Category Archives: Genetic medicine

The post-mortem examination of Medina Spirit by the California Horse Racing Board will likely take at least two months to complete, the board said in a statement to Horse Racing Nation on Thursday.

"In the case of sudden deaths, with the toxicology and outsourcing of some samples for analysis, two months to conclude is a reasonable timeline," the CHRB said.

To buttress the necropsy, the researchers hope to determine whether Medina Spirit had specific genetic factors putting him at risk for sudden cardiac death, the University of Minnesota said in a statement.

The samples from Medina Spirit sent to the university's College of Veterinary Medicine will also be incorporated into an ongoing research project to understand genetic and other risk factors for sudden cardiac death in racehorses.

Medina Spirits death is devastating, and sadly, such deaths occur all too frequently, said Dr. Molly McCue, a professor for the University of Minnesotas College of Veterinary Medicine who has been studying genetic disease in horses for two decades. Our hope is to find ways to pinpoint horses at risk so we can intervene before they lose their lives. In addition to helping equine athletes, this research may also provide answers for sudden cardiac death in young human athletes.

Also, in July 2020, the CHRB began a Postmortem Examination Review program of all fatalities in the state focused on education and prevention of catastrophic injuries. Trainer participation is mandatory in these reviews, which is conducted by an official CHRB veterinarian, a member of the board of stewards, a safety steward and CHRB equine medical director Dr. Jeff Blea.

Owned by Zedan Racing, Medina Spirit compiled a record of 10: 5-4-1 and banked $3,545,200 during two years on the track.

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Medina Spirit necropsy will take around 2 months to complete - Horse Racing Nation

Rapid advances in biomarker research improve outcomes for people with cancer. National Comprehensive Cancer Network Patient Advocacy Summit looks at policy and practice solutions to increase equitable access for all.

PLYMOUTH MEETING, Pa., Dec. 7, 2021 /PRNewswire/ -- Today, the National Comprehensive Cancer Network (NCCN) hosted its annual Patient Advocacy Summit. The 2021 online program included a recorded presentation from Congresswoman Debbie Wasserman Schultz (D-FL)one of the bipartisan sponsors of the Reducing Hereditary Cancer Act of 2021 (HR 4110). The summit highlighted diverse perspectives for expanding precision medicine in order to improve cancer outcomes; including discussions on federal and local policies to broaden genetic/genomic testing access.

NCCN Logo (C)NCCN(R) 2018. All rights reserved.

"Our understanding of precision medicine and how to equitably use biomarker testing is changing rapidly day-to-day," said panelist Crystal S. Denlinger, MD, FACP, Senior Vice President, Chief Scientific Officer, NCCN. "Given the ever-changing landscape of biomarkers, it can be hard to remain current on indications, terminology, appropriate testing technology, and coverage. The NCCN Biomarkers Compendium is one resource to help us standardize access to expert-recommended testing and targeted treatment, but more work and awareness is needed to harness this evolving science in the most beneficial ways."

The group of speakers also included patients, advocates, additional doctors, and payers. They stressed the importance of performing testing for biomarkers that can inform and improve patient outcomes, but acknowledged the various challenges faced around how to make sure that happens.

"Genetic and/or tumor biomarker testing are integral components of precision medicine, informing cancer treatment, screening, and risk-reducing interventions," said Lisa Schlager, Vice President, Public Policy, Facing Our Risk of Cancer Empowered (FORCE). "Access to guideline-recommended testing can lead to better quality of life and outcomes for patients. We must institute public policies that facilitate equal, affordable access to these tests regardless of one's age, health insurance, or socioeconomic status; this will ultimately reduce health disparities and save lives."

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"Access to cancer diagnostics always has a technical limitationis the testing available to anyonebut also a social limitationis the testing available to everyone," said Dan Milner, MD, MSc, MBA, American Society of Clinical Pathology. "The challenge of biomarkers for patients today is not availability but rather reliable systemic access and consistent workflow. We can solve this through coordination, collaboration, and placing the patient at the center of the process."

Speakers also acknowledged a significant need for education of multiple stakeholders around biomarkers so physicians can make the best possible recommendations and patients are better able to advocate for themselves.

"The lack of education and awareness among patients is one of biggest challenges for precision-based medicine," said Wenora Johnson, Patient Advocate. "One way to empower them is to ensure that patients understand their individual genetic information, with the help of genetic counselors. This allows patients and caregivers to make informed decisions regarding their healthcare and any related problems. Universally-accepted policies for sharing treatment and outcomes data will lead to better patient outcomes."

Mary Lou Smith, JD, MBA, Research Advocacy Network, agreed: "Genomic testing can provide valuable information for shared decision-making; but both patients and their treating physicians often have a hard time understanding the reports showing the results. We need clearer, more understandable ways of reporting the results from genomic testing in order to determine the most effective treatment option for patients."

Another recurring theme from the summit was the acknowledgement that the role of precision medicine in cancer care will continue to grow. Speakers were concerned that this progress could widen disparities in outcomes by leaving out too many patients.

"Biomarker testing is currently a fundamental step in the evaluation of patients with most cancers, in order to determine the best therapies available as well as clinical trial eligibility," said Debora S. Bruno, MD, MS, Case Comprehensive Cancer Center, Member of the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines) Panel for Non-Small Cell Lung Cancer. "However, recent studies have demonstrated that many patients in the U.S. with advanced/metastatic cancers are not comprehensively tested and that racial disparities exist when it comes to this basic assessment. As science evolves and cancer treatments become more effective, we are creating disparities that need urgent attention so all segments of society have access to these innovative therapies."

"In the last decade, there has been an explosion of new therapies in oncology which offer the promise of better outcomes," concluded Bhuvana Sagar, MD, MBA, Evernorth. "It is critical that people diagnosed with cancer are tested to determine if they can benefit from these new treatments. By improving access to testing and using the test results to guide therapies, we can improve long-term outcomes for cancer patients."

Additional speakers included:

State Representative Mary E. Flowers (D-IL), House Deputy Majority Leader, Illinois General Assembly

Hilary Gee Goeckner, MSW, American Cancer Society Cancer Action Network

Louis Jacques, MD, ADVI Health, LLC

Terrell Johnson, MPA, NCCN

Kristen Santiago, MS, LUNGevity Foundation

James Warburton, Novartis Oncology

The program also featured resource presentations from:

Monica Bryant, JD, Triage Cancer

Peggy Cottrell, MS, CGC, Sharsheret

Nikki Martin, MA, LUNGevity

Cassadie Moravek, Pancreatic Cancer Action Network (PanCAN)

More information on these resources to help improve access to precision medicine for the cancer community can be found at NCCN.org/summits. Join the conversation with the hashtag #NCCNPolicy.

Register now! The NCCN 2022 Annual Conference will take place as a "hybrid" event, with live sessions in Orlando, FL, and a virtual platform, March 31 - April 1. Pre-conference programs begin March 30. Visit NCCN.org/conference for more information and to register.

About the National Comprehensive Cancer NetworkThe National Comprehensive Cancer Network (NCCN) is a not-for-profit alliance of leading cancer centers devoted to patient care, research, and education. NCCN is dedicated to improving and facilitating quality, effective, equitable, and accessible cancer care so all patients can live better lives. The NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines) provide transparent, evidence-based, expert consensus recommendations for cancer treatment, prevention, and supportive services; they are the recognized standard for clinical direction and policy in cancer management and the most thorough and frequently-updated clinical practice guidelines available in any area of medicine. The NCCN Guidelines for Patients provide expert cancer treatment information to inform and empower patients and caregivers, through support from the NCCN Foundation. NCCN also advances continuing education, global initiatives, policy, and research collaboration and publication in oncology. Visit NCCN.org for more information and follow NCCN on Facebook @NCCNorg, Instagram @NCCNorg, and Twitter @NCCN.

Media Contact: Rachel Darwin267-622-6624darwin@nccn.org

Cision

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NCCN Summit Explores How to Better Deliver on the Promise of Precision Medicine for People with Cancer - Yahoo Finance

With the emergence of genetic sequencing, advances in diagnostics and wearable devices, there has been a swell of excitement around precision medicine or customised healthcare. The story in itself has fuelled a billion dollar market for public consumption. However, the industry is outpacing the science, and as yet, it is not so straight forward.

I have compiled a list of some of the key areas and advances in personalised medicine, which we will see come in to focus over the next few years:

1. Hormones: Such as oestrogen, progesterone, testosterone and thyroid, to name but a few. As physicians, we have been fortunate enough to tailor the needs to the individual, depending on the patients blood results and their symptoms. Although this is not new, treatments can vary, based on conventional wisdom, body-identical, bio-identical and natural supplements. It can be difficult for patients to navigate, as some practitioners have become more like alchemists, trialing different treatments (by their very nature it is not always evidence-based). For more detail please read my articles on correcting hormonal imbalance.

2. Cancer risk and diagnosis: Home DNA genetic test-kits have made checking for inheritable diseases widely available, but with some controversy (I have elaborated on this in my other article). They have also discovered new techniques for identifying cancer cell DNA markers in the blood, also known as liquid biopsies. This could potentially pick up of over 50 early stage cancers. Current trials are underway in the US and UK, which could lead to a paradigm shift in early-cancer detection for individuals, the likes of which we have not seen for over 30 years. Using polygenic risk scores (different combinations of genetic variance for a particular disease), multiple data points can be stacked for each individual (i.e. demographics/family history etc) and offer greater diagnostic precision.

See the article here:
Is 'personalised medicine' the future of healthcare? - Tatler

Reports of sporadic resistance to modern malaria drugs have begun appearing in recent years, and are now confirmed in Rwanda and Uganda. The Conversation Africas Ina Skosana asked infectious diseases experts Deus Ishengoma and Fredros Okumu to explain this development and what the implications are.

Resistance occurs when the effectiveness of a drug is reduced and it no longer provides a full cure against the targeted infection. It usually starts with only a few mutated parasites that survive treatments in an area. But it can spread rapidly because these resistant parasites continue to reproduce, while the susceptible ones are killed by the treatments.

For example, chloroquine was once considered to be the magic bullet against malaria. But malaria parasites evolved to survive it. The resistance spread in the 1980s and 1990s. It took more than 20 years of gradual failure before African governments and the World Health Organisation (WHO) agreed to change the guidelines and stop using chloroquine.

One reason for this was that the alternative medicines, notably artemisinin combination therapy (ACTs), were way too expensive and out of reach for most patients in the low-income countries

The other alternative drug at the time, sulfadoxine-pyrimethamine, was also showing signs of failure.

The methods for diagnosing malaria were less accurate and not always available back then. So children with fever were commonly treated as if they had malaria. This situation required a low-cost and widely available medicine, even if imperfect.

An even bigger problem was the lack of real-time data on the extent, impact and magnitude of drug resistance. The delayed appreciation of drug resistance caused an unnecessarily large number of severe malaria cases and preventable deaths across Africa in the late 1990s and early 2000s.

The WHO then recommended the use of artemisinin combination therapy (ACTs). These are cocktails, in which the most important ingredients are derivatives of artemisinin, a plant extract first synthesized in 1972 by the Chinese chemist, Tu Youyou, who later won the Nobel Prize in Physiology and Medicine in 2015. Because the ACTs are mixtures, it is difficult for malaria parasites to resist them.

Soon after the introduction of ACTs, reports of resistance to artemisinins started to emerge. These were initially in south-east Asia.

Since 2006, the WHO has been advising countries not to use single drugs (especially any artemisinin drug on its own). Instead, countries should use mostly combination therapies.

Unfortunately, for management of severe malaria, there are still no alternatives, so the recommended options still consist of only one active ingredient instead of mixtures. Examples are artesunate injections or the rectal artesunate capsules recommended for low income remote settings to buy families time and save lives of babies before reaching appropriate care.

These single drug options are the ones most threatened by the emerging resistance to front-line treatments for severe malaria in Africa. Moreover, new evidence now suggests that rectal artesunate capsules may actually not reduce malaria deaths unless the underlying health systems are sufficiently strong. Therefore, new options are even more urgently required here.

In Africa, most malaria-infected people who receive treatment in good time are fully cured and suffer no long-term effects. However, a minority can be unresponsive to standard treatments. Scientists and health practitioners are increasingly concerned that the situation may worsen in the years to come.

Professor Abdoulaye Djimde is the director of the Malaria Research and Training Centre at the University of Bamako in Mali. He was among the experts who first demonstrated (in 2001) how certain genetic changes in malaria parasites were linked to resistance against chloroquine. We recently asked him about the evidence for resistance to artemisinins in Africa. He thought deeply for moments before stating sadly that the lights are yellow. By this he meant that front-line drugs remain largely effective, but the likelihood of widespread failure is growing fast.

Efforts to develop new medicines have gained momentum, but no new drugs are expected in the market for at least several years.

The good news is that resistance to artemisinins has not spread widely in Africa. A recent review by a consortium of African scientists concluded that African malaria parasites already have the genetic changes potentially associated with resistance to artemisinins. But the frequency of these changes is still very low. Surveillance of these genetic elements must be ramped up and performance of drug treatments closely monitored.

It matters because of the scale of the potential problem. There are 241 million malaria cases resulting in 627,000 deaths annually even without widespread drug resistance in Africa, where nearly all these deaths occur.

First, we must recognise the urgency of this situation and develop a plan. In a recent conversation, Prof. Pedro Alonso, the director of the WHO Global Malaria Programme, reminded us that the drug resistance in Africa is emerging independently of the situation in south-east Asia, and we should not wait until complete failure emerges in Africa.

Prof. Alonso also recommended the following four measures.

Accelerate research and development for alternative medicines and other tools to control malaria.

Maintain healthy markets to attract more manufacturers to produce malaria medicines.

Continuously improve the quality of care for malaria patients and reduce the use of single medicines also known as monotherapies.

Enhance surveillance to track drug resistance within and across borders.

There are now low-cost rapid diagnostics for detecting malaria even in rural settings. There are also far better scientific methods for monitoring performance and safety of malaria medicines.

More importantly, molecular surveillance allows us to detect the resistance signals in circulating malaria parasites long before the medicines begin failing. This way, public health authorities and drug developers can stay ahead of the game, by adjusting treatment guidelines.

One example is a programme we recently established in Tanzania to track genetic changes in the circulating malaria parasites and how these parasites respond to current treatments.

Countries must endeavour to prevent as many cases as possible and limit the likelihood of severe malaria.

The WHO Malaria Policy Advisory Group has emphasised the need to intensify investigations into artemisinin resistance in Africa and urged the Global Malaria Programme to consider what to do if partner drugs become less effective.

Beyond this, we must learn from history and from recent trends. Most importantly, we all need a honest reflection of what it will really take to eliminate malaria. The overriding lesson is that problems such as resistance are merely symptoms of greater challenges. Medicines, insecticides and nets may deliver short-term anti-malaria goals. But sustainable progress towards elimination requires more holistic approaches.

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The warning lights are on for malaria medicines in Africa - The Conversation Africa

image:Prof. Illana Gozes view more

Credit: Jonathan Blum, Tel Aviv University.

An extensive international study led by Tel Aviv University found that an experimental drug which has been awarded orphan drug designation by the FDA for future treatment of a rare development disorder can also treat a variety of symptoms relating to autism, intellectual disability, and Alzheimers disease.

The experimental drug, NAP, was discovered in the lab of Prof. Illana Gozes of the Tel Aviv University Sackler Medical Schools Department of Human Molecular Genetics and Biochemistry. In recent years, the FDA has granted the experimental drug with orphan drug designation and pediatric rare disease designation for treatment of a rare developmental disorder called ADNP syndrome, which can cause a variety of symptoms, among them, hallmark features are intellectual disability and autism spectrum disorder.

In the current study, a team of researchers led by Prof. Gozes developed an innovative lab model and found that NAP can be effective in treating a broad spectrum of symptoms of ADNP syndrome, which is caused by mutations in the ADNP gene which is essential to cerebral development and protecting cerebral brain cells. Previous studies showed that ADNP syndrome is related to Alzheimers disease and certain types of mental disabilities, developmental delays, and autism.

Ramot, Tel Aviv University's technology commerce company filed a number of patent applications to protect the technology and its implementation and, in collaboration with Prof. Gozes, is raising funds to finance further clinical research. Similarly, Ramot is in discussions regarding commercial collaboration with pharmaceutical companies. "Were excited by this new discovery and believe that this is groundbreaking technology that will remedy a variety of symptoms and disabilities in a broad spectrum of orphan diseases," said Prof. Keren Primor Cohen, CEO of Ramot.

The study, which is the culmination of the MD/PhD student Dr. Gideon Carmons doctoral research, was joined by a team of researchers from Prof. Gozess lab: Dr. Shlomo Sergovich, Gal Hacohen-Kleiman, Inbar Ben-Horin-Hazak, Dr. Oxana Kapitansky, Alexandra Lubincheva, and Dr. Eliezer Giladi. The team was further joined by Dr. Moran Rubinstein, Prof. Noam Shomron, and Guy Shapira of TAUs Sackler Faculty of Medicine, and Dr. Metsada Pasmanik Chor of Tel Aviv Universitys George S. Wise Faculty of Life Sciences. Researchers from the Czech Republic, Greece, Germany, and Canada also participated. The article was published in the prestigious journal Biological Psychiatry.

Prof. Gozes explained that: NAP, in fact, comprises a short segment of the normal ADNP protein. We previously found that treatment using NAP corrects the function of human nerve cells afflicted with ADNP syndrome in a laboratory test-tube. In this study, we sought to examine the efficacy of NAP in treating various aspects of the syndrome using a model with the most harmful mutation, which allowed us to view brain development and facilitate remedying of behavioral problems.

The study, which examined a model using mice with ADNP syndrome, used objective methods to analyze behavior, electrical activity, and to further identify select protein contents in the brain. The researchers found that the mice suffering from ADNP syndrome demonstrated a broad spectrum of pathological outcomes, including increased rates of neonatal death immediately after birth, slowed development and aberrant gait, primarily among females, as well as poor voice communication.

Cerebral examinations demonstrated additional findings: A relatively small number of synapses the points of contact tween nerve cells, impaired electrophysiological activity demonstrating a low potential for normal cerebral arousal, as well as precipitates (aggregates) of the Tau protein in young mice, similar to those in the brains of elderly Alzheimer's disease patients.

For most of these symptoms, the researchers examined the effect of the future medicinal substance NAP made of a short and normal segment of the ADNP protein, the same protein that is impaired because of the mutation. Prof. Gozes: "In the past, we have found that NAP corrects impaired functioning of ADNP that has mutated in the nerve cell model in the culture. We now examined its effect in vivo in animals modeling the syndrome (ADNP mutation). To our amazement and joy, we discovered that treatment using NAP normalizes the functioning of these mice for most of the symptoms indicated above!"

Researchers further sought to identify in the blood of the mice, a clear biological indicator of ADNP syndrome that will enable diagnosis of this severe disease and effective monitoring of treatment using a simple blood test. With the help of genetic sequencing technologies, they identified an anomaly in a manner characteristic only of females as well as a method for repair using NAP on five proteins (at the messenger RNA level). These findings matched the changes discovered in white blood cells of children suffering from ADNP syndrome. One of the indicators discovered is FOXO3 a protein with an important role in generating cerebral synapses and healthy aging.

Prof. Gozes summarized: "In this study, we examined the effect of the ADNP genes most prevalent mutation in a broad spectrum of aspects and found extensive impairment in physical and cerebral functioning parallel to the symptoms of autism, developmental delay, mental disability, and Alzheimer's disease in humans. Similarly, we examined the potential use of the NAP drug for treating these diseases, and discovered that it is effective against most of these symptoms in lab models. This study is an important milestone on the way to developing a drug, or drugs, that will help children with autism stemming from genetic mutations, as well as Alzheimer's patients."

Link to the article:

https://doi.org/10.1016/j.biopsych.2021.09.018

Biological Psychiatry

Novel ADNP Syndrome Mice Reveal Dramatic Sex-Specific Peripheral Gene Expression With Brain Synaptic and Tau Pathologies

28-Sep-2021

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Experimental compound, which has received orphan drug and pediatric rare disease designations from the FDA, displays effectiveness in treating...

FREMONT, Calif., Dec. 9, 2021 /PRNewswire/ -- The global CRISPR gene editing marketis projected to reach $18.85 billion by 2031, reveals the premium market intelligence study by BIS Research. The study also highlights that the market is set to witness a CAGR of 29.60% during the forecast period 2021-2031.

The development of genome engineering with potential applications proved to reflect a remarkable impact on the future of the healthcare and life science industry. The high efficiency of the CRISPR-Cas9 system has been demonstrated in various studies for genome editing, which resulted in significant investments within the field of genome engineering. However, with so many advantages, limitations also exist, which need consideration before clinical applications.

The detailed study is a compilation of 09 Market Data Tables and 238 Figures spread through 296 Pages and in-depth TOC on "Global CRISPR Gene Editing Market Analysis and Forecast, 2021-2031"

USP of the report

Analyst's Take on the Market:

To emphasize the dominance of the kits and enzymes segment of CRISPR products market segment over other segments under the product category of CRISPR gene editing market in 2021 and 2031, Nitish Kumar, Lead Analyst BIS Research, states, "The reason for market growth and the dominance of CRISPR products market segment can be attributed to increasing global geriatric population, prevalence of genetic disorders, chronic conditions, rising focus on research and development (R&D) of novel gene therapies, increased government and private funding for improved safety and outcomes provided by the CRISPR gene editing products."

View the Reportfrom BIS Research at Global CRISPR Gene Editing Market

Key Companies Operating in the Market and Competition Landscape

Key insights are drawn from in-depth interviews with the key opinion leaders of more than 20 leading companies, market participants, and vendors. The key players profiled in the report include Abcam plc., Agilent Technologies, Inc., Applied StemCell, Inc., Cellecta, Inc., CRISPR Therapeutics, OriGene Technologies, Inc., GeneCopoeia, Inc., Genscript Biotech Corporation, Horizon Discovery Group Plc, Integrated DNA Technologies (IDT), Inc., Merck KGaA, New England Biolabs, Inc., Rockland Immunochemicals, Inc., Synthego Corporation, System Biosciences, LLC, Thermo Fisher Scientific Inc., ToolGen, Inc., Intellia Therapeutics, Inc., Editas Medicine, Takara Bio, Inc., and Caribou Biosciences, Inc.

The study also offers strategic recommendations that can help organizations track various products, trends, and technologies that are changing the market dynamics. The recommendations by BIS Research also offer bespoke research services to help organizations meet their objectives.

Who should buy this report?

Request for a Sample: https://bisresearch.com/requestsample?id=1210&type=download

Key Questions Answered in the Report:

BIS Research Related Market Studies:

Global Cell and Gene Therapy Market - Analysis and Forecast, 2019-2025

About BIS Research:

BIS Researchis a global B2B market intelligence and advisory firm focusing on deep technology and related emerging trends which can disrupt the market dynamics in the near future. We publish more than 200 market intelligence studies annually that focus on several deep technology verticals.

Our strategic market analysis emphasizes on market estimations, technology analysis, emerging high-growth applications, deeply segmented granular country-level market data, and other important market parameters useful in the strategic decision-making for senior management.

BIS Research offers syndicate as well as custom studies and expert consultations to firms, providing them specific and actionable insights on novel technology markets, business models, and competitive landscape.

BIS Healthcare vertical offers intelligence in the healthcare technology market for Medical Devices, Digital Health, Life Sciences, Robotics and Imaging, Information Technology, Precision Medicine, and other emerging healthcare technologies, covering the entire industry spectrum. In the past 5 years, BIS Healthcare has published more than 50 reports under the precision medicine banner. Additionally, BIS Research has been nominating Top 25 Voices in Precision Medicine on its Insight Monk platform for the past two years successfully.

Contact:Bhavya BangaEmail: [emailprotected] BIS Research Inc.39111 PASEO PADRE PKWY STE 313,FREMONT CA 94538-1686Visit our Blog @ https://blog.bisresearch.com/ Connect with us on LinkedIn @ https://www.linkedin.com/company/bis-researchConnect with us on [emailprotected] https://twitter.com/BISResearch

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BIS Research Study Highlights the Global CRISPR Gene Editing Market to Reach $18.85 Billion by 2031 - PRNewswire

Horse owners usually dread hearing the diagnosis of laminitis. The disease plagues horses of many backgrounds, ages, and disciplines. Now, using genetics, scientists from Penns School of Veterinary Medicine and the University of Florida (UF) have made new insights in the disease. Their findings appear in the journal Veterinary Immunology and Immunopathology.

A horses hoof has a tough job. It must support a heavy animal which can move faster than 40 miles per hour. Laminitis occurs when inflammation and damage of the tissue arises between the hoof and coffin bone. The condition causes lameness and a diminished quality of life, and it often results in euthanasia.

Laminitis is a tough problem for the horse and its owner, says Samantha Brooks, UF associate professor of equine physiology and the corresponding author on the work. We have very few tools in our arsenal to manage the disease itself. We treat symptoms, pain, and mechanical instability but do not have anything to target the cause just yet.

By tapping into my labs database and incorporating Dr. Brooks unparalleled expertise in equine genetics and transcriptome analysis, we have identified new and promising pathways in cell stress and inflammatory response that significantly enhance our understanding of supporting limb laminitis and its disease processes, says Hannah Galantino-Homer, senior investigator in laminitis research at Penn Vets New Bolton Center and a coauthor on the paper.

Laminitis studies have previously been hindered by the scarcity of genetic information specific to hoof tissues. Scientists tapped into the New Bolton Center Laminitis Discovery Database, an archive of data and sample sets from naturally occurring laminitis cases collected since 2008. Using that database, researchers examined 36 archived tissues of 20 Thoroughbred horses treated for laminitis.

There are three types of laminitis, and all impair the structure and function of the horses foot. This research provided a snapshot of the active pathways and functions of the hoof, with a focus on supporting limb laminitis, the kind to which famous racehorse Barbaro succumbed.

We understand the situations that trigger an episode of laminitis, but we do not have a good understanding of what is happening in the hoof, says Brooks. This study took a very comprehensive view of the processes early in the development of laminitis.

Using gene-expression analysis, researchers catalogued the changes in gene transcription across the 20 horses. Some had healthy feet, some were early in the disease process, and others were more severe.

Researchers identified three key findings about the disease process.

The first related to keratin, an important structural protein that helps maintain the structural integrity of materials like hair, nails, and hooves. This study was one of the first to examine the changes in the keratin protein family through the laminitis disease process. Some of the keratin-related genes and genes involved in regulating of the cells manufacturing process started to diminish as the disease began. This could be compared to when a car gets a flat tire; it may still be running, but it loses appropriate function and slows down.

Another component of cell machinery often studied in laminitis is a class of enzymes called metalloproteinases that help maintain the cytoskeleton. These enzymes must maintain a careful equilibrium. Hooves must be able to grow yet not break down under the weight of the horse, which requires a balance of remodeling and building tissues. When the metalloproteinases become too active, the hoof begins to lose structural strength. One previous strategy for treating this process was to stop these enzymes from becoming too active. But treatment targeting these enzymes might also stop hoof growth, which would likely lead to further problems.

When keratin degrades, inflammation in the hoof leads to laminitis. Scientists found a collection of genes responsible for triggering that inflammation which could pave the way for future therapies. The genes led researchers to believe that some human medications for autoimmune disorders may help horses with laminitis.

Changes in gene expression in diseased tissue are often reflected in changes in the proteins that can be detected in the blood as the disease progresses. For example, specific proteins, or biomarkers, that increase in the blood in humans following traumatic brain injury were also expressed at higher levels in the samples from the horses with laminitis in this study. Medical doctors have used these compounds to understand the severity of these injuries in humans without using imaging or more invasive testing. The team hopes this could be used as a tool to monitor the progression of laminitis in the horse.

We dont always recognize that a horse has severe laminitis until things have gotten quite bad, says Brooks. Early monitoring tools and ways to combat the disease were exciting findings, but we need further research before these new tools will be ready for use in the field.

The researchers hope that this research can lead to a blood test to detect these new laminitis-related biomarkers as well as medications that are economical and effective for horses with the disease.

Ultimately, these new findings point us towards a more targeted approach for future exploration that we hope will help uncover novel solutions for preventing and treating this debilitating disease, says Galantino-Homer.

This is a big step in improving our understanding of laminitis, says Brooks. Something that could be completely untreatable 10 years ago; in another 10 years we may be able to intervene and make a significant difference in the disease early on.

Galantino-Homer and Brooks coauthors were Heather M. Holl from UF and Caitlin Armstrong from Penn Vet.

The study was supported by funding from The Foundation for the Horse.

University of Florida media contact: Tory Moore, 354-273-3566, torymoore@ufl.edu

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Laminitis insights show promise for the future | Penn Today - Penn Today

(Reuters) - Heres what you need to know about the coronavirus right now:

People walk their dog past a sign put up to encourage social distancing along Marina Bay during the coronavirus disease (COVID-19) outbreak, in Singapore, September 29, 2021. REUTERS/Edgar Su

Singapore looking into unusual surge after record cases

Singapores health ministry said it is looking into an unusual surge in infections after the city-state reported 5,324 new cases of COVID-19, the most since the beginning of the pandemic. Singapore also recorded 10 new deaths from the disease, taking its toll to 349.

Singapore extended some of its social-distancing curbs last week to contain the spread of COVID-19 to ease pressure on the health system. Authorities have reimposed curbs that include limiting social interactions and dining out to two people.

COVID infections, deaths dropping across the Americas

COVID-19 is slowly retreating across most of North, Central and South America, the Pan American Health Organization (PAHO) said on Wednesday, reporting that last week the continents death and infection figures were the lowest in more than a year. Many of the larger Caribbean islands are seeing downward trends, including Cuba, the site of a major months-long COVID-19 outbreak.

However, Paraguay saw a doubling of coronavirus cases in the last week and Belize had a sharp jump in COVID-related deaths, the regional branch of the World Health Organization said. Moe than 3 million more vaccine doses will arrive in the region through the COVAX facility this week, as deliveries pick up in the final months of the year, PAHO Assistant Director Jarbas Barbosa said.

White House signals flexibility over Dec. 8 vaccine deadline

The Biden administrations COVID-19 vaccination deadline will not require immediate action on the part of employers against unvaccinated employees when it comes into force on Dec. 8, the White House coronavirus response coordinator said on Wednesday.

The White House comments suggest federal contractors employing millions of U.S. workers have significant flexibility in enforcing COVID-19 rules and will not be required to immediately lay off workers, but will have time for education, counselling and other measures before potentially ending employment.

Genes may explain critical COVID-19 in young, healthy adults

A gene that helps the coronavirus reproduce itself might contribute to life-threatening COVID-19 in young, otherwise healthy people, new findings suggest. Genetic analysis identified five genes that were significantly upregulated, or more active, in COVID-19 patients with critical illness, of which the most frequent was a gene called ADAM9.

As reported on Tuesday in Science Translational Medicine, the researchers saw the same genetic pattern in a separate group of COVID-19 patients. Later, in lab experiments using human lung cells infected with the coronavirus, they found that blocking the activity of the ADAM9 gene made it harder for the virus to make copies of itself. More research is needed, they say, to confirm their findings and to determine whether it would be worthwhile to develop treatments to block ADAM9.

Coronavirus found to infect fat cells

Obesity is a known risk factor for more severe COVID-19. One likely reason may be that the virus can infect fat cells, researchers have discovered. In lab experiments and in autopsies of patients who died of COVID-19, they found the virus infects two types of cells found in fat tissue: mature fat cells, called adipocytes, and immune cells called macrophages.

Infection of fat cells led to a marked inflammatory response, consistent with the type of immune response that is seen in severe cases of COVID-19, said Dr Catherine Blish of Stanford University School of Medicine, whose team reported the findings on bioRxiv on Monday ahead of peer review.

Compiled by Karishma Singh; Editing by Robert Birsel

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What you need to know about the coronavirus right now - Reuters Australia

Written by Audrey Eaves

Advancements in science and technology have enabled the possibility of human genetic cloning and engineering. In contemporary society, these biological technologies are controversial. Many governmental, scientific, and religious organizations are fervently opposing genetic engineering due to controversy in the context of safety and moral outcomes. Nevertheless, advocates and supporters argue that these technologies are fundamental to providing remedies via regenerative medicine through genetically identical human cells, organs, or tissues. Other health areas such as cosmetic and reconstructive surgeries, infertility, burn treatments, heart disease, cancer, and diabetes can benefit from the new technologies available through gene therapies. Gene therapy can help millions suffering from disease and disorders. Biomedical researchers are working on effective solutions regarding some major genetic disorders such as sickle-cell and hemophilia, but there are always risks.

Genetic engineering certainly has its dilemmas, but it also has a moral and ethical value in contemporary society, therefore, a new branch of ethics is born: bioethics. Bioethics refers to the application of medical and biological sciences in appropriate, humane, and responsible ways. Supporters see genetic engineering and cloning as a viable way to duplicate organs and tissues for patients who otherwise would not be able to find transplants and could escape lifetimes of medications with undesirable side effects. Yet, some are concerned that if done incorrectly, genetic engineering could actually introduce new disorders that would subsequently circulate in the population and thus become a permanent aspect of the worlds population.

The majority of biomedical researchers view genetic engineering as a crucial tool for medicine, especially in the provision of solutions for diverse terminal health issues. Consider these daunting statistics from Kidney.org: the average wait time for a needed kidney is three to five years, and some patients cannot wait that long. According to another source, Donate Life America, 8,000 people die every year waiting for an organ, 80% of which are kidneys. However, in a world where slavery, human organ harvesting, and black markets continue to be a problem, genetic engineering and cloning could provide even darker opportunities for these human rights crimes. A realistic approach in the context of humanitys place in the world and a code of ethics to form the foundation of human genetic engineering practices is needed.

Religious factions are by no means the only moral compass of society, but they tend to be the loudest sounding alarms of anything that is morally questionable. While their objections sometimes (but not always) deviate from science and can frustrate progressive efforts, they provide a necessary role in a symbiotic system of checks and balances within the scientific communities they oppose. It is constructively beneficial that science should always be questioned and forced to prove itself before diving headfirst into the deep waters of the latest and greatest technological discoveries.

Embryonic engineering and cloning in particular draws criticism from people of various faiths who argue that the creation of embryos for the purposes of research does not respect life. A number of religious faiths assert that embryos should be assigned personhood. This particular characterization disarms objectification practices that are currently in place regarding human embryos. During the process of embryonic research, excess embryos are created and destined for destruction, which is another challenge for bioethics. However, this is nothing new, as the process of IVF does similarly for couples who struggle with infertility. Matters of human wastefulness always arise in these waters. Even with natural pregnancies, research shows that half of the embryos fail to implant or are lost. While embryonic loss does occur in natural pregnancies, most people do not equate laboratory embryonic loss with infant mortality, which implies they have a different moral value to most of society. Does regarding human embryos as mere objects that can be used in any desirable way make them lack the nascent aspect of human life and significance? Whatever side one falls on the argument, it is vital to encourage the cultivation of a society that views life as having great intrinsic value. This understanding and respect for life creates the difference between barbarism and civilization.

There are yet other faiths who place great spiritual importance on what goes inside their bodies. This can apply both to what is in their food as well as medical treatments. For these groups, there could be a moral dilemma posed by significant genetic modification of food and medicine. For example, various genes are being injected into peppers and tomatoes to make them grow faster and more hearty. Animal and human cells are also used in the production of some vaccines. This raises the question of how many human and animal genes can be present in vegetables or medicine without it being considered unsuitable for vegans or the millions of religious adherents who abstain from certain animal and human by-products, such as with Islam, Jehovahs Witnesses, and Judaism. While these unique groups of people are ultimately responsible for their own decisions, sensitivity to diverse belief systems must be a consideration of the scientific community as well.

Despite all the current ethical concerns regarding genetic engineering and human cloning, the practice still has tremendous potential in light of more conclusive scientific research studies on this particular subject. However, the challenges experienced in past genetic experiments should be a major factor in discouraging a rushed start of biogenetics. More research should be developed to review the ethical and moral considerations in genetic engineering practices. A full understanding of what we are doing and its consequences needs some time to catch up with the technology. Most important is the conviction and cultivation of a society that protects and enhances life in all of its scientific endeavors.

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Genetic Engineering and Ethics: Are We Ready? | The Voice - The Voice

Scientists at the University of Colorado School of Medicine, along with colleagues at UCHealth University of Colorado Hospital, have discovered specific genetic biomarkers that not only show who is infected with COVID-19, but offer insights into how severe the disease might be, filling a major diagnostic gap.

I think this study is a tremendous proof-of-concept in the realm of COVID-19 testing, one that can be applied to other diseases, said the studys lead author, Kathleen Barnes, PhD, professor at the CU School of Medicine. Its a major move forward in the world of precision medicine.

The study, published Tuesday in the journal Communications Medicine, suggests that specific signals from a process called DNA methylation varies between those infected and those not infected with SARS-CoV-2. And they can indicate the severity of the disease even in the early stages.

DNA methylation, critical in how cells function, is an epigenetic signaling tool that cells use to turn genes off. Any mistakes in the process can trigger a variety of disease.

Barnes believes that paying attention to these signals could help fill a needed gap in the current world of COVID testing. Most COVID-19 antigen or rapid tests are dependent on viral strains and can carry high false negative rates. They dont predict if the virus is viable and replicating, nor do they predict clinical outcomes.

A pre-symptomatic patient may test negative for the SARS-CoV-2 virus while patients who have recovered may still test positive despite no longer being infectious.

Accurate diagnostics are urgently required to control continued communal spread, to better understand host response, and for the development of vaccines and antivirals, the study said. Identification of which SARS-CoV-2 infected patients are most likely to develop severe disease would enable clinicians to triage patients via augmented clinical decision support.

But the authors said they didnt know of any test that can predict the clinical course of COVID-19.

With that in mind, they analyzed the epigenome in blood samples from people with and without COVID-19. They did this by customizing a tool from Illumina called the Infinium Methylation EPIC array to enhance immune response detection. Researchers then profiled peripheral blood samples from 164 COVID-19 patients and 296 control patients.

The peripheral blood DNA samples were collected from patients seen at UCHealth and tested for SARS-CoV-2 epigenetic signatures starting March 1, 2020. Most blood specimens were collected in the University of Colorado Emergency Medicine Specimen Bank under the direction of study co-author Andrew Monte, MD, PhD, and passed on to the Colorado Anschutz Research Genetics Organization (CARGO). Additional specimens were taken from patients consented to the University of Colorado COVID-19 Biorepository.

The researchers discovered specific genetic markers of SARS-CoV-2 infection along with indications of how severe the disease might be.

These signals of disease progression were present from the initial blood draw when first walking into the hospital, the study said. Together, these approaches demonstrate the potential of measuring the epigenome for monitoring SARS-CoV-2 status and severity.

According to Barnes, the findings could ultimately lead to a new and more accurate way to test for COVID-19.

We are exploring how this platform could add value to the COVID diagnostic world, she said. We think it adds value to knowing what patients develop more serious disease. This could tell you if you could ride out the infection or if it is likely to get worse.

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Genetic Markers May Predict Severity of COVID-19 Infection - CU Anschutz Today