Monthly Archives: June 2022

Telemedicine, continuous glucose monitoring mitigated effects of pandemic on children with diabetes – UT Southwestern

Posted: June 4, 2022 at 2:41 am

DALLAS May 31, 2022 The rapid adoption of telemedicine and increased use of continuous glucose monitoring helped to attenuate the impacts of the COVID-19 pandemic on children with Type 1 diabetes, according to a new study from UTSouthwestern researchers.

Abha Choudhary, M.D.

The pandemic had profound effects on disease management when shutdowns occurred in 2020, creating barriers for those who lost jobs and insurance and aggravating existing health disparities. Several studies have shown that the pandemic worsened glucose control in patients with diabetes and made it more difficult to access care.

Our diabetes team implemented telemedicine visits within weeks of the shutdown, allowing us to provide care to our patients in an efficient and timely manner, said Abha Choudhary, M.D., Assistant Professor of Pediatrics at UTSouthwestern and a pediatric endocrinologist at Childrens Health. Our team was also able to utilize continuous glucose monitoring for a growing number of patients which may have helped to mitigate some of the challenges brought on by the pandemic.

For the study published in BMC Pediatrics, Dr. Choudhary and colleagues used data from Childrens Medical Center Dallas to determine how the management of patients with Type 1 diabetes was affected by the pandemic in a large urban setting. They analyzed patient characteristics including insurance status, race, ethnicity, gender, glucose control, office visits, and hospitalizations, and compared the use of continuous glucose monitoring in the year prior to the start of the pandemic to the first year of the pandemic.

The study found that while the number of office visits among patients decreased during the pandemic, there was no effect on disease management in this group both glucose control and hospitalization rates were unchanged.

However, the results highlighted existing disparities among patients in minority and low-income demographics. Both before and during the pandemic, Black and Hispanic patients and those without commercial insurance had worse glucose control and higher hospitalization rates than their white, non-Hispanic, insured counterparts.

While the use of continuous glucose monitoring was higher among insured patients overall, there was a dramatic increase in use by patients without commercial insurance during the pandemic. This is likely due to the increased availability of glucose monitoring systems offered to Medicaid recipients in Texas that took effect during the pandemic, Dr. Choudhary explained.

The researchers believe the increased use of continuous glucose monitoring along with the successful implementation of telemedicine greatly contributed to preventing worse outcomes in this patient population.

For all the progress we have made, significant disparities remain with regard to access to some of the tools we think made the biggest differences during the early months of the pandemic, said Dr. Choudhary. From broadband access to the hardware and software thats so central to diabetes care these days, weve only begun to scratch the surface when it comes to addressing disparities in technology and remote-patient monitoring.

UTSouthwestern is ranked among the top 25 hospitals in the nation for diabetes and endocrinology by U.S. News & World Report.

About UTSouthwestern Medical Center

UTSouthwestern, one of the nations premier academic medical centers, integrates pioneering biomedical research with exceptional clinical care and education. The institutions faculty has received six Nobel Prizes, and includes 26 members of the National Academy of Sciences, 17 members of the National Academy of Medicine, and 14 Howard Hughes Medical Institute Investigators. The full-time faculty of more than 2,900 is responsible for groundbreaking medical advances and is committed to translating science-driven research quickly to new clinical treatments. UTSouthwestern physicians provide care in more than 80 specialtiesto more than 100,000 hospitalized patients, more than 360,000 emergency room cases, and oversee nearly 4 million outpatient visits a year.

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Beta Bionics looks to reduce ‘cognitive burden’ for those with diabetes with bionic pancreas – Mass Device

Posted: June 4, 2022 at 2:41 am

Users of insulin pumps may be used to a certain regimen associated with managing their diabetes. That can include carbohydrate counting, setting basal rates and more.

Beta Bionicshas set out to change that. With the Concord, Massachusetts-based companys iLet bionic pancreas, the user inputs just one number: their body weight.

The company designed the pocket-sized, wearable, investigational iLet device to autonomously dose insulin. Worn like an insulin pump, iLet users only enter body weight to initialize therapy without the need for insulin regimen parameters. The company designed the device to then automatically titrate and infuse insulin without requiring the counting of carbs, the settings of certain rates and factors and more.

Its very qualitative, not quantitative, Beta Bionics interim CEO and board member Martha Aronson toldDrug Delivery BusinessNews. This cognitive burden the amount of math you have to do every day if youre a person with type one diabetes is extraordinary. Our goal is to take away that cognitive burden for people who live with type one diabetes.

Get the full story at our sister site, Drug Delivery Business News.

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First-ever global coverage targets for diabetes adopted at the 75th World Health Assembly – World Health Organization

Posted: June 4, 2022 at 2:41 am

For the first time ever, WHO Member States have supported the creation of global targets for diabetes, as part of recommendations to strengthen and monitor diabetes responses within national noncommunicable disease (NCD) programmes.

The five new targets set the standard that, by 2030:

The aim is to reduce the risk of diabetes, and move towards a world where all people who are diagnosed with diabetes have access to equitable, comprehensive, affordable and quality treatment and care.

The recommendations and targets are a core part of work requested by Member States in a resolution at last years World Health Assembly (A74/A/CONF./5). This resolution also requested the WHO Secretariat to:

Far too many people with diabetes have either never been diagnosed or are not able to access the medicines and technologies that could improve their condition. said Dr Bente Mikkelsen, Director for Noncommunicable Diseases, WorldHealth Organization.

As one example, it is unacceptable that a century since the discovery of insulin, many people still cannot access this essential and life-saving medicine. The decision taken today, including the establishment of global coverage targets for diabetes, will empower Member States to accelerate action on diabetes, and support people living with diabetes, around the world.

A year of the Global Diabetes Compact

Much has happened since the launch of the Global Diabetes Compact at the 2021 Global Diabetes Summit, co-hosted by WHO and the Government of Canada to commemorate the 100th anniversary of the discovery of insulin. Six workstreams have beenestablished, covering vital areas such as access to essential medicines and health technologies, health promotion, and country work. Work has also been taken to implement the Global Diabetes Compact at Regional Office level.

WHO has secured the assistance of leading experts to advise on diabetes technical matters, through the establishment of a Technical Advisory Group on Diabetes (TAG-D). We are also learning from people with lived experience of diabetes, acknowledging thatthis principle will help ensure the Global Diabetes Compact focuses on areas where action is most needed.A global informal consultation and focus groups have been conducted with people with lived experiences of diabetes, yielding vital insightson several topics including diabetes care, education, mental health and stigma associated with diabetes.

In addition, two meetings of the recently formed Global Diabetes Compact Forum have been held, with more than 70 participating organizations from civil society, academic institutions, philanthropic foundations, and business associations. The Forum providesan opportunity for the exchange of information and ideas that could be organized collectively for greater impact.

Scaling up our impact in countries around the world

The establishment of the Global Diabetes Compact and its associated coordination activities have brought added impetus to diabetes efforts within ministries of health around the world. Across the three levels of WHO, teams have used the opportunity tosupport countries in their efforts, providing technical guidance and support advocacy.

Over the past few months, WHO has secured funding for a 3-year project on the prevention and control of NCDs in primary care by prioritizing people living with diabetes in Kyrgyzstan and Uzbekistan.

WHO has been working hard to integrate diabetes into primary care, using the WHO Package of Essential Noncommunicable disease interventions (PEN) toolkit and HEARTS technical package. Mali is one of seven countries in the African Region currently implementingWHO HEARTS, including training health-care workers on managing diabetes. In South-East Asia, WHOs technical guidance on diagnosis and management of type 2 diabetes (HEARTS-D), has been adapted into an online training module for stakeholdersresponsible for planning diabetes services.

Every year until 2031, the WHO Secretariat will also submit a report on the implementation of the recommendations to the Health Assembly through the Executive Board, on an annual basis and as a component on the report on NCDs.

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RPM Software Provider Helps a Clinic Reduce A1c Levels for 84% of Patients Enrolled in a Program that Used the Cellular-Enabled iGlucose for Remote…

Posted: June 4, 2022 at 2:41 am

According to theCDC1, in the last 20 years, the number of adults diagnosed with diabetes has more than doubled as the American population has aged and become more overweight or obese. In addition, one study2 concluded that 3 out of 10 adults, or about 8 million people, have diabetes but aren't aware of it.

RBGM is an easy way for physicians to monitor patients that may be at risk for diabetes or patients with diabetes by simply providing a device they can take home. The iGlucose from Smart Meter utilizes the 4/5G AT&T IoT fast and secure network so patients and providers can track blood glucose levels in real time. This allows the provider to make an immediate diagnosis and implement a care program to improve outcomes.

A great example of the impact a remote blood glucose monitoring program can have on outcomes was seen at the Leon Medical Centers in South Florida. In 2021, Working with the Rimidi RPM platform, Leon patients who were considered high-risk with A1c levels above 9% were given an iGlucose and instructed by their doctor how often to take their blood-glucose reading. Of the approximately 225 high-risk patients who were enrolled in the program, 84% of those patients saw a reduction in their A1Cs below 9%, a key indicator of better diabetes control.

"In recent years, it's been proven that digitally connecting patients to their doctors between visits improves care and outcomes," said Casey Pittock, CEO, Smart Meter. "The conclusions of the program for Leon Medical Centers' patients are another example of how powerful RBGM can be. By providing these patients with a cellular-enabled iGlucose that transmits results immediately, it eliminated many barriers to reliable data that are seen with Bluetooth devices."

While remote patient monitoring has become more popular in recent years, education about its benefits is still needed. In fact, 45% of respondents in a Smart Meter study3 have never heard of RPM. Those who have heard of RPM programs overall feel it would help them increase their testing frequency.

About Smart Meter, LLC

Now working with more than 300 RPM distribution partners, who serve more than 120,000 patients, Smart Meter is the leading supplier of cellular-enabled virtual care technologies that include the iGlucose, iBloodPressure, iPulseOx, iScale, and SmartRPMcloud platform, as well as data, and services. Smart Meter's remote patient monitoring solutions are recognized as the standard for the RPM industry and are regarded for their high patient retention and satisfaction. The unique combination of reliable health data, patient-friendly devices, and platform integrations enable and enhance RPM, CCM, Employee Wellness, Population Health, and Telehealth programs for. For more information, visitSmartMeterRPM.com

1 Diabetes Quick Facts | Basics | Diabetes | CDC

2Nearly 3 in 10 Americans With Diabetes Don't Know It: Study - Consumer Health News | HealthDay

3Smart-Meter-National-Diabetes-Month-Survey.pdf (smartmeterrpm.com)

Smart Meter, LLC Media Contact5501 W. Waters Ave., Suite 401 Keith TolbertTampa, FL 33602 [emailprotected]813-773-4080 336-509-8024

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How Electric Fish Were Able to Evolve Electric Organs – UT News – University of Texas

Posted: June 4, 2022 at 2:40 am

Electric organs help electric fish, such as the electric eel, do all sorts of amazing things: They send and receive signals that are akin to bird songs, helping them to recognize other electric fish by species, sex and even individual. A new study in Science Advances explains how small genetic changes enabled electric fish to evolve electric organs. The finding might also help scientists pinpoint the genetic mutations behind some human diseases.

Evolution took advantage of a quirk of fish genetics to develop electric organs. All fish have duplicate versions of the same gene that produces tiny muscle motors, called sodium channels. To evolve electric organs, electric fish turned off one duplicate of the sodium channel gene in muscles and turned it on in other cells. The tiny motors that typically make muscles contract were repurposed to generate electric signals, and voila! A new organ with some astonishing capabilities was born.

This is exciting because we can see how a small change in the gene can completely change where its expressed, said Harold Zakon, professor of neuroscience and integrative biology at The University of Texas at Austin and corresponding author of the study.

In the new paper, researchers from UT Austin and Michigan State University describe discovering a short section of this sodium channel geneabout 20 letters longthat controls whether the gene is expressed in any given cell. They confirmed that in electric fish, this control region is either altered or entirely missing. And thats why one of the two sodium channel genes is turned off in the muscles of electric fish. But the implications go far beyond the evolution of electric fish.

This control region is in most vertebrates, including humans, Zakon said. So, the next step in terms of human health would be to examine this region in databases of human genes to see how much variation there is in normal people and whether some deletions or mutations in this region could lead to a lowered expression of sodium channels, which might result in disease.

The studys first author is Sarah LaPotin, a research technician in Zakons lab at the time of the research and currently a doctoral candidate at the University of Utah. In addition to Zakon, the studys other senior authors are Johann Eberhart, a professor of molecular biosciences at UT Austin, and Jason Gallant, associate professor of integrative biology at Michigan State University.

Zakon said the sodium channel gene had to be turned off in muscle before an electric organ could evolve.

If they turned on the gene in both muscle and the electric organ, then all the new stuff that was happening to the sodium channels in the electric organ would also be occurring in the muscle, Zakon said. So, it was important to isolate the expression of the gene to the electric organ, where it could evolve without harming muscle.

There are two groups of electric fish in the worldone in Africa and the other in South America. The researchers discovered that the electric fish in Africa had mutations in the control region, while electric fish in South America lost it entirely. Both groups arrived at the same solution for developing an electric organlosing expression of a sodium channel gene in musclethough from two different paths.

If you rewound the tape of life and hit play, would it play back the same way or would it find new ways forward? Would evolution work the same way over and over again? said Gallant, who breeds the electric fish from South America that were used in part of the study. Electric fish let us try to answer that question because they have repeatedly evolved these incredible traits. We swung for the fences in this paper, trying to understand how these sodium channel genes have been repeatedly lost in electric fish. It really was a collaborative effort.

One of the next questions the researchers hope to answer is how the control region evolved to turn on sodium channels in the electric organ.

Funding for this research was provided by the National Science Foundation and the National Institutes of Health.

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Survival of the Best: The Past, Present and Future of Plants – CSRwire.com

Posted: June 4, 2022 at 2:40 am

Published 06-02-22

Submitted by Bayer

The carrot on your plate might seem like the most simple thing in the world a hardy root that has nourished humans, from kings to peasants, for generations. But as humble as it seems, the common carrot long, orange and crunchy is actually just one result of a genetic engineering project that has been going on for the last ten thousand years. In the wild, carrots are small, pale and have thin, forked roots with a strong flavor. Only centuries of selective breeding for desirable traits has given us the carrot we see today.

The fact is, a huge amount of the fruit and vegetables we take for granted never looked that way to begin with. These are the results of the great story of human agriculture, a story in which our prehistoric ancestors methodically identified plants with desirable traits the biggest, most flavorsome, or most disease resistant and cross bred them.

While individually, the changes can be minor, over time, that process has radically reshaped what we put on our plates. Consider the brassica this single plant, carefully cultivated over centuries has given us kale, broccoli, brussels sprouts, cauliflower, cabbage and turnips.

But as remarkable as all this is, the story is far from over.

Modern Problems...

Prehistoric agriculturists made the breeding decisions they did to cope with their environment. When food was scarce, making that ear of corn more nutritious and more weather resistant could be the difference between life and death over a long and cold winter. Of course, these farmers didnt have a scientific understanding of the genetics underlying this process. Crop improvement was slow and produced random results, as genes interacted in unpredictable ways at the molecular level. Civilization and science have come a long way since then, but we face our own set of challenges.

"The world population is growing, and climate zones are changing constantly; with this there is more pressure on plants from diseases, and insects. We need scientific answers to these problems."Jonathan Jenkinson, Head of Product Design at Bayer

Theres also the small matter of commercial imperatives. It doesn't take a crop scientist to point out that we like to buy things that taste better, look edible and stay fresh on the shelf for longer, whatever the season. Probably the biggest thing that has happened to impact what's on your plate is the ability to grow and ship fruits and vegetables year round, says Tom Osborn, Head of Vegetable Analytics and Pipeline Design at Bayer.

In response, agricultural scientists and plant breeders continue to innovate, creating crop varieties adapted to different growing conditions around the world that are more nutritious, more resistant to drought, disease and other forms of environmental stress as well as prettier and tastier.

Need Modern Solutions

But unlike farmers of the past, todays plant scientists have a vastly expanded set of tools available to them, which they are using to transform how we practice plant breeding to improve the food supply.

Every year, Bayer deploys over 500 new hybrids and varieties across corn, cotton soybeans and vegetables

Phenotyping

Traditionally, the process by which farmers have bred plants has been phenotyping. Phenotyping means assessing a plant's expressed traits and then selecting the desired plants and seeds. In practical terms this means visually identifying differences within plants for example, selecting for desirable colors, sizes, or number of fruits.

Plants reproduce by pollinating themselves or each other, so all the traditional agriculturist needed was to plant the seeds of the healthiest of their crop, and then they would grow, and fertilize each other, leading to a new generation of plants with the range of inherited traits contained in the parents. Though an imprecise science selective breeding could often produce random results as breeders had limited knowledge of the genetic mechanisms at work over time it led to significantly improved products. However, traditional plant breeding has seen significant changes over the last 15 years due to the introduction of genetic sequencing.

Genotyping

Now rather than just being able to see the results of breeding through phenotyping, we can see what happens to the structure of DNA and know why these changes occur in the plant at a genetic level this is called genotyping. And thanks to recent developments in genetic science (three decades of rapid improvement in genetic technologies in order to understand human genetics and health), mapping out the DNA of humans, animals, plants and all living organisms is quicker and cheaper than ever.

This means that scientists are now using technology to identify individual genes within plants, giving them a deep understanding of exactly what clusters of DNA are responsible for certain traits and characteristics. This gives scientists an unprecedented ability to develop seed varieties for specific environments and markets.

Want a strain of corn that is specifically resistant to your drought? Thanks to genotyping, a plant breeder could go in and identify which parts of the DNA strand can give resistance to that, and only breed seeds with those genetics. Breeders can then select those seeds, and distribute them as a standalone or product.

Gene Editing

Gene editing has the potential to solve real challenges for farmers and the planet, like reducing the need for pesticides and the use of energy, land, and water. In agriculture, this process typically looks to improve a beneficial trait within an organism, or to remove an undesirable trait. For years, gene editing was done through selective breeding in plants. But now we can make changes with more precision than ever before.

Gene editing tools, like CRISPR, are already helping researchers to make improvements within plant DNA. These tools have the potential to offer unmatched precision to farmers, allowing them to grow enough food while confidently reducing their use of natural resources. Its important to note, as well, that although plant breeding is a form of genetic engineering, it is not the same as genetic modification, or GM.

Data Analytics

And its not just about the seeds themselves. Coupled with broader technological improvements into data gathering and analysis, the process by which genes are selected and new crops make it into fields and onto your table is more efficient than ever before. If we can use data to make a better decision today about which corn hybrids to produce over the winter, that can get us to a new commercial product much faster, says Jonathan Jenkinson.

For him, who spent years working on-site in plant breeding programs, the result is significant. When I started researching in the field, I had to save all the seed from every plot and put it in a bag, and then take it back to the building where our facilities were. That meant moving about 30 tons of seed by hand, in the form of little bags that weighed three kilograms each. And that, of course, slowed the time-to-market right down.

Thanks to the development of modern data capture and analytics techniques, today its a very different story and thats good news for global farmers who are looking for solutions. In the last 30 years, it's probably gone from a time to market of 11 to 13 years, down to 6 or 7 years, says Jonathan.

As communities continue to fight poverty, hunger and malnutrition, its our responsibility to expand the reach and impact of Bayers global breeding resources. We approach this in a number of ways, but chief among them are the ways that we work outside of our walls to improve the seeds available to global farmers including partnerships aimed at knowledge-sharing, and germplasm and data contributions.

Why Collaboration is Key

Innovations in plant breeding have advanced the prosperity of civilizations for centuries. Continuously improving seeds to grow more resilient and high-yielding, more nutritious crops remains one of agricultures strongest tools in fighting hunger and supporting the farmers who feed communities around the world. Bayer develops crops using cutting edge breeding technologies and an expansive library of germplasm. And even with the resources of a market leader, the challenges facing agriculture cant be tackled by a single player alone. Having diverse germplasm living genetic resources such as seeds or plant tissues that are maintained for the purpose of plant breeding and preservation to tap into when developing new seed varieties makes plant breeders more successful in solving the problems facing global farmers and thats where collaboration comes in.

And thats why Bayer contributes germplasm and genetic characterization data to other research programs around the world. The donation is intended to facilitate the incorporation of underutilized genetic diversity into modern maize breeding programs including organizations that help improve regional crops for smallholders based on regional needs.

Donating germplasm isnt the only way that Bayer collaborates. Since 2020, Bayer has partnered with the International Institute of Tropical Agriculture to launch the Modern Breeding Project, focused on realizing crop resilience and yield potential for cassava, maize, cowpea, banana, yam, and soybean to support crop productivity, economic growth, and poverty reduction for African agriculture.

The project builds capacity and scale by leveraging insights from Bayers breeding program models and best practices. Our shared goals in leveraging research and product development are providing new solutions towards food security and empowering African scientists and farmers, supporting Africa rising to achieve the grand challenges in the face of climate change while developing new ways of working in a dynamic food system, says Stella Salvo, Head of Breeding Partnerships for Smallholder Farming at Bayer. Our Bayer breeding teams engage in sharing best practices in breeding program management, design and use of digital tools that will support the IITAs research priorities and product outputs.

The Breeding Story Continues

And thats not all. Crop scientists currently consider themselves to be moving from the third generation of breeding, powered by genomic knowhow, and into a fourth generation. The goal is to build more flavorful, sustainable, and high yielding crops, which are more resilient against climate change from the ground up. And scientists they will do this for example by harnessing the targeted abilities of gene editing techniques.

I would say the fourth era of breeding will be what were calling precision breeding at Bayer, says Jonathan. Weve become really good at knowing how to find the best traits; that's what we perfected over the last 30 years. But precision breeding seeks to fundamentally change that entire approach. Instead of selecting the best traits, we are moving to an era where can actually design what's going to be the best from the very beginning.

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Bayer: Science For A Better Life

Bayer is a global enterprise with core competencies in the Life Science fields of health care and agriculture. Its products and services are designed to benefit people and improve their quality of life. At the same time, the Group aims to create value through innovation, growth and high earning power. Bayer is committed to the principles of sustainable development and to its social and ethical responsibilities as a corporate citizen. In fiscal 2015, the Group employed around 117,000 people and had sales of EUR 46.3 billion. Capital expenditures amounted to EUR 2.6 billion, R&D expenses to EUR 4.3billion. These figures include those for the high-tech polymers business, which was floated on the stock market as an independent company named Covestro on October 6, 2015. For more information, go to http://www.bayer.com.

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AMGEN ANNOUNCES WEBCAST OF 2022 JEFFERIES HEALTHCARE CONFERENCE | News | wfmz.com – 69News WFMZ-TV

Posted: June 4, 2022 at 2:40 am

THOUSAND OAKS, Calif., June 3, 2022 /PRNewswire/ -- Amgen (NASDAQ:AMGN) will present at the 2022 Jefferies Healthcare Conference at 9:30 a.m. ET on Wednesday, June 8, 2022. Murdo Gordon, executive vice president of Global Commercial Operations at Amgen will present at the conference. The webcast will be broadcast over the internet simultaneously and will be available to members of the news media, investors and the general public.

The webcast, as with other selected presentations regarding developments in Amgen's business given by management at certain investor and medical conferences, can be found on Amgen's website, http://www.amgen.com, under Investors. Information regarding presentation times, webcast availability and webcast links are noted on Amgen's Investor Relations Events Calendar. The webcast will be archived and available for replay for at least 90 days after the event.

About Amgen

Amgen is committed to unlocking the potential of biology for patients suffering from serious illnesses by discovering, developing, manufacturing and delivering innovative human therapeutics. This approach begins by using tools like advanced human genetics to unravel the complexities of disease and understand the fundamentals of human biology.

Amgen focuses on areas of high unmet medical need and leverages its expertise to strive for solutions that improve health outcomes and dramatically improve people's lives. A biotechnology pioneer since 1980, Amgen has grown to beone ofthe world'sleadingindependent biotechnology companies, has reached millions of patients around the world and is developing a pipeline of medicines with breakaway potential.

Amgen is one of the 30 companies that comprise the Dow Jones Industrial Average and is also part of the Nasdaq-100 index. In 2021, Amgen was named one of the 25 World's Best Workplaces by Fortune and Great Place to Work and one of the 100 most sustainable companies in the world by Barron's.

For more information, visitwww.amgen.comand follow us onwww.twitter.com/amgen.

CONTACT: Amgen, Thousand Oaks

Megan Fox, 805-447-1423 (media)

Jessica Akopyan, 805-447-0974 (media)

Arvind Sood, 805-447-1060 (investors)

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Experts Discover New Disease Caused by Faulty Genes Affecting the Kidney and Liver: Newcastle University Study – Nature World News

Posted: June 4, 2022 at 2:40 am

A new disease affecting the kidney and the liver was identified by scientists from Newcastle University in Tyne, England.

As part of their new study, the experts narrowed down behind previously mysterious organ fibrosis and ciliopathy triggered by genetic mutations.

Specifically, the breakthrough research provides insight for patients with unexplained liver and kidney problems.

This entailed that the discovered disease is inherited rather than acquired through an individual's lifespan factored by lifestyle and the environment.

Chronic kidney and liver diseases are one of the main causes of illnesses and deaths worldwide.

While non-genetic acquisition of the disease is preventable through early detection or a healthy lifestyle, the new UK-based study offers a potential escape for people afflicted with the chronic condition since birth.

(Photo : Photo by Raul Sifuentes/Getty Images)

In a new academic paper published in the American Journal of Human Genetics (AJDH)on May 5, the researchers explored organ fibrosis and described it as a shared terminus of various diseases.

However, the experts claimed that we do not fully understand yet the underlying biological processes of the new disease.

In particular, the study focused on the progressive heart, kidney, and liver degeneration amongst children and adults.

Through genetic sequencing, the Newcastle University experts found these medical conditions are caused by the mutation of a gene called TUB Like Protein 3 (TULP3).

The ground-breaking discovery led to the identification of the new liver and kidney disease caused by the inherited and mutated form of TULP3.

The gene is associated with cilium or cilia, characterized as hair-like structures outside eukaryotic cells, ranging from the cell body to the fluid surrounding the cell, according to a separate study published in the journal Bio Sciencein November 2014.

Spearheaded by Professor John Sayer, the deputy dean of clinical medicine at Newcastle University, the new study was funded through the Genomics England's 100,000 Genomes Project.

It was also co-funded by the Kidney Research UK and the Northern Counties Kidney Research Fund.

Also Read:13 Hospitalized, One Dead as Rare Disease From Rat Urine Plague New York City

According to a press release by the Newcastle Universityregarding its study on May 26, "a faulty gene is the catalyst for the increased risk of organ fibrosis targeting the liver and kidney."

The disease is collectively called as TULP3-related ciliopathy, a genetic disorder affecting the cellular cilia of the body.

Multiple studies generally agree that ciliopathy or ciliopathies are a group of genetic human diseases with a damaged or defective cilia.

In relation to the new study, the UK-based researchers determined that the TULP3-related ciliopathy is a monogentic cause of progressive degenerative disease affecting the major organs of the body.

According to the National Kidney Foundation, 10% of the world's population are affected with chronic kidney disease (CKD) and millions of patients die each year due to their inability to access affordable treatment.

The organization emphasizes only 2 million people globally receive such treatment for kidney failure in five countries, including the United States, Brazil, Germany, Italy, and Japan.

The limited treatment of CKD stems from the mentioned countries' universal health care, especially for the old age group.

Related Article:For People with Pre-Existing Liver Disease, Toxic Algae May Be More Dangerous

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At-Home Colorectal Cancer Testing and Follow-Up Vary by Ethnicity – Medscape

Posted: June 4, 2022 at 2:40 am

Doctors were significantly less likely to order colorectal cancer screening with the at-home test Cologuard (Exact Sciences Corp) for Black patients and were more likely to order the test for Asian patients, new evidence reveals.

Investigators retrospectively studied 557,156 patients in the Mayo Clinic health system from 2012 to 2022. They found that Cologuard was ordered for 8.7% of Black patients, compared to 11.9% of White patients and 13.1% of Asian patients.

Both minority groups were less likely than White patients to undergo a follow-up colonoscopy within 1 year of Cologuard testing. Cologuard tests the stool for blood and DNA markers associated with colorectal cancer.

Although the researchers did not examine the reasons driving the disparities, lead investigator Ahmed Ouni, MD, told Medscape Medical News that "it could be patient preferences...or there could be some bias as providers ourselves in how we present the data to patients."

Ouni presented the findings on May 22 at Digestive Disease Week (DDW) 2022, held in person in San Diego and virtually.

"We looked at the specialty of physicians ordering these because we wanted to see where the disparity was coming from, if there was a disparity," said Ouni, a gastroenterologist at Mayo Clinic in Jacksonville, Florida.

Just over half (51%) of the patients received care from family medicine physicians, 27% received care from internists, and 22% were seen by gastroenterologists.

Family physicians ordered Cologuard testing for 8.7% of Black patients, compared to 16.1% of White patients, a significant difference (P< .001). Internists ordered the test for 10.5% of Black patients and 11.1% of White patients (P< .001). Gastroenterologists ordered Cologuard screening for 2.4% of Black patients and 3.2% of White patients (P=.009).

Gastroenterologists were 47% more likely to order Cologuard for Asian patients, and internists were 16% more likely to order it for this population than for White patients. However, the findings were not statistically significant for the overall cohort of Asian patients when the researchers adjusted for age and sex (P = 0.52).

Black patients were 25% less likely to have a follow-up colonoscopy within 1 year of undergoing a Cologuard test (odds ratio [OR], 0.75; 95% CI, 0.60 0.94), and Asian patients were 35% less likely (OR, 0.65; 95% CI, 0.52 0.82).

Of the total study population, only 2.9% self-identified as Black; according to the 2020 US Census, 12.4% of the population of the United States are Black persons.

When asked about the relatively low proportion of Black persons in the study, Ouni replied that the investigators are partnering with a Black physician group in the Jacksonville, Florida, area to expand the study to a more diverse population.

Additional plans include assessing how many positive Cologuard test results led to follow-up colonoscopies.

The investigators are also working with family physicians at the Mayo Clinic to examine how physicians explain colorectal cancer screening options to patients and are studying patient preferences regarding screening options, which include Cologuard, fecal immunochemical test (FIT)/fecal occult blood testing, CT colonography, and colonoscopy.

"We're analyzing the data by ZIP code to see if this could be related to finances," Ouni added. "So, if you're Black or White and more financially impoverished, how does that affect how you view Cologuard and colorectal cancer screening?"

"Overall this study supports other studies of a disparity in colorectal cancer screening for African Americans," John M. Carethers, MD, told Medscape Medical News when asked to comment. "This is known for FIT and colonoscopy, and Cologuard, which is a genetic test in addition to FIT, appears to be in that same realm.

"Noninvasive tests will have a role to reach populations who may not readily have access to colonoscopy," said Carethers, John G. Searle Professor and chair of the Department of Internal Medicine and professor of human genetics at the University of Michigan in Ann Arbor. "The key here is if the test is positive, it needs to be followed up with a colonoscopy."

Carethers added that the study raises some unanswered questions, for example, Does the cost difference between testing options make a difference?

"FIT is under $20, but Cologuard is generally $300 or more," he said. What percentage of the study population were offered other options, such as FIT? How does insurance status affect screening in different populations?

"The findings should be taken in context of what other screening options were offered to or elected by patients," agreed Gregory S. Cooper, MD, professor of medicine and population and quantitative health sciences at Case Western Reserve University and a gastroenterologist at University Hospitals Cleveland Medical Center in Ohio.

According to guidelines, patients can be offered a menu of options, including FIT, colonoscopy, and Cologuard, Cooper told Medscape Medical News.

"If more African Americans elected colonoscopy, for example, the findings may balance out," said Cooper, who was not affiliated with the study. "It would also be of interest to know if the racial differences changed over time. With the pandemic, the use of noninvasive options, such as Cologuard, have increased."

"I will note that specifically for colonoscopy in the United States, the disparity gap had been closing from about 15% to 18% 20 years ago to about 3% in 2020 pre-COVID," Carethers added. "I am fearful that COVID may have led to a widening of that gap again as we get more data.

"It is important that noninvasive tests for screening be a part of the portfolio of offerings to patients, as about 35% of eligible at-risk persons who need to be screened are not screened in the United States," Carethers said.

The study was not industry sponsored. Ouni and Carethers report no relevant financial relationships. Cooper has received consulting fees from Exact Sciences Corp.

Digestive Disease Week (DDW) 2022: Abstract Su1012. Presented May 22, 2022.

Damian McNamara is a staff journalist based in Miami. He covers a wide range of medical specialties, including infectious diseases, gastroenterology, and critical care. Follow Damian on Twitter: @MedReporter.

For more news, follow Medscape on Facebook, Twitter, Instagram, and YouTube.

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Who is your real parent? Our Father on Netflix depicts the dark side of ‘secret serial sperm donation’. My birth has a similar origin but with a more…

Posted: June 4, 2022 at 2:39 am

Our Father is difficult to watch, especially if youve suddenly discovered as an adult that you have a never-known family of half-siblings, cousins, nieces, and nephews thanks to a long-ago sperm donation. One review dubs the series Netflixs most gruesome real-life documentary yet.

It tells the tale of Indianapolis fertility physician Donald Cline, who used his sperm to inseminate at least 96 women (and counting) between 1979-1986. After years of being in the dark, the offspring have found each other thanks to diligent sleuthing by some of the half-siblings and DNA testing.

The majority of us live in a 25-mile radius, some within minutes of Cline. I walk around and I could be related to anyone. Ive probably met half sibs and we dont even know it, said a son named Guy.

Dr. Cline told many of his patients that he would be using sperm from a medical student or resident, and that no donor would be used for more than three women. The nefarious donations went on for so long in the small town that he used his sperm to inseminate his own daughter!

The Our Father series is in part a detective storythe sleuthing work of Jacoba Ballard, a young woman who was the first to uncover the physicians deception. When aDNA test revealed she had seven relatives in nearby parts of Indiana, she knew something was wrong.

It was a sick feeling, Jacoba said. What she unraveled was shocking: besides finding sisters and brothers with whom she shared a quarter of their DNA, each victim had a mother whod sought fertility treatment from Dr. Cline.

How did these suddenly-bonded young adults unravel the rest of the mystery? Figuring out familial relationships begins with more sleuthing than science. Newbie sibs zero in on the donor by identifying relatives whove tested and with whom everyone matches. Then, they trace backwards and start asking older relatives questions.

Things got complicated at times. Jacoba identified a second cousin they all matched with on 23andMe whos related to someone with the same surname as Dr. Clines mothers maiden name. Dr. Cline was indeed the cousins cousin, and yes, hes a doctor.

Right then my stomach dropped because she confirmed what we already knew but were hoping wasnt true, that Dr. Donald Cline could be our biological father, she says in the documentary. I was in shock. So many emotions, so many questions. He lied about a donor being used. Why did he do it? How long did he do it? How many siblings do we have? Jacoba recalls.

Our Father is also the story of local FOX 59 TV journalist Angela Ganote. She began unearthing the story in February 2015. At first she had great difficulty getting information from local authorities. But once the station began airing her interviews with Jacoba, at least one half-sib stared at her screen and thought she was looking at a twin. Many of them share blond hair and blue eyes.

The documentary opens with a hallway lined with photos of babies. Objects and imagery from Christianity are everywhere; the doctor was a marriage counselor and Sunday school teacher. A placard quotes Jeremiah 1:5,

God Knew Me Before I Was Born: Before I formed you in the womb I knew you, and before you were born, I consecrated you; I appointed you a prophet to the nations.

Then the camera pans to a sterile exam room with illustrations of uteri festooning the walls. Photos of kids are tacked to bulletin boards; lots of little blonds a la The Boys from Brazil.

The story unfolds in interviews with parents, kids, and co-workers. Numbers interrupt the narrative as test results reveal more offspring, up to #96.

A nurse who worked for Dr. Cline from 1981 to 1994 tells how it all happened. She gave patients questionnaires about traits they desired in a donor. Then shed go across the way to a hospital to collect samples from medical residents. Some couples would bring in a sperm sample, perhaps told that that it would be used or mixed with donor sperm.

A former physician colleague backs up the stories from the nurse, patients, and offspring. He adds how the layout of the office suite enabled Dr. Cline to collect and deliver his donations.

But the hospital samples were never used. In fact, Cline would have had to masturbate somewhere nearby while the women were waiting insemination. He would likely still be experiencing the after-effects of arousal as he was inserting the semen, one daughter said.

She recalled that shed be the only patient in the office, and the doc would duck out while she arranged herself in the stirrups.

Hed place his semen into a syringe and then place it at the base of my cervix. The fact that he was still on an endocrine high from ejaculation has no place in a medical setting. When my sons DNA test came back, my first words were I was raped and didnt even know it.

Added Jacoba,

What made him wake up every day and go into work and masturbate and place it into women without their consent?

But if the goal was to make his patients pregnant, the doctor did. The fact that he used his specimen to impregnate me made me sick to my stomach. On the other hand, because of his skills, I have twin daughters who are absolutely delightful. You cant be angry when you have what you always dreamed of, said one former patient.

Jacobas half-siblings share their emotional ups and downs, their words eerily echoing my own as I have struggled to accept, beginning in September 2018, that I, too, have a mystery family, the result of mysterious sperm donations. Since then, Ive been on several Facebook groups for NPEs not parent expected and read many stories, but none on the scale of Our Father.

It helps to connect with others. Especially useful was a recent study in the American Journal of Human Genetics from Christi Guerrini JD, MPH, from the Center for Medical Ethics and Health Policy at Baylor College of Medicine, Family secrets: Experiences and outcomes of participating in direct-to-consumer genetic relative-finder services. I wrote about it here.

As I watched the progam and saw the numbers tick up for Dr. Clines offspring, my empathy for their angst began to ebb. Their reactions were overwhelmingly of anger and negativity, or at least that is what dominated Our Father. Perhaps it was like a Facebook page for people with the same disease dominated by those with the most dire experiences. I couldnt help but wonder without the horrifically egocentric fertility doctor, those half-siblings wouldnt exist.

Consider some of their comments:

Some of them recognize past clues and present commonalities:

Some of the siblings saw something more sinister. Every time we get a DNA match, we say it looks like one of the Cline boys or it looks like a Cline girl. Most of us have blond hair and blue eyes. I hate to say this, but it is almost like we are this perfect Aryan clan and its disgusting. The goal appeared to be to produce more whites because whites would eventually disappear.

All of the photos in the office were of Caucasian babies, said a sister named Julie. Added Jacoba, You wonder if the person who created you was a racist bigot who used my mom as a pawn, and he did it over and over and over again.

The Nazi hypothesis is as opposite as possible from the motivation behind some of the thousands of surprise-donor-conceived offspring like me from the New York City area, from the 1950s and 1960s. Our existence, in some cases, grew out of a desire to replace some of the six million Jews the Nazis killed during the second world war.

The number of Dr. Clines offspring may not even be known or knowable. But he did the deed. When forced to provide a DNA sample, the results showed that the probability that Jacoba is his biological child was beyond doubt: 99.9997 percent.

But in the end, he wasnt punished much. In 2016, Cline was only charged with two counts of obstruction of justice, to which he plead guilty. Technically, the court found, he wasnt sexually violating the women because they were his patients and had given permission. Although some of his offspring feel that their mothers had been raped, legally that claim couldnt hold up.

Dr. Cline was sentenced as a level 6 felon and fined $500, which is a slap in the fing face, said Jacoba.

But progress has been made. In 2018 illicit donor insemination became illegal in Indiana, although theres still no federal law. And dozens of more doctors have been caught using their own sperm.

My reactions to discovering one-half of my genetic parentage was different than the siblings in my father. Ive shared my story in Libby Copelands book The Lost Family, in several blog posts and articles for Genetic Literacy Project and with the New York Times Modern Love Podcast.

The feelings among my half-siblings vary.

Who was our biological father? Weve narrowed down our sperm donor to two of three brothers from a wonderful family that were excited to be part of, even in such a strange way. We look a lot alike. And well have an answer pretty soon, pending a recent match that filled in a few blanks, and also led to the discovery of a wonderful new cousin, half-niece, and possible brother or cousin.

Its weird, and adjusting took time, but Im thankful. Now that were at an age when we are starting to lose people, finding new siblings is a great gift. Thats no solace to many of the aggrieved victims of the deeply deceptive Dr. Cline. But it does illustrate that the proliferation of DNA tests can, in some circumstances, bring some joy and help expand a sense of family.

Ricki Lewis, PH.D is a writer for PLOS and author of the book The Forever Fix: Gene Therapy and the Boy Who Saved It. You can check out Rickiswebsiteand follow Ricki on Twitter@rickilewis

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Who is your real parent? Our Father on Netflix depicts the dark side of 'secret serial sperm donation'. My birth has a similar origin but with a more...

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