseases and the principal investigator of the UDN clinical site at the University of California, Los Angeles David Geffen School of Medicine.

Baylor serves as the UDNs sequencing core, aiding the 12 clinical sites in the advanced genetic analyses needed to pinpoint more specific variations in the patients genes. It also hosts one of the networks two model organism screening centers, where researchers test human genetic variations in animal models specifically fruit flies, worms, and zebrafish to see how the variation may or may not contribute to disease presentation.

Depending on whether the disease-causing variants have been observed previously, diagnosis can take anywhere from weeks to years, with the UDN successfully diagnosing about 30% of the patients accepted to the program.

But the UDN never closes an undiagnosed case, says Shashi. Rather, it stores all its data analysis at the coordinating center at Harvard and maintains biological samples at the UDN biorepository at Vanderbilt University Medical Center in Nashville.

This allows us to do ongoing research into diagnoses for patients, LeBlanc says.

So as technology advances or if new patients accepted to the network shed further light on specific conditions, the UDN may be able to solve old cases with new information.

The other key to the UDNs work is its multidisciplinary, collaborative approach to each case. Once all necessary testing has been done, experts from a variety of specialties and across multiple institutions get on a call together to discuss and sometimes debate potential diagnoses.

Many times, people go to a specialist and they receive care for their heart, but not their kidney, says Nicola Longo, MD, PhD, chief of the Division of Medical Genetics at the University of Utah School of Medicine, which is one of the UDNs clinical sites. The nice thing about having a team of people is that if you have an immunological condition, we have an immunologist. If you have a kidney condition, we have a nephrologist. If you have an intestinal condition, we have a gastroenterologist. The capacity of having multiple specialists talking together and having a general practitioner or a geneticist, in our case coordinating the care of multiple specialists will ensure that we are taking care of the patient, not of a specific organ.

When managing a patient with complex needs, one issue that often hampers the patients diagnosis and care is a lack of communication among medical professionals, Lee says. Furthermore, each physician across multiple specialties, and even within the same specialty brings a distinct perspective to the case. Bringing these minds together to study cases in real time multiplies the chances of a successful diagnosis, he says.

The collaboration component is so key, Lee says. There is a maximum increase in productivity, efficiency, and brainpower.

At times, bringing together specialists from different institutions has also helped to connect the dots for extremely rare conditions by identifying multiple patients with the same or similar conditions.

Its a repository of clinical knowledge, Nelson says, explaining that he had just completed a weekly UDN call where researchers from the clinical site at the University of Washington in Seattle had presented a case that was reminiscent of a UCLA case on which Nelson was the lead clinician. Both cases involved a previously healthy teenager who suddenly began to develop abnormal movements, trouble swallowing, and difficulty finding words. Though there hasnt been a solution for either case, now the UDN can examine the cases jointly.

We can start to join these cases together to make small cohorts, Nelson says.

For Kelly, being able to put a name to Ezras condition has been life changing. After receiving the Smith-Kingsmore syndrome diagnosis, Kelly promptly Googled the condition and found a support group on Facebook. She soon became involved with the Smith-Kingsmore Syndrome Foundation and attended a conference where she was able to connect with other families of people with the condition.

When you dont have a diagnosis, you really just feel lost, and its lonely, Kelly says. Seeing these other kids [who] looked like your child physically, [I thought,] These people get me. They understood the frustration and feelings, the tears. That was exactly how I felt, those are the same things we went through. It was like finding a lost family member.

Kellys experience is not unique.

Shashi says that her patients who receive a diagnosis for themselves or a family member often feel immense relief, even without an available treatment, especially since the diagnosis allows them to connect with others who have the same condition.

I dont think anybody understands how hard it is to live without having a diagnosis, she says. We will never have a treatment if we dont know whats wrong. As one patient put it to me, For me, the diagnosis is hope.

Many patients and their families start or join foundations and advocate for research and funding, Shashi says.

Through the Smith-Kingsmore Syndrome Foundation, Kelly has helped fundraise for a postdoctoral candidate who is studying the syndrome. She doesnt expect these efforts will pay off in time to benefit Ezra, but she hopes that todays work could help children diagnosed in the future.

And this is both a great challenge and a great potential for the work the UDN does. Most of the conditions it identifies dont have known treatments or cures. Though occasionally physicians can recommend a therapy approved by the Food and Drug Administration or connect patients with a clinical trial, more often the diagnoses are only laying the foundation for further research into treatments, says Nelson.

Its not as satisfying as any of us would like, he says.

Still, he believes the UDNs progress has been accelerating in recent years.

The UDN was formed using money from the NIHs Common Fund, a mechanism intended for short-term, goal-driven strategic investments, according to its website. Although consistent NIH funding for the network will sunset next year, the NIH will continue to fund certain aspects, such as a coordinating center, through grants. The intent is to replace the UDN with a network of Diagnostic Centers of Excellence that can be sustained through different funding mechanisms, LeBlanc explains.

Four of the 12 clinical sites have paused reviewing applications for new patients, according to the UDN website. The UDN has committed to continue to analyze data for existing patients and is still reviewing all applications. Several of the clinical sites are pursuing alternative funding sources, such as institutional funding, philanthropy, and grants, in order to continue and expand on the work that the UDN facilitated.

I think all of the parts of UDN need to adapt to the reality and every site will have a different solution, Lee says. We are committed to this. We were doing it before the UDN, and we will do it in the new version of the UDN.

LeBlanc says that the coordinating center is supporting the startup of a foundation to have sustainable funding and oversight for the initiative, and Lee says he expects academic institutions will dedicate funding for the work.

The major medical centers that are engaged in gene discovery are the medical centers where people want to bring their children and their adult relatives [with undiagnosed conditions], Nelson adds.

This is such an important enterprise; [discovering] what are the genes that contribute to meaningful diseases in humans. Its a very natural integration of what our academic medical centers do well.

Excerpt from:
Solving medical mysteries: Physicians and researchers collaborate to study the most challenging cases - AAMC

Pune, Maharashtra, September 21 2022 (Wiredrelease) Market.Biz :Trends In Human Genetics Market Shaping The Industry Till 2030

The Human Geneticsindustry has seen tremendous growth over the past few years and the outlook for 2022 is positive. The industry is projected to reach trillions in the next few years.SWOT analysis For the Human Geneticsindustry will allow you to analyze this industry and determine the best ways to grow your business. This analysis also shows the best ways to prevent problems in the industry. The SWOT analysis is essential for management and other high-ranking executives.

Similarly, This SWOT analysis of the Human Genetics (pharmaceutical industry) will focus on the industrys weaknesses. This is an important part of the SWOT analysis. These are the points that often hold back the industry.

The common factor that determines the characteristics of many human-inherited traits is genes.The study of human genetics cananswer many questions about the human condition and can assist in the development of effective treatments and understanding of the genetics of human beings.

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What Are The CurrentDevelopments In TheHuman Genetics Market?

Artificial intelligence is being used more frequently by pharmaceutical and biotechnology companies for COVID-19 drug development or vaccine development. The rapid growth of healthcare data is complex and increasing complexity. Increased computing power and lower hardware costs.

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Market Segments Covered In Human Genetics Report

Segment1: Types

Cytogenetics, Prenatal Genetics, Molecular Genetics, Symptom Genetics

Segment2: Applications

Research Center, Hospital, Forensic Laboratories

Segment3: Company

QIAGEN, Agilent Technologies, Thermo Fisher Scientific, Illumina, Promega, LabCorp, GE

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Human GeneticsMarketRegionalAnalysis Trend Chart

1. North America [US] USA, Canada, Mexico]

2. Europe [U.K., Germany, France, Spain, Italy, Russia, Rest of Europe]

3. Asia-Pacific [China, Japan, South Korea, India, ASEAN, rest of Asia-Pacific]

4. Latin America [Brazil, Argentina, Rest of Latin America]

5. the Middle East and Africa [GCC, Israel, South Africa, Rest of MEA]

A Human Genetics Market Size, Share, Revenue, Demand, Growth Rate by Regions Included in the Report

Market shares are captured after the sale of each region and the volume accumulated over the forecast period. Further details on a manufacturer basis, e.g. general overview of the company, the business in terms of its current position in the Human Genetics market. Fundamental indicators such as Human Geneticsindustry competition trends as well as the market concentration rate are essential details of some of the best players in the market.

Table of Contents

1.Human Genetics Market Introduction

2. Executive Summary

3.Global Human Genetics Market Overview

3.1.Human Genetics Market Dynamics

3.2.COVID-19 Impact Analysis

3.3.COVID-19 Impact Analysis in Global Human Genetics Market

3.4.PESTLE Analysis

3.5.Opportunity Map Analysis

3.6.PORTERS Five Forces Analysis

3.7.Market Competition Scenario Analysis

3.8.Product Life Cycle Analysis

3.9.Opportunity Orbits

3.10.Manufacturer Intensity Map

3.11.Major Companies sales by Value & Volume

4. Global Market Value ((US$ Mn)), Share (%), and Growth Rate (%) Comparison by Type, 2014-2030

5. Global Market Value ((US$ Mn)), Share (%), and Growth Rate (%) Comparison by Application, 2014-2030

6. Global Market Value ((US$ Mn)), Share (%), and Growth Rate (%) Comparison by Region, 2014-2030

And More

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What Is The Most Important factor Driving The Global Human Genetics Market? - PharmiWeb.com

I have begged to just die.

Those were the words of Sadeh Sophia, a sickle cell disease patient. Although living in the UK, she suffers from the genetic blood disorder that primarily targets Africans, SCD globally affects 25 million people, mostly in equatorial countries across Africa, the Middle East and Asia. The World Health Organization reckons that circa 300, 000 people are born with sickle cell disease. There is no cure.

Sub-Saharan Africa is the diseases epicenter. As many as 40% of the population in some African countries carry the trait. About 1,000 children in Africa are born with SCD every day, and more than half will die before they reach 5 years old.

Yet, the African genome, which could yield critical clues to the development of life-saving malaria drugs and medical treatments, has been vastly understudied. How can this be changed?

The diseases affecting Africans differ significantly in severity, scope and distribution from those that affect inhabitants of other regions. These are due to a variety of factors, including genetics, economic development, political stability and even cultural norms. One example of such a disease is polio which was endemic in Nigeria, Afghanistan, parts of Asia and most countries in Africa (presently, Pakistan and Afghanistan are the only polio-endemic countries).

Malaria, transmitted by the Anopheles mosquito, which disproportionately affects Africans, is largely linked to geographical location, hygiene conditions and economic development. It claims the life of a sub-Saharan African child every two minutes. The haemoglobinopathies and sickle cell trait (HbAS) confers protection from the lethal manifestation of malaria. The vital aspect is the mutation that causes sickle cell disease which leads to a 90% risk reduction of severe Plasmodium falciparum malaria across sub-Saharan Africa.

Africa has the fastest growing and youngest population in the world, with more than 1.14 billion people. Its also the worlds poorest region, According to current population trends, with its most populous country, Nigeria, known as the worlds poverty headquarters. Although the need for advanced drugs is critical, the government and the people are too poor to afford them in the quantities necessary to make a dent in the problem. No wonder many drug makers do not consider the continent when investing in new drug development.

Advances in genetics are opening the door to addressing the African drug desert. Starting about 100,000 years ago, humans began migrating out of Africa, kick-starting a mass exodus to other parts of the world (pre-humans made their way out millions of years earlier). Today, most non-Africans trace their ancestry to their forbears in Africa. The reason why humans emigrated from the continent is not disconnected from the basic human behaviour of moving in search of resources: land, food and water became scarce as the climate changed. According to researchers who have studied various modes of migration movements, humans emigrated based on those universal needs.

The Human Genome Project, initiated in 1991 and completed 13 years later, aimed to map out the entire set of human genes to provide the world with information on the basic set of heritable factors required for the development and functioning of humans. Its been a boon to medical research and drug development. However, a focus on populations in wealthier countries has led to a lack of proper understanding of health issues that affect poor nations, most of which are in sub-Saharan Africa. Less than 2% of human genomes analysed so far have been African, notwithstanding the fact that Africa, where modern humans emerge, harbours more genetic diversity than any other continent.

Previous genomic sequencing projects have not completely captured the immense level of diversity that exists within populations throughout the region. In a bid to further unravel Africas genetic diversity, scientists from the African Society of Human Genetics, the US National Institutes of Health (NIH) and the Wellcome Trust (WT) formed a consortium that led to the founding of what is known as Human Heredity and Health in Africa (H3Africa), which seeks to understand disease susceptibility and how it affects drug responses amongst the African populace. It focused on common, non-communicable disorders such as sickle cell and heart disease, as well as communicable diseases such as tuberculosis.

H3Africa has led to the creation of biorepositories, investigation of non-communicable diseases affecting Africans and training of the next generation of bioinformaticians. Its potential to address diseases disproportionately affecting Africans is enormous.

But there are also tangible benefits to the rest of the world. One of the great mysteries of the current pandemic is why sub-Saharan Africa has emerged as a cold spot for serious COVID despite a fractured and overwhelmed medical infrastructure. Such an initiative could explain the genetic diversity and composition of sub-Saharan Africans who were less impacted from the lethal outcomes of the coronaviruscritical information about human genetic differences that could lead to the development of future treatments for non-African populations as well..

Drug discovery and development is a long, cumbersome, risky and expensive process. Recent studies show that the estimated cost for discovering and developing a drug from laboratory benches to shelves is circa $2.6 billion and rising. As an example, in cancer research, greater than 95% of drug candidates do not successfully pass the testing phases. The industry relies on blockbuster drugs revenues to fuel research future treatments and/or cures. The economics behind this model incentivizes industry players to research diseases that afflict richer nations as opposed to those which burden poorer countries. Thus, this model has seen poorer countries diseases under-studied, which leads to fewer drugs treating ailments that beset their citizens. While some pharmaceutical companies compete in doing good by donating medicines or sub-licensing them to generic firms, this altruism does not address the lack of effective medicines against infirmities that disproportionately affect the poor, the vast majority domiciled in sub-Saharan Africa.

Developing the research capacity of low- and middle-income countries (LMICs) is therefore criticalone of the main impetuses for H3Africa. Wealth is the fundamental driver of drug development, but there is a limit to which poor countries can fund basic medical research. In the US, cystic fibrosis enjoys a 75-fold upper hand in charitable funding for research compared to sickle cell disease, partly because the bulk of the SCD patients live in other regions.

But as more Africans emigrate out of the continent for greener pastures, there has been a rise in diseases common to Africa that are showing up elsewhere. Thus, it behooves philanthropists, especially those of African descent, to donate to research studies that aid in ameliorating the under-study of ailments that affect them. Now one-sixth of the people on Earth, based on current demographic trends, Africa will likely be the home to one-in-three people by 2021, thus implying a significant segment of the worlds populace will be bereft of life-saving drugs.

There is a limit to providing solutions for diseases that disproportionately burden Africans, especially those south of the Sahara Desert, by just conducting studies and collating results. Although the African Genome Project contributes greatly by outlining in depth the genomes of Africans, it does little to address the specific issue of the dearth of medicines for maladies that afflict inhabitants in the sub-region.

Researchers involved in the H3Africa understandably want to ensure that African countries retain the control of the treatments developed. There are concerns about data theft, histories of mistrusts and secrecy regarding the use of such data and samples. But it is also important that pharmaceutical companies and entrepreneurs, regardless of nationality and race, have access to the data to aid in drug development. It would be akin to throwing the baby with the bathwater to not allow access to refine treatments and help develop manufacturing and distribution capacity.

Fortunately, many companies are now entering the space, such as 54Gene, Africas top DNA research start-up, which has received venture capital of more than $45 million since its founding. Efforts are aimed at not just collating samples but developing a pipeline of drugs for conditions that afflict sufferers. Such initiatives will ensure that the genetic diversity of Africans will contribute significantly to drug discovery and development.

Uchechi Moses is an aspiring plant biotechnologist based in Akwa Ibom, Nigeria. He holds a BS in Genetics and Biotechnology and writes about how capitalism and science can provide food security and prosperity for the next generation of Africans. Follow him on Twitter @UchechiMoses_

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How Africa's genetic diversity can be harnessed to close the continent's 'drug and treatment gap' - Genetic Literacy Project

As the text of the White House Statements on the Human Genome Project in June 2000 stated: Today we are learning the language in which God created life. What is our Creators language for human lives? Why does it matter? Does the spike protein have a chance to impact them? If so, can we protect them?

The coronavirus disease 2019 (COVID-19), which has caused the worldwide pandemic, is a highly transmissible disease caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). This virus, just like all other coronaviruses, is characterized by club-like spikes that protrude from its surface.

Spike (S) glycoprotein (spike protein) is the largest of four main structural proteins of the SARS-CoV-2. And it is the only cell viral membrane protein responsible for mediating viral entry into the host cell, which is essential for the subsequent viral replication in the human body.

There are a number of studies that indicate spike protein can damage human cell mitochondria, suppress human immune system, form amyloid like proteins, and cause abnormal blood clots.

In this article, we would like to discuss the implications of Spike protein on human health from another perspective, which has been recently reported by a few researchers.

Let us first take a look at a few indicative findings of several studies focusing on COVID-19.

A recent British study discovered that the SARS-CoV-2 viruss ancestral strain (i.e. original strain), which was isolated and sequenced from Wuhan, China, can impair a patients cognitive ability in a way equivalent to making the brain age by 20 years.

In this study, which was conducted by experts from the University of Cambridge and Imperial College London Medical School, 46 participants (including 16 mechanically ventilated) that received critical care for COVID-19 in a hospital between March and July 2020 took detailed assessment, in order to evaluate the COVID-19 infections cognitive effects in humans.

The researchers discovered a significant decline in the patients attention, complex problem solving skills, and memory, along with reduced accuracy, and prolonged reaction time. These cognitive deficits are similar to the decline a person would experience between the ages of 50 to 70, which is equivalent to aging by two decades and/or losing 10 IQ points.

In a study published in 2021 in the Journal of Leukocyte Biology, researchers analyzed genome-wide DNA methylation profiles of peripheral blood from nine terminally-ill COVID-19 patients.

They discovered a distinct DNAm signature of severe COVID-19 disease that showed dramatic cell-type composition changes, hypermethylation of IFN-related genes, and hypomethylation of inflammatory genes.

The study results suggest that the SARSCoV2 virus can dramatically reshape peripheral blood and lung tissue host immune cell landscapes and may modify cellular DNA methylation (DNAm) states. And SARS-CoV-2 can possibly alter other epigenetic mechanisms such as histone modifications and noncoding RNA.

Our DNA is comprised of a sequence of many genes. Methyl groups (i.e. epigenetic factors) are clusters of hydrocarbons, which attach to strands of DNA in a biological process called DNA methylation (DNAm). DNA methylation regulates gene expression, as methyl groups act as signals along the DNA, turning genetic activities on and off. Therefore, DNAm can change the expression level of a DNA segment without changing its sequence.

Interferons (IFN) are so called because they interfere with viruses and prevent them from multiplying. They are proteins that inform our immune system that germs or abnormal cells (e.g. cancer cells) are present in our body, and trigger killer immune cells to destroy them.

Blanco-Melo et al. examined the transcriptional response to SARS-CoV-2 in in vitro infected cells, infected ferrets, and post-mortem lung samples from lethal COVID-19 patients and reported that IFN-I and -III responses are attenuated.

In addition to the level of expression of IFN-I, the timing of the IFN-I response is also a critical factor determining outcomes of infection. An early and potent cellular IFN response is vital for antiviral response, whereas a delayed IFN-I response contributes to pathological inflammation and severe outcome.

Accordingly, a timely early switch on of IFN-related genes is a critical factor for the human body to overcome the virus invasion and minimize the severe outcome of the diseases.

A research paper published in October 2021 in the journal Viruses stated that the SARS-CoV-2 viruss spike protein can impair the bodys DNA damage-repair mechanism. The researchers were also surprised to find an abundance of spike proteins in the cell nuclei.

It is well-known that only certain types of proteins can possibly be transported into a human cell nucleus, such as histones, DNA and RNA polymerases, and gene regulatory proteins. The nuclear envelope encloses the DNA by double membranes, and there are complex gatekeepers present in the nuclear membranes to prevent the entry of unwanted substances into the cell nucleus, where most DNA repair occurs.

When DNA is replicating themselves, potential errors can be made. However, fortunately, we have innate DNA self-repairing mechanisms, which act as guardians of our genes.

To their surprise once again, the studys researchers discovered that spike protein significantly suppressed the DNA self-repairing mechanisms, including homologous recombination (HR) and non-homologous end joining (NHEJ).

Furthermore, the researchers also found that the spike proteins stayed in the cell nuclei and significantly inhibited DNA damage repair by impeding key DNA repair proteins from gathering at the damage site, and by interfering with double-stranded DNA break (DSB, a principle cytotoxic lesion) repair.

The findings from the aforementioned studies indicate that the spike protein is an unusual protein that can impact the epigenetic function of our human cells.

A gene, the basic unit of hereditary material, is a chunk of coding material. It originates from the Greek word (gnos), meaning generation. The word epigenetics is composed of the prefix epi, which is derived from the Greek (eti), meaning over or around; and the suffix genetics.

Accordingly, epigenetics is the study of heritable changes in gene activity or function that doesnt involve the alteration of the DNA sequence itself. Similar to gene codes, epigenetics are another type of language used by the Creator to speak with humans.

Although virtually all cells in an organism contain the same genetic codes (DNA sequences), they do not express their genes simultaneously or in the same way, so they have totally different functions. That is, the same DNA creates different types of cells such as liver cells, kidney cells, and nerve cells, through the direction of epigenetic factors.

Epigenetic factors (methyl groups) that bind to DNA can directly turn on or turn off genes. When the genes are turned on, they can be expressed and read by the body. Otherwise, they are turned off and cannot be read by the body.

Metaphorically, methyl groups are attached to the DNA like sticky notes. DNA can be thought of as a script, which can be amended by putting on (or taking off) some sticky notes over its text.

For instance, although all honey bees share the same DNA, researchers have found over 550 genesshowing substantial methylation differences between queens and workers. Also, identical twins have the same genome, but they typically dont have the same personality, characteristics, or even diseases. These differences can be explained by epigenetics.

Thus, DNAm is vital to some cellular processes of our human body, including embryonic development, X-chromosome inactivation, genomic imprinting, and chromosome stability. Abnormal DNA methylation may lead to several adverse outcomes, including malignant tumor, neurological and immunological diseases, atherosclerosis, and osteoporosis.

Changes in epigenetic factors may ultimately determine whether or not a person has a particular disease. So why does the COVID-19 infection cause abnormal aging in the first study mentioned at the very beginning? To answer this question, we have to explore the various impacts of what spike protein, regardless of the virus or the vaccine, could do to human health.

The aging process is regulated by epigenetic factors. Due to scientific advancements, biomarkers of aging based on DNA methylation data can be used to accurately estimate the age of tissues.

A genome-wide DNA methylation study published in April 2022 in the journal Nature Communications collected whole blood samples from 232 healthy individuals, 194 non-severe COVID-19 patients and 213 severe COVID-19 patients. Researchers discovered that the epigenetic age of COVID-19 patients was significantly accelerated. This result may shed some light on the fact that the COVID-19 infection can make our brain age by two decades.

In addition, epigenetic modifications have been found to be important players in the pathogenesis of Alzheimers disease (AD), which is the most common type of dementia. Extensive research has suggested DNA methylation plays an important role in the course and development of AD.

Since a COVID-19 infection can leave patients with neurological and psychiatric sequelae for a period of time after recovery, a team researchers from the University of Oxford and University of Cambridge performed an analysis of 2-year retrospective cohort studies by examining the medical records of 89 million patients, including both COVID-19 patients and patients with other respiratory diseases at a ratio of 1:1.

Matching was done on the basis of demographic factors, risk factors for COVID-19 and severe COVID-19 illness, and vaccination status. Analyses were stratified by age group and date of diagnosis. It is a pity that the detailed vaccination data of the study subjects are not well disclosed; whereas the prevalence of vaccination was low in both cohorts, which was probably under-reported in this study.

Nevertheless, it was discovered that throughout the 2-year follow-up period, COVID patients were persistently at an increased risk of psychiatric disorder, cognitive deficit, dementia, and epilepsy or seizures.

Recent intensive genomic sequencing of hematopoietic malignancies has identified the central role that aberrant epigenetic regulation plays in the pathogenesis of these neoplasms.

American pathologist Dr. Ryan Cole, founder of Cole Diagnostics, has discovered an abnormal increase in certain cancer cases after the COVID-19 vaccines were introduced, including childhood diseases in adults and rare cancers. At the same time, he has also noted an increase in all-cause deaths among vaccinated individuals compared to unvaccinated individuals.

In a similar situation, after COVID-19 vaccination started to be implemented in mainland China, as of early June 2022, at least 845 people had been reported to have hematological malignancies, with an age range from 1 to 80 years.

Furthermore, coexisting COVID-19 infection and hematological disorders have also been shown by several reports. The authors of a study published in the journal Archives of Academic Emergency Medicine were greatly concerned by the possible link between the COVID-19 infection (or the medicines used in the treatment) and the risk of developing acute leukemia.

According to multiple studies, the association between both long noncoding RNAs and microRNAs and the development of cardiovascular diseases has been confirmed. RNA (ribonucleic acid) plays a central role in turning genetic information into proteins in our body.

As per a British study with participants over 13 years of age, the risk of myocarditis is greater after SARS-CoV-2 infection than after COVID-19 vaccination. However, the risk of myocarditis after vaccination is higher in young men. Some of the vaccines used in the UK are mRNA-based, including Pfizer and Moderna vaccines.

The link between epigenetics and autoimmunity has already been well-documented in scientific literature. Epigenetic changes, such as DNA methylation and noncoding RNAs, have been discovered to play a role in the pathogenesis of autoimmune diseases, mainly by regulating gene expression.

The medical community is becoming increasingly aware of vaccine-induced autoimmune diseases involving liver, heart, and nervous system, among others.

In a case published in April 2022 in the Journal of Hepatology, a 52-year-old German man developed acute hepatitis twice after receiving two doses of Pfizer mRNA vaccine. He was tested positive for autoimmune markers, and his doctor later noticed a strong correlation between the onset of hepatitis and his vaccinations, which made the latter suspect that the liver injury was caused by the vaccine.

In another case from Spain,a 41-year-old woman, who received the Moderna mRNA vaccine, was diagnosed withvaccine-induced autoimmune liver injury, along with severe cholestasis.

Based on the vaccine induced multiple systemic adverse events and basic research on spike protein, all of this has indicated that the spike protein is likely to play a role in damaging our gene guardiansour DNA self-repair mechanisms.

Currently, a majority of the world population has received at least one dose of a COVID-19 vaccine and the 3rd and 4th booster program is being proposed again, regardless of the fact that the recent mutant virus strains have become less lethal.

Under these circumstances, in order to protect our health better, what can we do to better protect our gene guardians, so as to protect our genes?

As the text of the White House Statements on the Human Genome Project in June 2000 stated, Today we are learning the language in which God created life. Both genes and epigenetics are our Creators language for human lives. To protect them, we may have to rediscover our traditional ways of living, as the tradition is our Creators guidance on how to live healthily.

Mindful practices have long been suggested to promote well-being by producing a state of body relaxation and inner silence, i.e., a state of quiet mind and emotions characterized by the absence of recurring thoughts, images, and emotional fluctuations.

Mind-body therapies (MBTs), such as mindfulness, sitting in meditation, yoga, and tai-chi, have been proven to be able to improve our quality of life by reducing stress. MBTs have also been discovered to epigenetically affect our genes.

For instance, studies have found that the methylation of the tumor necrosis factor gene can significantly decrease among women who perform yoga.People who sit in meditation can experience a significant alteration in various modifications of histone deacetylase enzymes and their gene expression patterns. Long-term meditators can even enjoy the benefit of having slower biomarkers of aging, and methylation in genes associated with immune cell metabolism and inflammation. Therefore, MBTs can potentially serve as therapeutic treatments and preventative measures used to affect the epigenetics of an individual, as well as an addition to Western medicine.

In 2021, the World Health Organization (WHO) also recommended meditation as a rehabilitation method for COVID-19 patients. Also, there seems to be a degree of international consensus that meditation is helpful for people recovering from the side effects of COVID-19 vaccines and COVID-19 sequelae (pdf).

Meditation has also been found to have the following benefits:

According to a large-scale genome study published in the Proceedings of the National Academy of Sciences (PNAS), meditation activated the participants immune system, with a total of 220 immune genes being upregulated, including 68 genes related to interferon and belonging to the innate immune mechanism. In this study, there is a highly likely role of meditation on these gene guardians.

Therefore, in order to better protect our gene guardians, we should give mind-body therapies a try.

References

Coronaviruses: An Updated Overview of Their Replication and Pathogenesis

The Coronavirus Spike Protein Is a Class I Virus Fusion Protein: Structural and Functional Characterization of the Fusion Core Complex

Multivariate profile and acute-phase correlates of cognitive deficits in a COVID-19 hospitalised cohort PMC

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8013321/?report=reader

DNA Methylation and Its Basic Function | Neuropsychopharmacology

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7227586/?report=reader

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7104995/?report=reader

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7402635/?report=reader

SARSCoV2 Spike Impairs DNA Damage Repair and Inhibits V(D)J Recombination In Vitro

DNA Methylation and Its Basic Function | Neuropsychopharmacology

The Honey Bee Epigenomes: Differential Methylation of Brain DNA in Queens and Workers PMC

Epigenetics of discordant monozygotic twins: implications for disease | Genome Medicine | Full Text

DNA hypermethylation in disease: mechanisms and clinical relevance PMC

DNA methylation-based biomarkers and the epigenetic clock theory of ageing | Nature Reviews Genetics

Accelerated biological aging in COVID-19 patients | Nature Communications

Epigenetics of Alzheimers Disease PMC

https://genesdev.cshlp.org/content/30/18/2021.long

Dr. Ryan Cole: Alarming Cancer Trend Suggests COVID-19 Vaccines Alter Natural Immune Response

New Analysis of 845 COVID Jab-Related Leukemia Cases Sheds More Light on Post-Jab Cancer Uptick Warnings

A Case of Acute Leukemia Following Remission of COVID-19 Infection; an Urge to Search for a Probable Association PMC

The novel regulatory role of lncRNAmiRNAmRNA axis in cardiovascular diseases PMC

Risk of Myocarditis After Sequential Doses of COVID-19 Vaccine and SARS-CoV-2 Infection by Age and Sex

The emerging role of epigenetics in human autoimmune disorders

https://www.theepochtimes.com/explaining-covid-19-vaccine-induced-autoimmunity-hepatitis-and-healing_4460668.html

SARS-CoV-2 vaccination can elicit a CD8 T-cell dominant hepatitis Journal of Hepatology

Another case of autoimmune hepatitis after SARS-CoV-2 vaccination still casualty? Journal of Hepatology

Coronavirus (COVID-19) Vaccinations Our World in Data

The code, the text and the language of God PMC

Molecules of Silence: Effects of Meditation on Gene Expression and Epigenetics

The potential positive epigenetic effects of various mind-body therapies (MBTs): a narrative review

Epigenetic clock analysis in long-term meditators PMC

Support for rehabilitation self-management after COVID-19-related illness

A New Era for MindBody Medicine PMC

https://www.pnas.org/doi/epdf/10.1073/pnas.2110455118

Views expressed in this article are the opinions of the author and do not necessarily reflect the views of The Epoch Times. Epoch Health welcomes professional discussion and friendly debate. To submit an opinion piece, please follow these guidelines and submit through our form here.

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Is the Spike Protein Changing Our Gene Expression? - The Epoch Times

WASHINGTON: In the most recent large-scale genomic research of musicality, 69 genetic variations related to beat synchronization--the capacity to move in time with the beat of the music--were discovered.

A global team of researchers led by the Vanderbilt Genetics Institute and 23andMe showed that the ability for humans to move in time with the beat of music (known as beat synchronisation) is partially encoded in the human genome. The results were released in the journal Nature Human Behaviour.

According to co-senior author Reyna Gordon, PhD, associate professor in the Department of Otolaryngology-Head and Neck Surgery, and co-director of the Vanderbilt Music Cognition Lab, many of the genes connected to beat synchronisation are involved in central nervous system function, including genes expressed very early in brain development and in areas underlying auditory and motor skills.

According to Gordon, "rhythm is not only impacted by one gene; it is influenced by many hundreds of genes." The essence of human musicality is the ability to tap, clap, and dance in time to the rhythm of the music. The study also discovered that beat synchronization shares some genetic architecture with other traits, including biological rhythms such as walking, breathing and circadian patterns.

"This is novel groundwork toward understanding the biology underlying how musicality relates to other health traits," said co-senior author Lea Davis, associate professor of Medicine."

23andMe's large research dataset provided study data from more than 600,000 customers who consented to participate in the research allowing researchers to identify genetic alleles that vary in association with participants' beat synchronization ability.

According to David Hinds, PhD, a research fellow and statistical geneticist at 23andMe, "the enormous number of consenting study participants presented a unique chance for our group to collect even minor genetic signals." The scientific understanding of the relationships between genetics and musicality has advanced thanks to these discoveries.

Research associate professor and study's first author Maria Niarchou, PhD, stated the findings "established new linkages between the genetic and neurological architecture of musical rhythm, thus expanding our understanding of how our genomes tune our brains to the beat of the music."

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Ability to move to the pulse of music has genetic link - DTNEXT

Humans all share a common African ancestry, making African history everyones history. Yet little is known about the genetic evolution of people living on the continent in the distant past.

Thanks to advances in genome sequencing technology, scientists are now able to compare the DNA of people alive today with DNA extracted from very old skeletons, giving us a unique snapshot of life in Africa from many thousands of years ago.

In the field of human genetics, the story of Mother Eve is a familiar one. It describes how all living humans descend from one woman who lived in Africa 200,000 to 300,000 years ago.

Evidence comes from studies of mitochondrial DNA (mtDNA) a segment of genetic material found in the human cell. Amongst other things, it permits the study of relatedness in populations. Because only mothers pass it down, it reveals the direct evolutionary line between a person living today and their most distant female ancestor.

But like most simple stories, the tale of mitochondrial Eve is neither entirely accurate nor complete. While scientists agree that the dawn of humans did indeed occur in Africa, Eve would have been one of many human females living at the time, and she would not have been the first.

Unfortunately, the reality is that mtDNA gives us limited insight into the timelines, or the patterns, of population spread and dispersal.

Molecular biologist Dr Mateja Hajdinjak explains the significance of this knowledge gap. African population history has shaped the world we all live in, so until we can reconstruct the events from Africas past, going back thousands of years, we cant fully understand how modern humans emerged.

Dr Hajdinjak is the post-doctoral researcher on the ORIGIN project, an EU-funded research initiative based at the Francis Crick Institute in London, UK that is analyzing DNA from human remains found in archaeological sites in Africa.

The goal of ORIGIN is to reconstruct African prehistory using ancient DNA analysis.

The information yielded from these DNA samples is being studied alongside the findings of the projects archaeologists, palaeontologists and museum curators.

Dr Hajdinjak is among a growing number of researchers working hard to fill in the historical blanks by moving beyond analysis of mtDNA to use the latest techniques in whole genome sequencing. This allows researchers to compare the DNA of people living today with DNA extracted from very old skeletons.

One of our basic questions is, how can we use ancient DNA to reconstruct past population migrations within Africa and between Africa and other parts of the world? said Dr Hajdinjak.

She adds that little is known about the past genomic landscape across Africa, as much of the genetic change occurred on the continent when some groups shifted from their hunter-gatherer way of life to become agriculturalists between 3,000 and 7,000 years ago.

By comparing past genomes, we can see how different human groups are interconnected, and how migrations happened at different times in history. Migrations allow people to mix and reproduce with new groups, which changes human biology over time.

A lot is already known about ancient European history thanks to modern sequencing techniques, but ancient DNA studies of African samples have lagged behind. The reason for this is that DNA degrades over time, and especially in the hot and humid climates that prevail in Africa.

However, thanks to cutting-edge genome enrichment tools that allow DNA from the tiniest fragments of bone or teeth to be extracted and then amplified, scientists are starting to make good progress sequencing ancient DNA from Africa too.

By studying the data in this way, the researchers are starting to reconstruct events from the distant past and to probe the relationships that emerged between different African populations.

The aim of ORIGIN is not simply to satisfy our natural curiosity about where we came from, but also to unravel the timeline of our genetic evolution, and to use this information to predict how we might evolve into the future.

Some genetic mutations will have been instantly beneficial to our African ancestors, and will have persisted through the gene pool to this day, thousands of years after they first arose. A key example is lactase persistence the ability to digest milk into adulthood.

Milk and milk products are a valuable source of energy, yet the default ancestral state is lactose intolerance. For adults living in early African farming communities, the ability to convert milk from their herds into glucose may have given them an evolutionary advantage over their lactose intolerant neighbors.

Another genetic variant that would have boosted human survival when it first emerged is the sickle cell mutation. This genetic variant confers a degree of protection against malaria.

However, the mutation is something of a double-edged sword, as it is also responsible for sickle cell disease a serious and life-long condition that is prevalent in parts of Africa to this day.

It would be very important to reconstruct how sickle cell mutations first appeared and spread, said Dr Pontus Skoglund, supervisor of the ORIGIN project.

By understanding when mutations happened and how they spread, we can better understand how humans respond to evolutionary challenges, said Skoglund.

Researchers involved in the EU-backed AfricanNeo project are particularly intrigued by early farming practices in Africa. They are comparing samples of ancient DNA with contemporary DNA to refine their understanding of when African populations started migrating across their continent.

These migrations had a huge impact on the genetic mixing of groups, but the researchers are finding that this expansion was a complex series of events that cannot be encapsulated into a neat mitochondrial Eve-style narrative.

Expansion was not uniform across the continent, said Associate Professor Carina Schlebusch. She is an evolutionary biologist at the University of Uppsala in Sweden and principal investigator of the project.

Some hunter-gatherer groups were replaced by farmers, she said, referring to the likelihood that conflict would have arisen between populations wanting to occupy the same land, and that farmers would have enjoyed a competitive edge over hunter gatherers. Other groups interacted and exchanged genes, and others still remained isolated for far longer than you might expect.

Its clear why we should all care about these complex events from Africas distant past, according to Dr Schlebusch.

History tends to repeat itself, she said. These past migratory events may well play a role in how we behave in our future. For example, climate change means there is likely to be more pressures on people who are forced to leave their homes. There is a chance there will be more conflicts between populations and that some minority groups will be replaced.

The more we learn about our history, she said. The more we can predict how things will work out in the future.

The research in this article was funded via the EUs European Research Council and the Marie Skodowska-Curie Actions (MSCA). The article was originally published on Horizon, the EU Research & Innovation magazine.

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How prehistoric DNA is helping to unlock the secrets of human evolution - EL PAS USA

Artificial intelligence (AI) and big data are transforming healthcare with high-throughput analyses of complex diseases. Machine learning and sophisticated computational methods can be used to efficiently interpret human genomes and other biomarkers, providing insights for patient treatment and with major applications in diagnostics and preventive care.

A personalised treatment plan may include preventive care for diseases that are at a higher risk of developing, for example increased screening for cancer if a patient possesses the BRCA 1 or BRCA 2 gene mutation. Additionally, AI can generate insights from genetic information, biomarkers, and other physiological data to predict how a patient will respond to different treatment options, which may help avoid adverse reactions, reduce the use of expensive or unnecessary treatments on patients that are unlikely to respond, and ultimately reduce hospitalisation and outpatient costs. For more information, GlobalDatas latest report, Precision and Personalized Medicine Thematic Research, provides insight into the most prevalent uses of personalised medicine, new applications, and the healthcare, macroeconomic, and technology themes driving growth.

Big data and bioinformatics can also offer human-centred data to be used for early drug research in lieu of, or in combination with, conventional methods like cell or animal models. This could help streamline the drug discovery process by reducing the time and money spent on inviable drug candidates, especially for conditions that translate poorly between animal models and humans. For example, laboratory mice have historically been utilised in early phase drug trials but are a poor model for genetic diversity and age-related diseases in humans. So, treatments for neurodegenerative and other age-related conditions could greatly benefit from the inclusion of human genetics in research and development (R&D).

The field of oncology has been the most accepting of personalised medicine, though other areas of medicine could greatly benefit from this medical model. Still, major barriers to commercialisation and access are funding and reimbursement. Stockholders want to invest in therapies that have a large patient pool and payers are hesitant to reimburse patients for novel diagnostic tests and treatments that lack the positive clinical data of traditional one-size-fits-all approaches. However, we could see interest in the sector resurge as increasing market competition and advances in technology rapidly drive down the cost of genetic sequencing. Physiological data is also more comprehensive and accessible than ever due to the recent growth of remote patient monitoring devices and wearable tech from the Covid-19 pandemic.

Furthermore, companies are collaborating to reduce development costs and share patient data for research. Recently, Valo Health Inc., a medical technology company, and Kahn-Sagol-Maccabi (KSM), a research and innovation center, announced they will perform joint studies utilising KSMs Tipa Biobank of more than 800,000 samples and Valos drug discovery and development platform Opal. The Tipa Biobank stores live samples, with plans to continue collecting genetic samples from the same subjects over their respective lifetimes. The collaboration provides an opportunity to utilise the growing patient data sector to capitalise on the race to get AI-designed drugs to market and could give Valo/KSM a competitive edge for developing treatments in oncology and for neurodegenerative diseases. Industry collaborations between big market players may also reassure healthcare payers that personalised technology is worth the investment, improving funding and patient identification for new trials and treatments.

Genetic and physiological data can help paint a clearer picture of overall patient health, and it is expected that the demand for preventive medicine will continue increasing as people live longer and the global elderly population grows. Looking to the future, precision and personalised medicine has the potential to expedite drug discovery, improve disease screening, and predict patient responses to treatment options, leading to improved quality of care and reduced overall healthcare costs.

Professional Partner for Battery Solutions in the Medical Industry

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Personalised medicine and the advantages of big data and AI-based diagnostics - Medical Device Network

The Republican Party has created quite a political and scientific mess in its chaotic and contradictory legislative maneuverings in the wake of the overturning of Roe v Wade. Sen. Lindsey Graham spent much of the last weekdefending his proposed federal ban on all abortionsafter 15 weeksa law that also allows any state to set even more restrictive standard, including refusing to allow a woman to terminate a pregnancy in cases of incest or to protect her health.

The proposal was seen by many as an attempt to deflect growing concerns that Republicans are out of step with most Americans who want to preserve some version of choice in every state.

Grahams proposal to try to deflate the backlash against Dobbs has drawn criticism and even ridicule from the right and the left, both of whom call it ham-handed but for different reasons.

Senate Minority Leader Republican Mitch McConnell, referencing the ban, said that most of the members of my conference prefer that this be dealt with at the state level which in Republican-dominated states mostly means complete bans even in cases of incest or health complications.

Democrats were no less incensed. House speaker Nancy Pelosi called Grahams proposal the latest, clearest signal of extreme MAGA Republicans intent to criminalize womens health freedom in all 50 states and arrest doctors for providing basic care. Make no mistake: if Republicans get the chance, they will work to pass laws even more draconian than this [Graham] bill just like the bans they have enacted in states like Texas, Mississippi and Oklahoma.

The over-riding issue for most Americans is government overreach, once a sacred conservative principle: Republicans are increasingly inserting of the government into the private relationship between patients and their clinicians in guiding health decisions, says the American College of Obstetrics and Gynecology in a joint statement representing more than 75 health care organizations:

Abortion care is safe and essential reproductive health care. Keeping the patientclinician relationship safe and private is essential not only to quality individualized care but also to the fabric of our communities and the integrity of our health care infrastructure. As leading medical and health care organizations dedicated to patient care and public health, we condemn this and all interference in the patientclinician relationship.

Ive published 38 editions of several college life science textbooks since 1982. All have covered human prenatal development and assisted reproductive technologies (ARTs).

My books have chronicled the progress in reproductive medicine: from Louise Joy Brown, the first test tube baby; through the fading of amniocentesis as checking circulating fetal DNA offered a far less invasive way to detect extra chromosomes; to selecting the earliest embryos for one or two free of a familys disease-causing mutation, circumventing a lethal legacy.

Im now revising the final chapter of the fourteenth edition of my human genetics textbook, entitled Reproductive Technologies. Its a crazy time to be doing that.

I read most of the decision, to reach my own conclusions. I was astonished at how profoundly the justices skirt the health field that bloomed into existence with Louise Joy Brown four decades ago. I dont pretend to know anything about the law. How can the justices presume medical expertise in telling a woman what she can and cannot do to her body, with such hubris?

The tone of the Supreme Court decision stunningly evokes the thinking of another century and I dont mean the twentieth.

About halfway through the213 pages, seeing no words from modern reproductive medicine, I started doing word searches to speed things up.

A search forin vitro fertilization called up one mention, but in the dissent. Actual. Medical. Facts.

Further, the Court may face questions about the application of abortion regulations to medical care most people view as quite different from abortion. What about the morning-after pill? IUDs? In vitro fertilization? And how about the use of dilation and evacuation or medication for miscarriage management?

Next I searched for a fundamental distinction in developmental biology: embryo versus fetus.

Embryogets 3 hits in the decision. The first is part of embryology in a footnote. More telling is the second mention, part of a quote within a quote (In contemplation of law life commences at the moment of quickening, at that moment when the embryo givesthe first physical proof of life, no matter when it first received it, emphasis added). Thats from an 1872 decision The third mention of embryo is as part of Embryos in the title of a paper cited in a footnote. Not a lot of coverage.

Embryos by definition do not yet have rudiments of all body parts. The period of the embryo extends from fertilization (aka conception) to the end of the 8th week. Obstetricians and politicians count the weeks from the last menstrual period, which tacks on two non-pregnant weeks at the start. Maybe thats because 40 weeks is easier to remember than 38 weeks. More likely, perhaps the erroneous timetable is a legacy from when most obstetricians and politicians were people who could not become pregnant.

In the decision, a word search for fetus brings 54 hits, compared to the 3 indirect ones for embryo, although most abortions are in fact done on embryos. The 2019CDC Abortion Surveillance finds that the majority of abortions took place early in gestation: 92.7% performed at 13 weeks gestation; a smaller number of abortions (6.2%) at 1420 weeks gestation, and even fewer (<1.0%) at 21 weeks gestation.

Next I searched for terms familiar to people seeking reproductive health care. It was enlightening.

First, I looked for mention of some stages of early development beyond the familiar embryo and fetus:

0 hits each for zygote, blastocyst, and inner cell mass.

Then I looked for ARTs other than the lone IVF mention:

0 hits each for gamete intrafallopian transfer (GIFT), preimplantation genetic diagnosis (PGD), and zygote intrafallopian transfer (ZIFT).

I began to think of Dean Wormers comment to John Belushis character Bluto Blutarsky in Animal House abouthis grade point average: Mr. Blutarsky. ZERO POINT ZERO.

The decision mentions the stages of prenatal development in very vague terms, focusing at great length on quickening, when a woman first feels fetal movement. Its all from an historical perspective. And that is a part of pregnancy that a man might imagine. He might wax less sentimental over the barfing, exhaustion, back pain, and labor.

What terrifies me the most is that repealing Roe v Wade doesnt affect just those seeking abortion services. Consider a woman having a miscarriage.

My word search for miscarriage brought up 66 references to the phrase procure the miscarriage.The two instances of produce abortion or miscarriage reveal that procure the miscarriage is doublespeak for abortion. Thats dangerous, because the two drugs used to safely manage a miscarriage are the same used to induce abortion. Ditto the scraping of the uterine lining. The dissent reminds of these facts.

What effect will the decision have on a woman experiencing a spontaneous abortion in a state that doesnt allow the treatment she needs? Will a woman in those states entering a clinic with bleeding and cramping become a criminal suspect? In Alabama, for example, performing an abortion is a Class A felony a provider faces from 10 to 99 years in prison. InTexas, treating infection in a pregnant woman may be delayed because doctors fear punishment, even if they know that live birth is impossible, risking septicemia or even death of the woman.

No one facing a medical crisis should have to fear their physician pausing, or even halting, when in the midst of doing what the patient needs in order to resolve or avoid the threat of prosecution, said Jen Villavicencio, MD, representing the American College of Obstetricians and Gynecologists. Imagine that happening during cardiac bypass or an appendix removal. Or vasectomies, which are unsurprisingly on the rise in the wake of the decision.

Villavicencio also questions the judges expertise to rule on medical matters, reaching the same conclusions that I did:

The individuals writing these laws are not medical experts. Laws like abortion restrictions and bans are not based in science or evidence and, therefore, the language does not coincide within the practice of the highest quality, evidence-based care. The language is often incorrect, not clinically meaningful, and therefore confusing to those practicing medicine Pregnancy, complications of pregnancy, and the treatment of those complexities require nuanced, individualized caresomething that is very difficult when faced with unscientific, non-medical laws.

In vitrofertilization is also complex, requiring nuanced, individualized care. Its painful (daily injections) and drawn out over weeks, with a few months off between attempts. Several embryos must be created in order for one or sometimes two to divide enough times to transfer to a womans uterus. The embryo then is a blastocyst, a hollow ball of cells not the comma-shaped tiny humanoid that some might envision, nor the magnified, mangled fetuses that festoon anti-abortion placards meant to terrorize women at a traumatic time of their lives.

In an increasingly common procedure done with IVF to up the odds of success, a blastocyst cell is removed and tested for mutant genes. If its free of the mutation, the remaining still-microscopic blob is transferred to the womans uterus. This procedure is called preimplantation genetic diagnosis, or PGD.

The first case of IVF with PGD enabled a family to conceive a child who did not inherit the cystic fibrosis that both parents carried. That was 30 years ago.

Extra embryos generated through IVF, with or without PGD, may be donated to other women, for research, discarded, or frozen. More than a millionhuman embryos are currently frozen. Whats to be done with the ones in states where women cant choose what happens to their bodies? Charge the women with a crime? Charge the men, who contributed one genome copy to each cell of each embryo on ice? Fine them? Lock them up? Or defrost thousands of embryos in suspended animation? Then what?

Katie Moser has the mutation that causes Huntingtons disease. She wants to have a child that doesnt inherit the mutant gene, and IVF with PGD could make that happen.

TheNew York Timeshas chronicled Katies experience and shes told her story as an advocate for people with movement disorders. Shell likely develop symptoms before age 50. She turns 41 on July 14 also Woody Guthries birthday, perhaps the most famous person to have HD.In 2011, Katie underwent two rounds of IVF. Eighteen embryos resulted, eight viable. But they all had inherited the HD gene.

HD is dominant, so the embryos arent just carriers. Theyre destined, and so hold clues to the earliest manifestations of the disease. Thats why Katie donated them for research a decade ago to researchers in another state. How will the abortion decision affect the transport of genetically-doomed frozen IVF embryos? Will flights need to be rerouted over states with more liberal laws, like people carrying cannabis on planes, avoiding the forbidden zones? That may sound like the Planet of the Apes, but its what the US is becoming, in terms of reproductive rights: a mosaic of forbidden zones.

Katie Moser had genetic testingbecause she knew she has a family history of a single-gene disease. Millions of pregnant women have geneticscreening, which means without such a history, with a simple blood test,NIPT(noninvasive prenatal testing).

NIPT is done after 9 weeks, in obstetric-speak. If the number of fetal DNA pieces corresponding to a chromosome far exceeds or is below the number of maternal pieces, then the fetus has an extra or missing chromosome, respectively.

The test has replaced much more invasive amniocentesis and chorionic villus sampling. A bad result an extra chromosome 13 or 18, for example, which rarely leads to a live birth brings up the choice to end the pregnancy. Will overturning Roe force women in some states to endure a pregnancy with a near 100 percent likelihood of ending in tragedy? Yes.

The dissenting opinion from justices Breyer, Sotomayor, and Kagan directly addresses the issue of a fetus with a hopeless diagnosis:

So too, after todays ruling, some States may compel women to carry to term a fetus with severe physical anomaliesfor example, one afflicted with Tay-Sachs disease, sure to die within a few years of birth.

Again, medical facts and details.

I looked through the final chapter of my human genetics textbook, Reproductive Technologies. I will not allow the Roe v Wade reversal to impact my coverage of this essential information.

The chapter opening case history is true, about a couple seeking IVF with PGD to select an embryo free from the devastating brain disease for which they are each carriers, as well as for a clotting abnormality the man has. If they select a disease-free embryo, what will happen to the others?

The first section of the chapter discusses savior siblings, relating the famous story of Adam Nash. He was chosen, as an 8-celled-embryo, to be transferred to his mother-to-bes uterus so that he could eventually donate umbilical cord stem cells to save his 6-year-old sister Molly from Fanconi anemia. Adam did not inherit the mutant genes and was a perfect tissue match for Molly. He was born in 2000 this technology is hardly too new for the justices to be unaware.

After the section on IVF, my book covers the aforementioned GIFT and ZIFT. Both are used to treat infertility.

In GIFT, a few eggs are retrieved and introduced with sperm into a fallopian tube, past a blockage. Fertilization takes place in vivo, so theres nothing to outlaw. (And of course donating eggs is painful; donating sperm, well, not so much.)

In ZIFT, sperm meet eggs in a dish, like regular IVF, and then a fertilized ovum is placed into the tube. In regular IVF, it divides a few times first.

So, a physician who fumbles and drops the pipette bearing the precious cargo of GIFT is just making a mess. But a physician who drops the pipette bearing a fertilized ovum is committing murder, ending the life of an unborn child, albeit one who is just one cell.

The slippery slope that comes with this archaic, religion-tainted Supreme Court decision is going to cost many postnatal lives.

The dissenting opinion sums up the situation:

The majoritys refusal even to consider the life-altering consequences of reversing Roe and Casey is a stunning indictment of its decision. With sorrowfor this Court, but more, for the many millions of American women who have today lost a fundamental constitutional protectionwe dissent.

Ricki Lewis has a PhD in genetics and is a science writer and author of several human genetics books.She is an adjunct professor for the Alden March Bioethics Institute at Albany Medical College.Follow her at herwebsiteor Twitter@rickilewis

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Viewpoint: In the post Roe v Wade world, what changes should a biology textbook writer make to address the medical repercussions of Dobbs? - Genetic...

PULLMAN, Wash. Feeding honey to hibernating bears helped Washington State University researchers find the potential genetic keys to the bears insulin control, an advance that could ultimately lead to a treatment for human diabetes.

Every year, bears gain an enormous amount of weight, then barely move for months, behavior that would spell diabetes in humans, but not for bears whose bodies can turn insulin resistance on and off almost like a switch. In the hunt for the bears secret, scientists at WSU observed thousands of changes in gene expression during hibernation, but now a research team has narrowed that down to eight proteins.

There seem to be eight proteins that are working either independently or together to modulate the insulin sensitivity and resistance thats seen in hibernating bears, said Joanna Kelley, a WSU evolutionary geneticist and corresponding author of the study published in iScience. All of these eight proteins have human homologues. Theyre not unique to bears. The same genes are in humans, so that means maybe theres a direct opportunity for translation.

The research team analyzed changes in bear cell cultures that were exposed to blood serum drawn from grizzly bears housed at the WSU Bear Center. Both the cells and the blood serum were taken from the bears during active and hibernating seasons as well as from an interrupted hibernation period when researchers fed the bears honey-water.

In the lab, the researchers combined different cell cultures and serums, such as a cell culture from a hibernation season with serum from the active season, to analyze the genetic changes that occurred.

Through all the combinations, it was the serum from the mid-hibernation feeding period that helped the most in identifying the key proteins.

By feeding the bears just for two weeks during hibernation, it allowed us to control for other things like daylength and temperature as well as food availability, Kelley said.

Bears do typically get up and move a little during hibernation, but they usually do not eat, urinate or defecate. The researchers used these waking moments to offer the bears honey-water, one of their favorite treats, as part of another study, which found the extra sugar did disrupt their hibernation behavior. Kelley and her colleagues then used the samples from that study period to do their genetic analysis.

When the researchers put the serum from the disrupted hibernation onto a cell culture taken from regularly hibernating bears, they found that those cells started to exhibit changes in gene activity similar to that of active season cells.

Next, the team plans to investigate how those proteins specifically work to reverse insulin resistance, research which could ultimately lead to the development of ways to prevent or treat human diabetes.

This is progress toward getting a better understanding of whats happening at the genetic level and identifying specific molecules that are controlling insulin resistance in bears, said Blair Perry, the studys co-first author and a WSU post-doctoral researcher.

The tools for understanding genetics are becoming more sophisticated, and recently Kelley, Perry and their colleagues published an updated genome assembly for brown bears, of which grizzly bears are a subspecies. This more complete, contiguous genome may help provide even better insights into bear genetics including how they manage hibernation.

Theres inherent value to studying the diversity of life around us and all of these unique and strange adaptations that have arisen, said Perry, who has also studied the genetic makeup of snake venom. By understanding the genomic basis of these adaptations, we gain a better understanding of what we share with other species, and what makes us unique as humans.

Other researchers on this study include co-first author Michael Saxton along with co-authors Brandon Evans Hutzenbiler, Shawn Trojahn, Alexia Gee, Anthony Brown, Omar Cornejo, Charles Robbins and Heiko Jansen all of WSU as well as Michael MacCoss, Gennifer Merrihew and Jea Park of University of Washington.

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Bears' ability to regulate insulin narrowed down to eight proteins WSU Insider - WSU News

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WHAT: University of Nebraska at Kearney Science Caf

HOSTED BY: Sigma Xi, The Scientific Research Honor Society

TITLE: The Russian Flu, 1889-94, A Lost Coronavirus Pandemic?

TOPIC: UNK faculty members Kim Carlson and Doug Biggs will discuss the Russian Flu, its spread and whether it was actually the first coronavirus epidemic.

PRESENTERS: Carlson is a professor and co-chair in the UNK Department of Biology focusing on molecular genetics and teaching introductory and human genetics, as well as bioethics. She received her bachelors and masters degrees in biology from UNK and a doctorate in genetics, cellular and molecular biology from the University of Nebraska-Lincoln. She was a postdoctoral research fellow in the Center for Neurovirology and Neurodegenerative Disorders at the University of Nebraska Medical Center. Carlson became a research associate and proteomics core director at UNMC before returning to UNK in 2003.

A history professor at UNK, Biggs received his bachelors and masters degrees in history from Iowa State University and a doctorate in medieval history from the University of Minnesota. His specialty areas are English history, ancient history and medieval history. Biggs has been a visiting professor at the Centre for Medieval Studies at the University of York and has presented papers at international conferences on both sides of the Atlantic and in New Zealand. In 2000, he was elected to fellowship in the Royal Historical Society.

TIME: 5:30 p.m.

DATE: Monday, Sept. 26

PLACE: The Loft, Cunninghams Journal, 15 W. 23rd St., Kearney

CONTACT: Allen Thomas, UNK associate professor of chemistry, 308.865.8452, thomasaa@unk.edu

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Was the Russian Flu the first coronavirus pandemic? Find out at next Science Caf - University of Nebraska at Kearney