Category Archives: Human Genetics

Data for a new gene-function map are available for other scientists to use. Its a big resource in the way the human genome is a big resource, in that you can go in and do discovery-based research, says Professor Jonathan Weissman.

Scientists used their single-cell sequencing tool Perturb-seq on every expressed gene in the human genome, linking each to its job in the cell.

Genetics research has advanced rapidly over the last few decades. For example, just a few months ago scientists announced the first complete, gap-free human genome sequencing. Now researchers have advanced again, creating the first comprehensive functional map of genes that are expressed in human cells.

The Human Genome Project was an ambitious initiative to sequence every piece of human DNA. The project drew together collaborators from research institutions around the world, including MITs Whitehead Institute for Biomedical Research, and was finally completed in 2003. Now, over two decades later, MIT Professor Jonathan Weissman and colleagues have gone beyond the sequence to present the first comprehensive functional map of genes that are expressed in human cells. The data from this project, published online on June 9, 2022, in the journal Cell, ties each gene to its job in the cell, and is the culmination of years of collaboration on the single-cell sequencing method Perturb-seq.

The data are available for other scientists to use. Its a big resource in the way the human genome is a big resource, in that you can go in and do discovery-based research, says Weissman, who is also a member of the Whitehead Institute and an investigator with the Howard Hughes Medical Institute. Rather than defining ahead of time what biology youre going to be looking at, you have this map of the genotype-phenotype relationships and you can go in and screen the database without having to do any experiments.

CRISPR, which stands for clustered regularly-interspaced short palindromic repeats, a genome editing tool invented in 2009 made it easier than ever to edit DNA. It is easier, faster, less expensive, and more accurate than previous genetic editing methods.

The screen allowed the researchers to delve into diverse biological questions. They used it to explore the cellular effects of genes with unknown functions, to investigate the response of mitochondria to stress, and to screen for genes that cause chromosomes to be lost or gained, a phenotype that has proved difficult to study in the past. I think this dataset is going to enable all sorts of analyses that we havent even thought up yet by people who come from other parts of biology, and suddenly they just have this available to draw on, says former Weissman Lab postdoc Tom Norman, a co-senior author of the paper.

Pioneering Perturb-seq

The project takes advantage of the Perturb-seq approach that makes it possible to follow the impact of turning on or off genes with unprecedented depth. This method was first published in 2016 by a group of researchers including Weissman and fellow MIT professor Aviv Regev, but could only be used on small sets of genes and at great expense.

The massive Perturb-seq map was made possible by foundational work from Joseph Replogle, an MD-PhD student in Weissmans lab and co-first author of the present paper. Replogle, in collaboration with Norman, who now leads a lab at Memorial Sloan Kettering Cancer Center; Britt Adamson, an assistant professor in the Department of Molecular Biology at Princeton University; and a group at 10x Genomics, set out to create a new version of Perturb-seq that could be scaled up. The researchers published a proof-of-concept paper in Nature Biotechnology in 2020.

The Perturb-seq method uses CRISPR-Cas9 genome editing to introduce genetic changes into cells, and then uses single-cell RNA sequencing to capture information about the RNAs that are expressed resulting from a given genetic change. Because RNAs control all aspects of how cells behave, this method can help decode the many cellular effects of genetic changes.

Since their initial proof-of-concept paper, Weissman, Regev, and others have used this sequencing method on smaller scales. For example, the researchers used Perturb-seq in 2021 to explore how human and viral genes interact over the course of an infection with HCMV, a common herpesvirus.

In the new study, Replogle and collaborators including Reuben Saunders, a graduate student in Weissmans lab and co-first author of the paper, scaled up the method to the entire genome. Using human blood cancer cell lines as well noncancerous cells derived from the retina, he performed Perturb-seq across more than 2.5 million cells, and used the data to build a comprehensive map tying genotypes to phenotypes.

Delving into the data

Upon completing the screen, the researchers decided to put their new dataset to use and examine a few biological questions. The advantage of Perturb-seq is it lets you get a big dataset in an unbiased way, says Tom Norman. No one knows entirely what the limits are of what you can get out of that kind of dataset. Now, the question is, what do you actually do with it?

The first, most obvious application was to look into genes with unknown functions. Because the screen also read out phenotypes of many known genes, the researchers could use the data to compare unknown genes to known ones and look for similar transcriptional outcomes, which could suggest the gene products worked together as part of a larger complex.

The mutation of one gene called C7orf26 in particular stood out. Researchers noticed that genes whose removal led to a similar phenotype were part of a protein complex called Integrator that played a role in creating small nuclear RNAs. The Integrator complex is made up of many smaller subunits previous studies had suggested 14 individual proteins and the researchers were able to confirm that C7orf26 made up a 15th component of the complex.

They also discovered that the 15 subunits worked together in smaller modules to perform specific functions within the Integrator complex. Absent this thousand-foot-high view of the situation, it was not so clear that these different modules were so functionally distinct, says Saunders.

Another perk of Perturb-seq is that because the assay focuses on single cells, the researchers could use the data to look at more complex phenotypes that become muddied when they are studied together with data from other cells. We often take all the cells where gene X is knocked down and average them together to look at how they changed, Weissman says. But sometimes when you knock down a gene, different cells that are losing that same gene behave differently, and that behavior may be missed by the average.

The researchers found that a subset of genes whose removal led to different outcomes from cell to cell were responsible for chromosome segregation. Their removal was causing cells to lose a chromosome or pick up an extra one, a condition known as aneuploidy. You couldnt predict what the transcriptional response to losing this gene was because it depended on the secondary effect of what chromosome you gained or lost, Weissman says. We realized we could then turn this around and create this composite phenotype looking for signatures of chromosomes being gained and lost. In this way, weve done the first genome-wide screen for factors that are required for the correct segregation of DNA.

I think the aneuploidy study is the most interesting application of this data so far, Norman says. It captures a phenotype that you can only get using a single-cell readout. You cant go after it any other way.

The researchers also used their dataset to study how mitochondria responded to stress. Mitochondria, which evolved from free-living bacteria, carry 13 genes in their genomes. Within the nuclear DNA, around 1,000 genes are somehow related to mitochondrial function. People have been interested for a long time in how nuclear and mitochondrial DNA are coordinated and regulated in different cellular conditions, especially when a cell is stressed, Replogle says.

The researchers found that when they perturbed different mitochondria-related genes, the nuclear genome responded similarly to many different genetic changes. However, the mitochondrial genome responses were much more variable.

Theres still an open question of why mitochondria still have their own DNA, said Replogle. A big-picture takeaway from our work is that one benefit of having a separate mitochondrial genome might be having localized or very specific genetic regulation in response to different stressors.

If you have one mitochondria thats broken, and another one that is broken in a different way, those mitochondria could be responding differentially, Weissman says.

In the future, the researchers hope to use Perturb-seq on different types of cells besides the cancer cell line they started in. They also hope to continue to explore their map of gene functions, and hope others will do the same. This really is the culmination of many years of work by the authors and other collaborators, and Im really pleased to see it continue to succeed and expand, says Norman.

Reference: Mapping information-rich genotype-phenotype landscapes with genome-scale Perturb-seq by Joseph M. Replogle, Reuben A. Saunders, Angela N. Pogson, Jeffrey A. Hussmann, Alexander Lenail, Alina Guna, Lauren Mascibroda, Eric J. Wagner, Karen Adelman, Gila Lithwick-Yanai, Nika Iremadze, Florian Oberstrass, Doron Lipson, Jessica L. Bonnar, Marco Jost, Thomas M. Norman and Jonathan S. Weissman, 9 June 2022, Cell.DOI: 10.1016/j.cell.2022.05.013

View post:
New Comprehensive Map Ties Every Human Gene to Its Function - SciTechDaily

The work of Michael Woodley, a 38-year-old British academic, was credited in Payton S. Gendrons proclamation posted online.

The lengthy manifesto posted online by Payton S. Gendron, the 18-year-old mass murderer who killed 10 Black people in Buffalo last month, is exposing some of the racist research taking place at universities around the world.

The New York Times reported Thursday that the work of Michael Woodley, a 38-year-old British academic, was credited in Gendrons proclamation. Woodley claimed that there had been an I.Q. drop in France, which he attributed to migration from North Africa. Further, he has co-written literature declaring a global intelligence decline and supports theories dividing humanity into subspecies, which is a linchpin of white supremacist belief.

The manifesto posted online by Payton S. Gendron (right), the mass murderer who killed 10 Black people in Buffalo, New York, last month, is exposing some of the racist and extremist research taking place at universities around the world. (Photo: Mark Mulville/AP)

Woodley has been affiliated with some the most prestigious universities in the world, and the inclusion of his work in Gendrons manifesto is giving other academics the fuel to publicly denounce Woodleys extremist research.

The Times referenced one population genetics researcher, Alex Mas Sandoval of the University of Bologna, who said that he was appalled to hear that Woodley was credited by Gendron. Sandoval said the killer decontextualized scientific conclusions, noting that Woodleys area of expertise is plant ecology yet his research expanded to human genetics and intelligence.

Woodley has been explicitly racist, Sandoval maintained, per The Times. He has a history of spreading racist, white supremacist theories. He is questioning a consensus based on decades of research.

Sandoval started a petition online to get Woodley suspended and his Ph.D. revoked. Woodleys research is being dissected after Gendron cited it before murdering 10 and wounding three others in a Buffalo, New York, supermarket. The Vrije Universiteit Brussel suspended its relationship with Woodley after a newspaper wrote that it was shocked that an element from a paper by the researcher appeared in Gendrons manifesto.

Story continues

Woodley declined to comment to The Times, but the newspaper contends that his colleagues described him as absolutely devastated by the turn of events. Others note that his far-right politics is a clarion call in academia.

I do think things have changed in recent years, partly because of political discourse, said British journalist Angela Saini, the author of Superior: The Return of Race Science. And with the rise of ethnic nationalism and the far right, we have become more aware of just how risky, how dangerous these people are. They gained a huge following over the years.

Meanwhile, Gendron has been charged with hate-motivated domestic terrorism, first-degree murder, attempted murder and murder as a hate crime in a 25-count indictment after he opened fire on grocery shoppers and working employees at Tops Friendly Market on May 14.

He has pleaded not guilty.

TheGrio is FREE on your TV via Apple TV, Amazon Fire, Roku and Android TV. Also, please download theGrio mobile apps today!

The post Buffalo shooters manifesto quoted a university researcher. Thats raising questions about racism in academia appeared first on TheGrio.

See more here:
Buffalo shooters manifesto quoted a university researcher. Thats raising questions about racism in academia - Yahoo News

Thalidomide is infamous for causing tragic birth defects in the late 1950s and early 1960s, when it was marketed as a sedative and treatment for morning sickness in pregnant women.

The drug inhibits the formation of blood vessel (angiogenesis), but theres now interest in whether thalidomide could be used therapeutically when inhibition of this process could be beneficial.

A small study in 18 patients with severe arteriovenous malformations (AVMs) has now shown that treatment with thalidomide can result in a striking reduction in symptoms and a subsequent improvement of quality of life.

The research has been published in Nature Cardiovascular Research and will be presented on June 12 at the annual conference of the European Society for Human Genetics in Vienna, Austria.

Our group has been studying the causes of vascular abnormalities for 30 years. We have identified several genetic causes and have been able to show that certain mutations activate the signalling inside the blood vessel wall cells, and this promotes the abnormal formation of blood vessels, says Miikka Vikkula, professor of human genetics at the De Duve Institute at the Catholic University of Louvain, Belgium.

This led us to wonder about the possibility of using thalidomide to inhibit abnormal blood vessel formation.

This is because thalidomide inhibits the expression of vascular endothelial growth factor (VEGF), a signalling protein that promotes the growth of new blood vessels.

VEGF levels are high in vascular abnormalities such as AVMs and it is therefore likely that thalidomide reduces signalling via the angiogenesis-promoting pathways.

Get an update of science stories delivered straight to your inbox.

AVMs are abnormal tangles of the blood vessels connecting arteries and veins that alter normal blood flow. They are very painful, and cause bleeding and deformation of the affected body part as well as cardiac problems.

Severe cases are usually treated through surgery or embolism (the injection of an agent that destroys the blood vessels locally) but this causes scar tissue to form, is rarely totally effective, and can even make the problem worse.

After having shown that it could work in a mouse model, the researchers recruited 18 patients aged between 19 and 70 years of age with AVMs that could not be treated by conventional approaches to receive doses of either 50, 100 or 200 milligrams of thalidomide per day for between 2 and 52 months.

They all had to agree to use contraception for at least four weeks before and after finishing treatment.

All the patients experienced a rapid reduction of pain, together with cessation of bleeding and the healing of ulcers where these were present, says Vikkula. The three patients with cardiac failure also saw their problems resolved, and one AVM appeared to be completely cured after 19 months of thalidomide and an eight-year follow-up.

Combining the treatment with embolism allowed the dosage of thalidomide to be reduced to 50mg per day, which was important as a higher dose was associated with side-effects like tiredness and peripheral neuropathy damage to the nerves located outside the brain and spinal cord that causes weakness and numbness, particularly in the hands and feet.

We had hypothesised that thalidomide should work in these patients, so our results did not come as a surprise, but it was great to have clinical confirmation that we were right, concludes Vikkula. In our view, this is a breakthrough finding and provides a solid basis for the development of molecular treatments for AVMs.

Professor Alexandre Reymond, chair of the conference, adds: This study shows not only the healthcare and economic benefits of repurposing drugs even the most maligned but also how genetic research can lead to real breakthroughs in therapies for difficult to treat, distressing conditions.

See the article here:
Thalidomide could be used as a therapeutic for AVMs - Cosmos

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.

See the original post:
How Electric Fish Were Able to Evolve Electric Organs - UT News - University of Texas

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.

View original content here

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.

More from Bayer

See the rest here:
Survival of the Best: The Past, Present and Future of Plants - CSRwire.com

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)

View original content to download multimedia:https://www.prnewswire.com/news-releases/amgen-announces-webcast-of-2022-jefferies-healthcare-conference-301561169.html

SOURCE Amgen

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

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.

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

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

2022 NatureWorldNews.com All rights reserved. Do not reproduce without permission.

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

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

See more here:
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...

Evan Eichler

Professor, University of Washington

It has been more than 20 years since scientists announced the completion of the Human Genome Project even though the $3 billion effort to sequence the 3 billion bases of human DNA was not, in fact, complete. Technological limitations meant that roughly 8 percent of the genome remained a mystery.

In April, the Telomere-to-Telomere Consortium closed nearly all the gaps, adding roughly 200 million bases of genetic information that codes for more than 1,900 genes.

This new treasure trove of data, detailed in six papers in Science, stands to advance autism research, says Evan Eichler, professor of genome sciences at the University of Washington in Seattle.

Spectrum spoke with Eichler, who was part of the Human Genome Project and the Telomere-to-Telomere Consortium, about what secrets may emerge from once-murky regions of the genome.

This interview has been edited for length and clarity.

Spectrum: How will having a more complete human genome affect autism research?

Evan Eichler: Because our reference genome was incomplete, some gene sequences were not correctly mapped to their place in the genome. So when we would find a variant in an autism genome that was missing from the reference genome, we didnt always know where it was or which gene or genes it affected. This new telomere-to-telomere draft improves mapping across the board. The sequences we gather from people with autism are now more likely to be mapped to the right place.

One phenomenon often associated with autism is the deletion or duplication of DNA, known as copy number variation (CNV). In our recent paper in Science, we analyzed the new telomere-to-telomere data and found that it was a better predictor of true copy number 9 times out of 10 when compared with the old reference. That means were in a much better position to assess CNVs, which we know to contribute to autism, than with the old reference that was full of holes.

S: How was this updated human genome sequence produced differently from previous ones?

EE: We typically sequence autism genomes with short reads, which are just a few hundred bases long. When we do this, were missing genetic variation that occur over long stretches of DNA, particularly structural variation such as large deletions, duplications and rearrangements of DNA. We have previously shown that about 75 percent of all structural variation in the human genome goes undetected if we rely only on short-read data. Roughly 10 percent of autism cases stem from known structural variation in DNA. If we can sequence the genomes of autism families with long reads, many thousands of bases long, we can explore the 75 percent of structural variation that was previously undetected and potentially find more genetic causes of autism.

S: Are there potentially new autism-linked genes in the more complete genome?

EE: About 500 genes have been mapped to complex regions of the new reference genome that were previously excluded from sequencing studies because our techniques didnt reliably map there. Among those genes are ones important for brain function, such as SRGAP2C. The number of copies of this gene influences where, how and when dendrites form during development, which influences the density and strength of synaptic connections. Its a gene incredibly important to brain function, whose duplicate copies we couldnt reliably detect with short reads.

Another gene, ARHGAP11B on chromosome 15, was previously found to be deleted in two people with autism and intellectual disability. Its known to increase neuronal stem cell division during development. That gene is typically not studied in autistic people because it was mapped to very repetitive regions of the genome that previous genome-sequencing techniques skipped over entirely.

S: What could we learn about autism from the dark regions of the human genome that do not code for proteins?

EE: DNA that makes up the short arms of human chromosomes, called acrocentric DNA, may be important in autism. Those stretches were only sequenced in the last year or so of the Telomere-to-Telomere project.

There are gene families in acrocentric DNA that encode rDNA, which helps form the ribosomes that produce proteins in cells. We know autism is often linked with having too many or too few copies of genes; acrocentric DNA is another category of DNA we can now analyze for the same problem. If we can compare the rDNA of people with autism with that of neurotypical individuals, any differences we see may help us understand the chances of developing autism.

S: Now that we have a new reference genome, will some autism studies need to be repeated?

EE: Yes, well need to run all autism genomes against this new, more complete reference genome. Im particularly interested in looking for variations in genes on the X chromosome, which is linked with sex. There are significant sex differences in boys versus girls when it comes to autism, with boys four times more likely to be autistic than girls. Now, with the new reference genome, we can detect copy number variations and other genetic variation better than before, including on the X chromosome.

We would also like to look at unsolved cases of autism those not linked to any known rare genetic variants and those without high polygenic risk scores, which reflect common genetic variants associated with the condition. These unsolved cases account for a very large fraction of kids with autism. Maybe in the dark regions of the genome, or in genes not characterized before, we can find answers especially with long-read sequences of Mom, Dad and unaffected siblings to shed light on how these unsolved cases are genetically distinct or similar to their family members.

S: What about methylated DNA DNA with chemical tags called methyl groups on top. There is evidence that these epigenetic tags, which influence gene activity, play a role in autism.

EE: With new long-read sequencing techniques such as nanopore sequencing, we can distinguish methylated sequences without having to amplify or convert the DNA beforehand, as was necessary with prior techniques. There might be differences in epigenetic modifications of DNA between people with and without autism that we missed before, which could help address some of the unsolved cases of autism.

S: How feasible is it for researchers to conduct long-read sequencing, or for families to access it?

EE: The major limitation is the cost. Sequencing and assembling a genome well with long reads costs about $10,000, compared with about $1,000 with short reads. Most insurance companies are not going to pay for long-read sequencing. Theres also the issue of throughput. Since it started in 2016, the SPARK project has aimed to look at 50,000 families using exome sequences, which capture only the protein-coding regions of the genome. In that same time, we could look at just 50 families with long-read whole-genome sequencing. [SPARK is funded by the Simons Foundation,Spectrumsparent organization.]

But costs always come down with time. I think that long reads will replace short reads in 10 years. I think every family deserves to have their genomes fully sequenced and characterized, to help them make decisions such as what the best care for their children should be. We just have to get the technology to a cost-effective point.

S: The newly sequenced parts of the genome often contain highly repetitive DNA. Autism has been linked to the presence of such repetitive regions. What might these new regions tell us about autism?

EE: The short answer is we dont know yet. But there is evidence that those regions are very relevant to autism. Two common genetic causes of autism include duplications on chromosome 15q, which account for about 1.5 percent of autism cases, and deletions on 16p11.2, which account for just under 1 percent of autism cases. We know that repetitive regions are hotspots for chromosomal damage that can lead to deletions and duplications, but they werent precisely mapped. Now we can precisely map these regions of genomic instability and gain insights on how breaks occur there and potentially lead to autism.

S: Does anything else come to mind with this new work?

EE: One thing thats still a puzzle is that the same genetic variation strongly linked with autism can have very different outcomes in one kid versus another. Some children may be mildly affected, whereas others may be severely affected. I dont think the odyssey of this work ends with finding the primary genetic causes of autism. We need to understand the background in which these variations lie the way they interact with other genetic variation to understand their true outcome.

Another thing I have reflected on more recently is how most of the innovations we see with this new project were driven by scientists a full generation younger than me. I think that bodes well for the future, to have so many young people interested in solving these difficult problems. The future of human genetics research is in good hands.

Cite this article: https://doi.org/10.53053/GPXL5356

Visit link:
Autism and the complete human genome: Q&A with Evan Eichler | Spectrum - Spectrum