Monthly Archives: February 2022

A new position paper from the European Society of Human Genetics has described the selection of embryos based on polygenic risk scores as unethical practice, insisting that patients must be properly informed on the limitations of PRS and its reliability for predicting genetically complex diseases. ESHRE shares these concerns.

In a statement, ESHRE has expressed its support for the ESHG position paper, agreeing that at present there are serious scientific and ethical concerns about PRS in embryo testing and that introduction in the clinic is highly undesirable.(3) ESHRE lists four reasons for its concerns over the reliability of PRS, while adding that, even in cases where some analytic validity of a correlation can be demonstrated, the clinical utility of PRS remains at this time low to non-existent and cannot be supported in clinical practice.

PRSs already dubbed PGT-P by some clinics - are estimates of an individuals susceptibility to a specific trait obtained by aggregating the effects of multiple (and potentially millions) of genetic variants associated with that specific trait into a single figure. Yet the ESHG report notes that such traits are highly complex, determined by a combination of genes and environmental factors, and beyond the calculation of any single score derived only from genome-wide association studies. When PRS assessments are provided as direct-to-consumer tests, warns the report, their evaluation of a patients risk may be dangerously incomplete and can lead to grave misunderstandings.

The report emphasises the distinction between embryo assessment based on PRS and that based on single gene or chromosome testing. In the latter cases PGT-M, PGT-SR - the ability of the test to predict the development of a target disease in any offspring is high. PRSs, however, are only able to capture parts of the relevant genetic component.

The ESHG report concludes that at present carrying out a PRS test for embryo selection would be premature at best, adding the critical caveat that resources would be better applied in understanding the complex interplay between PRSs for a range of conditions and the environment than in offering an inadequately evaluated test to our future children.

The ESHG report echoes many of the concerns expressed in a New England Journal of Medicine special report in July last year, which not only listed the many factors which lower the predictive value of PRS but identified too some of the clinics (all in the USA) actually offering embryo selection based on PRS.(4) One of the clinics mentioned appeared to be providing patients with a PRS for education, household income, cognitive ability, and subjective well-being as part of a research protocol.

The NEJM report listed a six-point set of recommendations for communication with patients on the expected gains which might arise from PRS embryo testing, all focused on the provision of risk estimates specific to phenotype and ancestry. The report also advised against exaggerating the benefits of screening additional embryos.

And as did the ESHG paper, the NEJM report concludes that unless and until PRS for embryo screening is more robustly regulated, companies and clinicians who insist on offering this unproved, societally risky service should channel any access to [PRS] through research protocols, at no cost to patient participants.

However, PRS remains a highly controversial subject and any lack of consensus was no better highlighted than in a keenly followed session at last years online annual meeting of ESHRE in which a moral philosopher making a case for PRS also conceded that any clinical applicability of PRS was still five to ten years away.(5) Nevertheless, as in the ESHRE and ESHG statements, the prevailing arguments against PRS were based on reliability and accuracy, with many objections from the virtual floor questioning just how accurate the prediction of an embryos putative health might be from a PRS calculated from a battery of SNPs and genome-wide association studies.

1. See https://www.eshg.org/index.php?id=910&tx_news_pi1%5Bnews%5D=35&tx_news_pi1%5Bcontroller%5D=News&tx_news_pi1%5Baction%5D=detail&cHash=1c5c9e18d572aec81caa0ab5f3fb4bff

2. Forzano F, Antonova O, Clarke A, et al. The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice. Eur J Hum Genet 2021; doi.org/10.1038/s41431-021-01000-x

3. See /Europe/Position-statements/PRS

4. Turley P, Meyer MN, Wang N, et al. Problems with using polygenic scores to select embryos. N Engl J Med 2021; 385: 78-86. doi:10.1056/NEJMsr2105065

5. See https://www.focusonreproduction.eu/article/ESHRE-News-ESHRE-2021-polygenic-risk

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Embryo selection based on polygenic risk score denounced as 'unproven, unethical' practice - ESHRE

The University of Zurich is seeking applications for anAssistant Professorship in Legal Questions Pertaining to Reproduction and Human Genetics (URPP Human Reproduction Reloaded)

to take effect from the beginning of the 2022 Fall Semester (1 August 2022), or by arrangement.

The University Research Priority Program (URPP) Human Reproduction Reloaded aims to examine the legal, philosophical, medical, and sociological dimensions of human reproduction and places a particular focus on reproductive medicine, including human genetics. The program also monitors the possible uses of CRISPR genetic scissors in a high-risk project. An express aim of the URPP is to promote young researchers, which is why two assistant professorships are planned for the duration of the project: one with a medical focus in the CRISPR project, the other in sub-project 1 at the Faculty of Law. Sub-project 1 is dedicated to the normativity of human reproduction and researches the way biological realities and historical, philosophical, and legal concepts interact with one another. The project also examines their gender-theoretical implications.

We are looking for someone who, building on a qualification in law, has interdisciplinary skills, specifically in the field of reproductive medicine and genetics, possibly as well in fields such as history, ethics, gender studies or philosophy. The qualification should be reflected in an outstanding dissertation and additional publications. The dissertation should address an area of law applicable to issues of reproductive medicine and human genetics, such as medical, family, property, or private law.

In addition to the URPP and the Faculty of Law, the assistant professorship will also be affiliated with the MERH Centre, which addresses fundamental issues of medical law. Therefore, the ideal focus would be on medical law, particularly pertaining to reproductive medicine and human genetics. A qualification in private law would be considered, but also one in public, commercial, and possibly criminal law. The reason for this is that the dimensions of human reproduction and genetics researched in the URPP raise legal questions of different denominations, which are not fully reflected in the existing legal curriculum. This particularly applies to the monitoring of the high-risk CRISPR project.

The assistant professorship in sub-project 1 of the URPP is designed as a qualification position and includes tasks in research, teaching and the administration of the URPP. The aim of the assistant professorship is to provide the appointed candidate with further qualifications to be able to obtain a professorship and thus generally speaking carry out a habilitation at the Faculty of Law. The application must therefore be accompanied by a project proposal which demonstrates that the candidate has an express interest and ability to research in depth the legal issues addressed by the URPP and develop new approaches to solving urgent legal issues in human reproduction and human genetics. The possibility of a permanent position will be examined as part of the appointment procedure with the involvement of the specialist groups concerned.

Candidates with a non-Swiss and/or foreign language background must be willing to acquire German language skills. Good knowledge of other languages, particularly English, which is intended to be the second working language of the URPP, is desirable and may replace German language skills for an initial period.

The University of Zurich strives to increase the representation of women in research and teaching, and therefore specifically welcomes applications from these candidates.

Further information relating to this job profile can be found on http://www.ius.uzh.ch/de/faculty/news/jobs.html.

Further InformationAs responsible member of the appointment committee, Professor Ulrike Babusiaux (ulrike.babusiaux@rwi.uzh.ch), is available to answer any questions and provide further information.

Please submit your application documents by 30 March 2022 online via http://www.recruiting.ius.uzh.ch/position/10158080. You may be requested to submit hard copy documents separately at a later point.

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Assistant Professorship in Legal Questions Pertaining to Reproduction and Human Genetics job with UNIVERSITY OF ZURICH | 279873 - Times Higher...

Black patients diagnosed with dilated cardiomyopathy (DCM) of unknown cause are more likely to have family members at risk of developing the heart muscle disease than families of white patients, according to results of a multisite study led by researchers atThe Ohio State University Wexner Medical CenterandCollege of Medicine.

Researchers studied the prevalence and risk of familial DCM in Black and white patients and their family members, noting most studies have included only whites even though Blacks with DCM have a higher risk of heart failure-related hospitalization and death. Researchers believe most of idiopathic, or unknown cause, DCM has a genetic basis.

Using mathematical modeling techniques, researchers estimated that 30% of patients with DCM seen at a typical advanced heart failure program in the U.S. had at least one first-degree family member (child, sibling or parent) with DCM. When broken down by self-identified race, an estimated 39% of Black patients and 28% of white patients had at least one first-degree family member with DCM. The study was publishedFeb.1 in the Journal of the American Medical Association.

Integrating Black families into this DCM study was critically important because most information has only been available for white patients. Our study shows that families of Black patients are at greater risk for DCM than those of white patients. We dont yet understand all of the reasons for this. It could be from differences in genetics, comorbidities or social determinants of health. This analysis, which only included clinical information, was unable to clarify that, but the genetic analysis being completed now will soon be available, saidDr. Ray Hershberger, a cardiologist and division director of human genetics at the Ohio State Wexner Medical Center and a researcher at theDorothy M. Davis Heart and Lung Research Institute.

Hershberger is the senior author of the study and heads up theDCM Consortium, which is composed of 25 leading academic U.S. heart failure/heart transplant programs that contributed to the study.

The five-year study enrolled 1,220 patients with DCM, of which 44% were women, 43% were Black and 8% were Hispanic, along with 1,693 of their first-degree relatives. DCM is a condition in which the heart muscle weakens and the left ventricle enlarges. Its the most common cause of patients needing a heart transplant and responsible for about half of heart failure cases that result from a weakened left ventricle. Prior information has suggested that 1 in 250 Americans have DCM.

DCM can occur in family members at almost any age but the typical onset is mid 40s. The severity of the condition can vary within families, with some family members exhibiting minor symptoms while others may die of heart failure or an arrhythmia causing sudden cardiac death. Symptoms include shortness of breath with exertion, fatigue, edema of the legs and feet, an irregular heartbeat or lethal arrhythmias.

The study estimated that about 1 in 5 first-degree family members of patients with idiopathic DCM were at risk of getting the condition during their lifetime.

DCM can be silent for months to years before symptoms begin. Eventually heart failure may develop, which is late-phase disease. Since medical treatment has been shown to mitigate asymptomatic DCM, guidelines have recommended that, with a diagnosis of DCM, the patients first-degree family members undergo clinical screening including an echocardiogram so that early asymptomatic DCM can be found and treatment initiated before progression to late-phase disease, Hershberger said. For the first time, this study gives us hard numbers on how to counsel family members on their risk of developing DCM, and especially so for family members of Black patients with DCM.

In 2014, Greg Ruf, 57, of Dublin was diagnosed with DCM, and he has been raising awareness since then about the disease that led to him having a heart transplant last July at Ohio StatesRichard M. Ross Heart Hospital. Nine family members have been identified with gene mutations known to cause DCM.

Theres a million plus people in the United States that are dealing with this and unfortunately many dont know. It's really important to prevent death in your family or advanced disease by getting tested and dealing with this thing head-on, Ruf said.

The study is the first of a series based on findings by the DCM Consortium. The study also examined the genetics of patients with DCM, which will be published later in 2022.

The Dilated Cardiomyopathy Consortium was funded by a $12.4 million grant from the National Heart, Lung, and Blood Institute of the National Institutes of Health and a supplemental grant from the National Human Genome Research Institute. For this study, computational infrastructure was provided by The Ohio State University Division of Human Genetics Data Management Platform and theOhio Supercomputer Center.

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Study finds higher risk in families of Black patients with inherited heart muscle disease - The Ohio State University News

After decades of exhaustive study, scientists have concluded that human tetrachromacy is real. Some people have a truly superhuman range of color vision. In fact, there are two distinct types of tetrachromacy. In some cases, its genetic. But in some rare cases, it can also be an acquired trait. While its difficult to test, enough tetrachromats have stepped forward that scientists now have visual and genetic tests for the condition.

One percent of the worlds population is thought to be tetrachromatic. These lucky folks may be able to see a thousand times as many colors as the rest of us trichromats. In order to test that idea, researcher Gabriele Johnson devised an experiment. She used precise amounts of pigment to create shades of paint that could only be distinguished by a machine or a tetrachromat. In 2010, Johnson found a subject who was able to tell each subtle shade apart, every time just as fast as trichromats could identify the colors they saw. When you ask them to discriminate between the two mixtures, a tetrachromat can do it very quickly, she said. They dont hesitate.

Concetta Antico is a painter and art teacher with genetic tetrachromacy. Growing up in Sydney, she says, she was always a little bit out of the box, alone in her own visual dreamland. She always preferred the kaleidoscope of colors she saw when she looked at the natural world. But nobody else seemed to see it quite like she did. So she decided to paint what she saw. Im sure people just think Im high on something all the time, she said, but Im really just high on life and the beauty thats around us.

Antico leaned into her impressionist euphoria. She opened a teaching studio in California. Then in 2012, genetic tests revealed an explanation for Anticos preferences and the way she saw her world. Shes a genetic tetrachromat.

Portrait of the artist as a rainbow? Image: C. Antico

Genetic tetrachromacy means that a person has two different genes for their photopigments, both active at the same time. Up to 12% of people with two X chromosomes may have the condition. With a copy of OPN1MW on one X chromosome and a copy of OPNMW2 on the other, its possible for a person to have four separate and functional cones in their retina, instead of the usual three. But the cones response ranges overlap, so the same wavelength of visible light can saturate more than one receptor. This may explain the visual differences characteristic of this type of tetrachromacy. People with the condition can make finer distinctions between shades, because they have more combinations of color receptors to do it with.

Having the right hardware is essential for tetrachromacy, but its not sufficient. A person has to recognize the perceptual effects, and then learn to pay attention to them. Dr. Kimberly Jameson, who has studied Antico, said of the artist that In Concettas case one thing we believe is that because shes been painting sort of continuously since the age of seven years old, she has really enlisted this extra potential and used it. This is how genetics works: it gives you the potential to do things and if the environment demands that you do that thing, then the genes kick in.

Rainbows are a delight to the eye as they gleam from raindrops or a crystal prism. If Anticos art is any guide, a person with genetic tetrachromacy sees their entire world illuminated with that deep, luminous palette. Many of her works strive to capture a certain slant of light. Some, like this painting of the waters edge at La Jolla, also show her unique perception of color.

In this rendering of the morning light over the coastline at La Jolla, the highly saturated colors bring out the quality of the light. Image: C. Antico

While the bright morning light throws harsh shadows with hard edges, the muted colors in the background create depth of field. Combined, they show how mist over the water catches and holds the light. In the foaming water, greens and teals and Caribbean turquoise swirl around reflections of the amber cliffside. The nearest cliff casts a deep shadow over the water. In the shadow, Antico sees an iridescent purple shimmer, like an abalone shell.

Where the painting of La Jolla shows sunlight on a clear, hot day, the sky in this painting of Mission Hills looks like light breaking through after a thunderstorm. In the flowers and foliage, richly saturated colors leap out of the painting as though they cant contain themselves. After a good rain, sometimes the plants are just very green, and the flowers very bright.

This painting may demonstrate the ways a tetrachromat sees the world: vivid, highly saturated, almost enough to make you blink. Image: C. Antico

Overlapping activation of cones could explain the colors that seem to pop up in unexpected places. Its not just an affectation and its not artistic licence, Antico says. Im actually painting exactly what I see. If its a pink flower and then all of a sudden you see a bit of lilac or blue, I actually saw that.

Where some people have an unusual variety of cones that respond to the visual spectrum, theres another kind of tetrachromacy. Some people with tetrachromatic vision can see into the UV band, perceiving a bright purple glow where others perceive nothing at all. This is the kind of tetrachromacy that can be an acquired trait.

Normally, the lens of the human eye blocks most light below 400 nm, which is where the UV band starts. Cones that respond to the deepest violets can actually be sensitive to near UV. However, because they dont receive that light, they never have a chance to fire in response to it. This is why UV lasers are so dangerous. Even though too much UV can damage the eye, we dont see it, so we dont know to look away.

Most people dont perceive ultraviolet light at all. But all of that can change if a person doesnt have a lens (a condition called aphakia). Aphakia is mostly caused by surgical removal of the lens in order to treat cataracts. Without a lens, some UV can reach the retina and light up those deep-violet cones, which is remarkable all by itself. But aphakia can be treated by implanting an intra-ocular lens (IOL). In rare cases, recipients of a crystalline IOL called the Crystalens report a newfound ability to see into the near UV. The Crystalens permits some near UV, above 340nm.

Engineer and former Air Force officer Alek Komar has a website detailing how his color vision changed following major cataract surgery. In Komars case, however, he didnt just get his normal color vision back with the Crystalens implant. The lens allows some near UV light to hit Komars short-wavelength cones. As a result, he can now see wavelengths of light that are invisible to most humans. Komar did A/B testing with a black light and a UV flashlight. It seemed that he could see the UV as a purple glow.

An example of what its like to be able to see UV light. Because UV light stimulates the violet cones, it scans as purple light where none existed before. Image: Alek Komar.

Still skeptical, Komar secured the help of another engineer, this one from HP. To test Komars vision, they used a Monochromator, a device capable of projecting light in 10nm wavelength increments. The results confirmed his perception. Komar can see near-UV light, down to 340-350nm.

Subsequent reports indicate that hes not the only Crystalens patient to see ultraviolet wavelengths following the procedure. On his site he details anecdotal reports from people with a Crystalens IOL in only one eye, who describe a startling difference in what their left and right eyes see.

While its uncommon in humans, UV tetrachromacy is widespread elsewhere in the animal kingdom. It goes way beyond mantis shrimp. Numerous species of bird have a fourth cone that allows them to see well into the ultraviolet. As with the cryptochrome that enables them to see the Earths magnetic field, UV light may help birds navigate.

Bees also use ultraviolet cues to navigate. Under UV light, some flowers look very different from what we see in the visible spectrum. Bees use these spectral differences to choose flowers and tell them apart. For instance, check out this picture of a flower from Alek Komars backyard:

Image: Alek Komar

Taken in the visible spectrum, this simple snap shows a sunny yellow-and-orange flower as most humans see it. But the same flower looks very different when its photographed in the UV band.

Image: Dr. Klaus Schmitt, via Alek Komar.

Komar plans to continue his UV experimentation. Hes working on a test of spatial resolution, which would require an eye chart only visible in UV. And for her part, Antico is teaching less and painting more these days.My gift allows me to see the true colors of the beauty that surrounds me, my life long passion and dedication to art allows me to paint it, she says. Painting provides a medium through which I can show those colors to others too.

Personally, Im holding out for a gene therapy that lets me hot-swap my vision with a mantis shrimps. But what kind of eye chart could we possibly use to test for that?

Feature image by Thorsten Hartmann, CC BY 2.0. Image was cropped from original format.

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Human Tetrachromacy is Real. Here's What We Know - ExtremeTech

THOUSAND OAKS, Calif., Feb. 3, 2022 /PRNewswire/ -- Amgen (NASDAQ:AMGN) will host a virtual Business Review Meeting at 8:00 a.m. ET on Tuesday, Feb. 8, 2022. Robert A. Bradway, chairman and chief executive officer, along with other members of Amgen's management team, will present a comprehensive review of the company's strategy, operations, pipeline, research capabilities and growth outlook. The Business Review Meeting 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 webcasts and presentations regarding developments in Amgen's business given at certain investor and medical conferences, can be accessed on Amgen's website, http://www.amgen.com,under the Investors tab.

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)

Michael Strapazon, 805-313-5553 (media)

Arvind Sood, 805-447-1060 (investors)

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AMGEN TO HOST VIRTUAL BUSINESS REVIEW MEETING | | news-journal.com - Longview News-Journal