Category Archives: Human Genetics

In these fractious times, when we are confronting the reality of systemic racism, how can we have an informed discussion about genetics and race?

One way is to calmly state the increasing evidence of meaningful genetic differences between human populations and then engage in honest and robust debate about the social and political implications, if any, of such inter-group divergence.

Back in the real world, meanwhile where open discussion of race and biology is largely taboo (a state of affairs recently exacerbated by DNA pioneer James Watson) a better idea might be to quickly change the subject. So what about the weather, eh?

But battening down the hatches and sitting out the storm isnt really an option. For a start, it would mean blithely ignoring the deluge of data from the recent revolution in molecular biology about our species evolution and of the genetic divergence of separate human populations over time. More importantly, it would also miss the opportunity to genuinely level the playing field for those very peoples most marginalised by an undeniable history of prejudice and neglect.

Note, though, the numerous alternatives for race already employed above: populations, groups, peoples (to which ancestry, descent and the like could also be added). Far from simply being politically correct euphemisms for a tainted term, it is important to distinguish between the word race as it is socially used say, the Black/African American, Native American, White, etc. racial categories used in the US census from the biological sense, used to describe distinct populations within a species.

Because of the historical misuse of the term race, this is an important distinction to make. In 19th century Britain, for example, two groups who would now be simply lumped together as White were regarded as separate biological races namely, and complete with the picturesque descriptors of the time, the careless, squalid, unaspiring Irish and the frugal, foreseeing, self-respecting Scots. (Full disclosure: my own genetic ancestry is of the careless, squalid and uninspiring variety.) A more modern perspective, however, does not deny the existence of genetically distinct indigenous British populations such groupings do indeed exist rather, it avoids describing them in meaningless racial terms. Similarly, the idea of an overarching Black race utterly fails to capture the genetic diversity of African (or African-descended) peoples, irrespective of how we are now able to distinguish genetically related groups within the wider human population of Africa.

Nor is this simply overly-sensitive quibbling over the meaning of a word. Historically, race was often used synonymously with varieties, breeds or sub-species (in the Descent of Man, for instance, Darwin considers at great length what was then still an open question: Arguments in favour of, and opposed to, ranking the so-called races of man as distinct species). But whether we like it or not, words have power, and once-acceptable descriptors of human inter-group variation now carry obvious egregious connotations (such as the slur half-breed).

Indeed, the limitations of language have long been a bane of everyday discussion of human evolution, with phrases and concepts survival of the fittest, say, or struggle for existence inevitably being interpreted in terms of intrinsic worth. Descriptions of sub-species of flora and fauna, for instance, would ruffle few feathers; similar talk of sub-populations of human beings, however, inevitably evokes hierarchical notions of superiority and inferiority. (As a light-heartened analogy, think of the hierarchical distinction between language and dialect then tell the Germans that their language is a dialect of Dutch.)

In sum, then, anyone discussing genetics and race must be conscious of the connotations and impact of words. And this is especially true when engaging in dialogue with those with a standard social science conception of race, one in which human evolved biology is seen as irrelevant to social issues a paradigm, moreover, in which the very idea of human biological difference is treated with the utmost suspicion. Given this latter mindset and the human tendency towards righteous indignation it is hardly surprising that many liberal-minded people react badly when confronted with arguments about human difference that they perceive (rightly or wrongly) as morally offensive. If worthwhile or meaningful discussion of genetics and race is to proceed, therefore, it is beholden on geneticists and their ilk to take this into account not through political timidity but through simple courtesy and common-sense.

Of course, as pointed out above, such is the toxic nature of this topic that open discussion is often avoided, especially by those cowed by the likely reaction of their peers. In this respect, political scientist James Flynn discoverer of the eponymous Flynn effect of rising IQ over time points to the counterproductive nature of intellectual censorship: [T]hose who boycott debate forfeit a chance to persuade. They have put their money on indoctrination and intimidation. A good bet in the short run but over the long course that horse never wins.

The sort of censorious indignation highlighted by Flynn also has another detrimental effect: it opens a space for nationalistic populists and race supremacists to claim they are simply telling it as it is or bravely saying what others are too scared to admit. The losers here, of course, are the very people that the taboos were designed to protect those marginalized minorities likely to face greater prejudice from emboldened bigots.

Moreover, Flynns own work provides a further explicit example of how such taboos can have counterproductive consequences; if Flynn had been unable to research the causes of reported racial differences in IQ he would never have discovered the Flynn effect, the best evidence we have of environmental influences on intelligence (and of how improvements in impoverished environments can lead to dramatic changes in IQ scores over time).

This points not only to the benefits of openly addressing sensitive subjects, but also to a possible way to assuage some of the suspicion that surrounds genetic research into inter-group difference that even if such differences are shown to exist, this does not dictate any particular social or political response. Facts do not determine values.

At the same time, however, facts can certainly inform social policy. Take, for example, the overwhelming evidence of strong genetic influences on academic achievement. Contrary to what many might pessimistically assume, this genetic evidence does not mean that nothing can be done for those currently failing in the education system. As the Flynn effect shows, environmental change does make a difference, despite the high heritability of IQ.

Indeed, the strong genetic determinants of educational attainment are much less straightforward than they appear. For example, some studies that indicate a causal link between genes and learning hinge on the observation that older mothers have offspring who are more likely to succeed in school. As older mothers also have fewer children (with whom they can devote more time and resources), the relevant genetic influence here pertains to fertility rather than academic smarts. Given this, and given a political desire to raise academic attainment amongst specific groups, ameliorative social policy could focus on womens reproductive health and opportunities in marginalised communities.

Be this as it may. The point is that genetic facts including evidence of genetic differences between racial populations carry no necessarily social or political implications. Nevertheless, these same genetic facts may help highlight obstacles to achieving desired social outcomes, and could provide information that assists in overcoming them. In this respect, just as greater awareness of social and environmental barriers can assist in designing policies to reduce inequalities, so too could greater recognition of possible genetic hurdles to improved life outcomes.

In the past in the era of Social Darwinism and eugenics hereditarian political beliefs equated biology with destiny. Unfortunately, much of the present-day antipathy to human genetic research appears premised on a similar erroneous belief: that if human behavior is under the influence of biology/genes then certain social outcomes, such as disparities in wealth or status, are inevitable. Hence the desire to denigrate genetic research that touches on the raw nerve of race for, as many well-intentioned egalitarians may mistakenly believe, if meaningful differences between different peoples really do exist, then the goal of greater equality could prove unattainable.

The biological study of human behavior is notoriously fraught hardly surprising, given that fallible humans are both the subject and the object of scrutiny. Furthermore, given the egregious history of political ideas based on supposed facts of human biology, the results of human behavioral research are often held to a higher standard of proof and most especially with research relating to politically sensitive topics, such as race, gender or sexuality.

Whether always warranted or not, such critical inspection comes with the territory; indeed, one higher standard that human geneticists can impose upon themselves is to understand the motivation of the opposition, however wrong-headed this might appear. Such awareness would not mean avoiding discussion of troublesome topics but it might avoid discussing them in ways more likely to inflame than inform.

A version of this article was originally published by the Genetic Literacy Project on Feb 13, 2019.

Patrick Whittle has a PhD in philosophy and is a freelance writer with a particular interest in the social and political implications of modern biological science. Follow him on his website patrickmichaelwhittle.com or on Twitter @WhittlePM

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Genetics and race: An awkward conversation during volatile times - Genetic Literacy Project

Ive admired the cockroachs ability to regrow lost legs since learning about them while working on my PhD in developmental genetics ages ago. Cut off a roachs appendage, and soon signals from the exposed cells stimulate division of neighboring cells at the injury site. And out grows a new leg.

The signaling pathways of both embryonic development and regeneration are common to many animal species, and are therefore ancient. The genes in control have intriguing names: Grainy Head, Notch, Wingless,Sonic Hedgehog,and evenHippo.

I remember reading about elegant experiments that moved the cells at the interface of an amputation in a model organism, such as the cockroach poster-child for regeneration. When a researcher rotated the cells at a cut site, a turned-around limb unfurled.

Salamanders can regenerate limbs too. Back in graduate school in Thom Kaufmans lab at Indiana University, we had two pet Mexican axolotls from the developmental biology group upstairs. Sally and Gerry Mander lived in a large rectangular tank above the vials of fruit flies, happily swimming, as amphibians do. And if a bit of a leg broke off from crashing into the side, the salamander could regrow it.

Of course humans cant regenerate missing limbs, or even toes. Our closest relatives that can are lizards (reptiles, not amphibians).

In a new report in Nature Communications, researchers from the Keck School of Medicine of USC and the University of Pittsburgh describe teaming the gene-editing tool CRISPR with neural stem cells to enable mourning geckos to regrow functional tails. Without the intervention, the lizards regrow tails that are bands of soft cartilage, good for little more than balance. A working tail is built of a distinctive top and bottom that spatially distributes nervous and muscle tissue in a pattern that enables the animal to move. The research has implications for regenerative medicine.

Growing a tail is complicated, and embryos are the experts.

Undulating levels of biochemical signals bathe the dividing cells of early embryos of any species. This highly regulated brew turns specific genes on and off in ways that direct the emergence of tissues that then interact and fold into organs.

In an animal species that has an amniote egg (surrounded by air, fluid, and membranes), the embryos tail develops from a bump called a tail bud. The cells then sort themselves into a top (dorsal) layer of roof plates and a bottom (ventral) layer of floor plates.

Thats what happens in an embryo as the choreography of development unfolds. But replacing a body part after injury to an adult isnt the same as the origin of the corresponding part in an embryo. And so an injured lizard can regrow something from an amputated tail, but its not the real deal. Instead, its a tube of cartilage that doesnt do much. (Imagine replacing a dogs wagging tail with a static cardboard tube.) The adult lizards replacement tail lacks the nuances that distinguish top from bottom, what developmental biologists call dorsoventral patterning. (Dorso refers to the back and ventral to the belly portion of a structure.)

The wounded lizard makes a cartilage tail because it inappropriately activates Sonic Hedgehog signaling. In the embryo, this signaling normally fades and that triggers harder bone to replace the bendy tail cartilage. At the same time, the stem cells that occupy the neural tube that forms along the embryos back divide and specialize, giving rise to the nerve cells of the spinal cord and dorsal root ganglia. A few stem cells remain in the adult, clinging to the interior of the spinal cord.

What would happen, the researchers wondered, if they blocked Sonic Hedgehog signaling in adult geckos with shortened tails? Would the stem cells step in to regenerate appendages that could enable movement, and not just offer the balance that a cartilage tail provides?

In the experiments, the researchers isolated neural stem cells from lizard embryos, used CRISPR/Cas9 gene editing to knock out the ability of the cells to respond to Sonic Hedgehog signaling. They then injected the disarmed stem cells into the spinal cords of adults that had their tails cut off.

The introduced cells indeed glommed onto the forming cartilage tail tubes and instead oversaw establishment of the dorsal-ventral, aka top-bottom, distinction that enabled the animals to regenerate complete and functioning tails not the placeholders. The new and improved lizard tails have bone and nerve tissue on the upper or dorsal side, and cartilage on the lower or ventral side.

Said co-author Thomas Lozito, an assistant professor of orthopedic surgery and stem cell biology and regenerative medicine at the Keck School of Medicine,

This is one of the only cases where the regeneration of an appendage has been significantly improved through stem cell-based therapy in any reptile, bird or mammal, and it informs efforts to improve wound healing in humans. Perfecting the imperfect regenerated lizard tail provides us with a blueprint for improving healing in wounds that dont naturally regenerate, such as severed human limbs and spinal cords. In this way, we hope our lizard research will lead to medical breakthroughs for treating hard-to-heal injuries.

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

A version of this article was originally posted atPLOSand has been reposted here with permission. PLOS can be found on Twitter@PLOS

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Regrowing limbs using CRISPR? It's been done with lizards, with hopes that human limb regeneration will be possible in the future - Genetic Literacy...

Do you go once a day? Maybe you go twice, or even three times? Or perhaps you only go a few times a week? Yes, were talking about pooing. In our new study, weve found how often you go is, at least to some degree, a function of your genetic make-up.

You might be wondering why this is something we chose to study. While many people rarely give a second thought to going when the urge presents itself, for others, common gastrointestinal conditions like irritable bowel syndrome (IBS) cause problems.

IBS affects up to 10 per cent of people globally and is characterised by abdominal pain and bloating, irregular bowel habits, constipation and diarrhoea. Although not life threatening, it can severely affect a persons quality of life.

We dont know exactly what causes IBS, which means therapeutic options are limited, mostly directed at treating the symptoms rather than targeting specific causes. We also dont have a way to tell who is at increased risk of IBS.

In this climate, our general research aims to identify genetic risk factors for IBS by looking at genomic information and health-related data across large groups of people. The idea is that our findings may, in time, pave the way towards better treatment options.

In our latest study, published in the journal Cell Genomics, we looked at how often people poo or their stool frequency and how this correlates with their genes. Our findings provide clues as to the genetic risk factors associated with IBS.

Investigating the genetic links for complex diseases such as IBS is challenging for a variety of reasons. One way to simplify things is to deconstruct the disease into individual biological components or traits related to the physiological processes disturbed during illness.

These are called intermediate phenotypes or endophenotypes. If you were looking at heart disease, blood pressure would be an example of an intermediate phenotype.

We took this approach in our research, and opted to study intestinal motility, or gut motility, as a hallmark intermediate phenotype of IBS. By way of background, many people with IBS experience intestinal dysmotility, which is when the gut doesnt work properly at moving its contents (such as food and drink) through the digestive system. This may result in symptoms including constipation or diarrhoea.

While direct measurement of gut motility in humans requires clinical procedures that are not suitable for large-scale studies, stool frequency has been shown to correlate with gut motility and may therefore be used as its proxy in big genetic studies.

On this basis, we analysed data from 167,875 people (taken from the UK Biobank and four smaller groups in Europe and the US) who provided information on how often they move their bowels.

Alongside this data, we analysed millions of DNA markers the building blocks of our DNA which make each of us genetically unique. We demonstrated for the first time that stool frequency is, at least in part, a heritable characteristic.

We identified 14 regions of the human genome where specific DNA markers occur more often in people reporting higher or lower stool frequency compared to the rest of the population. This makes sense, because within these regions are multiple genes whose products (including neurotransmitters, hormones and receptors) are involved in the communication between the gut and the brain.

While some of these molecules were already known, and have even been the targets of drugs to influence gut motility, most represent potential new candidates for the treatment of diarrhoea, constipation and IBS.

A common genetic denominator

We also found evidence of similar genetic architecture between stool frequency and IBS. In other words, the genetic factors important for controlling stool frequency appear to also be important when it comes to the risk of developing IBS.

Finally, we wanted to see whether what we learned in our study could be used to try to identify people at increased risk of IBS. We did this by calculating polygenic scores, which are numerical values summarising genetic information, in this case relating to the probability of having altered stool frequency.

This was more informative for IBS primarily characterised by diarrhoea. Using data from the UK Biobank, we showed that people with higher polygenic scores (therefore more likely to have higher stool frequency) are up to five times more likely to suffer from IBS with diarrhoea than the rest of the population.

Some limitations

Its important to point out that our study doesnt account for lifestyle and dietary factors, which certainly have an effect on bowel habits.

And while we identified 14 regions containing DNA markers important for stool frequency, within most of these regions, individual genes and their specific biological functions still need to be characterised.

Further, stool frequency polygenic scores and their value in predicting IBS need to be tested and validated in independent studies and among people from different ethnic backgrounds (only individuals of European ancestry were included in this research).

Overall, however, these are important initial genetic findings, which could help us identify new treatment options. They also open up the possibility of using genetic information to identify IBS patients, as well as those falling into specific subtypes (such as IBS characterised by diarrhoea). This in turn could help to stratify patients into appropriate treatment groups.

Mauro DAmato is Visiting Professor, Unit of Clinical Epidemiology, Department of Medicine, Solna, Karolinska Institutet. Ferdinando Bonfiglio is Research Associate, Unit of Clinical Epidemiology, Department of Medicine, Solna, Karolinska Institutet.

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How often do you poo? New research shows bowel habits are written in our DNA - The Indian Express

CU Cancer Center members James DeGregori, Ph.D., and Edward J. Evans, Ph.D., analyzed data to highlight the surprising abundance of cells with cancer-associated mutations in cancer-free individuals.

It's worth noting, in light of recently published research, that a majority of people won't be diagnosed with cancer in their lifetimes. According to the National Cancer Institute, about 40% of people will, which means 60% won't.

These percentages are worth remembering because research conducted by University of Colorado Cancer Center Deputy Director James DeGregori, Ph.D., a professor of biochemistry and molecular genetics, and Edward J. Evans, Ph.D., a postdoctoral fellow in the Department of Biochemistry and Molecular Genetics, found that most cancer-free individuals over age 60 carry at least 100 billion cells harboring at least one oncogenic, or tumor-causing, mutation.

The research, published in Aging and Cancer, involved a meta-analysis of previously published sequencing data on normal tissues, which DeGregori and Evans used to categorize somatic mutations, or mutations that occur after egg fertilization, based on their presence in cancer and showcase the quantity of cells with cancer-associated mutations in cancer-free individuals.

"When you have trillions of cells and they're being maintained for up to a century, they're going to accumulate mutations," DeGregori explains. "The fact that we get mutations is not surprising, just based on known mutation rates. One thing this research points to is that we need to start looking at these mutations, and how or whether they cause cancer, from a different light."

Gathering data to associate mutations with cancer

"To understand the genesis of cancer, we need to look at normal tissue," Evans says. "By the time it's developed into cancer, all the mutations are there and we don't always know which ones are contributing to the actual genesis of cancer.

"We had the idea that a lot of the mutations in people would be oncogenic or associated with cancer, but we just didn't know how many. We figured that it would increase as people get older, but we didn't necessarily know which genes would be prevalent and we didn't know the magnitude of how many cells could actually have these oncogenic mutations."

After reviewing existing literature, Evans collected datasets from researchers who previously had conducted research on mutations in normal tissue. He taught himself to code in the programming language Python so that he could pull appropriate data and create data frames to categorize mutations by the genes, tissue, and age of individuals in which they were occurring, among other factors.

"We have about three trillion nucleated cells in our bodies, so to put it in perspective, 100 billion cells with oncogenic mutations isn't a majority of our total number of cells," Evans says. "But that's a surprisingly high number considering that it only takes one cell to cause cancer. If there are billions of cells with these mutations but no indication of cancer, what does that mean? What does it mean to have these oncogenic mutations in the body?"

Understanding differences between tissue types

One of the interesting facets of the research findings, DeGregori says, has been learning that oncogenic mutations can be extremely prevalent in certain types of tissue, including skin, colon, and esophagus.

"Some tissues can be absolutely dominated by these mutations," DeGregori says. "But if you look at the esophagus, for example, half of it is loaded with NOTCH1 mutations, which rarely contribute to cancer in non-smokers. So, to test for this mutation isn't really useful if most of us have it and it rarely leads to cancer.

"If we're simply looking for oncogenic mutations, we're always going to find them and they may not tell us much about cancer risk. How those oncogenic mutations are interfacing with the tissue environment will tell us so much more about risk."

A further avenue of research, DeGregori says, will be studying why some tissues have such a high occurrence of oncogenic mutations but a comparatively low occurrence of cancer, while other types of tissue have a relatively low level of oncogenic mutations.

"Before we began this research, I had no idea that almost 90% of colon cells become occupied with cancer-causing mutations," DeGregori said. "That the number was so high was quite surprising, but a relatively low percentage of us will get colon cancer. So, it's going to be important to study this difference between tissue types. Why is it that epithelial tissue in the skin, for example, becomes dominated by oncogenic variants, but lung tissue actually keeps a fairly low level?"

Evans says future research could continue studying which oncogenic mutations are most likely to contribute to cancer and help to hone genetic screening tools to test for the most cancer-causing mutations.

"The vast majority of mutations don't do anything, they don't cause any problems, and many aren't even in coding sequences," DeGregori explains. "Every cell in our bodies has dozens and dozens of mutations, if not hundreds or thousands, so we have an opportunity to begin asking whether these patterns of mutations that we see can dictate whether someone is at high risk of cancer."

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Research Demonstrates That Cells With Cancer-Associated Mutations Overtake Human Tissue With Age - Anti Aging News

BOULDER, Colo., Dec. 09, 2021 (GLOBE NEWSWIRE) -- In a new study published in Nature Genetics, scientists at deCODE genetics, a subsidiary of Amgen, used SomaLogics (NASDAQ: SLGC) SomaScan Assay to measure blood proteins in 35,559 Icelanders and mapped them to 27 million genetic sequence variants. Using this vast amount of proteomic data, these researchers hope to demonstrate that combining protein measurements at population scale with genetic data on disease will dramatically impact understanding of human diseases and potential drug targets. This new study was the largest proteomic study published to date with 170 million protein measurements.

Less than 10% of human disease is driven by genetics. Plasma proteomics, the study of blood proteins, can help bridge the gap between genomics and disease discovery. This paper found that linking genes to proteins, and then to diseases can show patterns between the factors that cause a disease and the factors that are a consequence of a disease. This process may give a roadmap of how diseases develop and offer potential drug targets.

In this study, the plasma levels of 4,719 blood proteins were tested for genetic associations with 373 diseases and traits, producing 257,490 of these associations. SomaLogics SomaScan Assay was used to find genetic variant-protein target associations, called protein quantitative trail loci or pQTLs. In the study, 94% of the proteins measured using the SomaScan Assay showed an associated pQTL, resulting in more than 18,000 pQTLs. Ninety-three percent of these pQTLs are considered novel. The study also identified 938 genes encoding as potential protein drug targets for various diseases.

Our SomaScan Assay offers the ability to measure and identify the largest percentage of the human proteome at commercial scale on the market today and it proved to be exquisitely specific in this study, said SomaLogic Chief Executive Officer Roy Smythe, M.D. We hope that this study, and more like it, will help to provide the vital information that can be added to genetic data to create a more comprehensive understanding of human biology, and increasingly power more effective treatments for human disease.

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About SomaLogicSomaLogic (Nasdaq: SLGC) seeks to deliver precise, meaningful, and actionable health-management information that empowers individuals worldwide to continuously optimize their personal health and wellness throughout their lives. This essential information, to be provided through a global network of partners and users, is derived from SomaLogics personalized measurement of important changes in an individuals proteins over time. For more information, visit http://www.somalogic.com and follow @somalogic on Twitter.

Forward Looking Statements Disclaimer This press release contains certain forward-looking statements within the meaning of the federal securities laws with respect to the proposed business combination between SomaLogic and CM Life Sciences II and otherwise, including statements regarding the anticipated benefits of the business combination, the anticipated timing of the business combination, expansion plans, projected future results and market opportunities of SomaLogic. These forward-looking statements generally are identified by the words believe, project, expect, anticipate, estimate, intend, strategy, future, opportunity, plan, may, should, will, would, will be, will continue, will likely result, and similar expressions. Forward-looking statements are predictions, projections and other statements about future events that are based on current expectations and assumptions and, as a result, are subject to risks and uncertainties. Forward looking statements do not guarantee future performance and involve known and unknown risks, uncertainties and other factors. Many factors could cause actual future events to differ materially from the forward-looking statements in this press release, including factors which are beyond SomaLogics or CM Life Sciences IIs control. You should carefully consider the risks and uncertainties described in the Risk Factors section of the CM Life Sciences IIs registration statement on Form S-4 (File No. 333-256127) (the Registration Statement) and the definitive proxy statement/prospectus included therein. These filings identify and address important risks and uncertainties that could cause actual events and results to differ materially from those contained in the forward-looking statements. Forward-looking statements speak only as of the date they are made. Readers are cautioned not to put undue reliance on forward-looking statements, and SomaLogic and CM Life Sciences II assume no obligation and do not intend to update or revise these forward-looking statements, whether as a result of new information, future events, or otherwise. Neither SomaLogic nor CM Life Sciences II gives any assurance that either SomaLogic or CM Life Sciences II or the combined company will achieve its expectations.

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SomaLogics SomaScan Assay used in largest proteomic study to date, bridging the gap between genomics and disease - Yahoo Finance

TREE 2B, RANOMAFANA, is not an address recognised by Madagascars postal service. It is, though, someones home. The someone in question is a mouse lemur called Judah, the 349th participant to be enrolled into a project run by Mark Krasnow, a biochemist at Stanford University, in California.

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Judahs involuntary membership of the project began when he found himself trapped inside a metal box. He had been lured there by a bait of banana put there by Dr Krasnows collaborators, Haja Ravelonjanahary and Mahery Razafindrakoto of the ValBio research centre on the edge of Ranomafana National Park, 260km south of Antananarivo. Judahs captivity was temporary, for he was released back into his home at 2B about six hours later. But in the interim he was subjected to various indignities. He had his testes measured, a blood sample taken and he was made to do exercises to see how strong he was. He also had a tiny transponder inserted under his skin so that he could be identified next time he was caught.

Judah, and his 348 predecessors similarly trapped and released by biologists at ValBio, are among the first recruits to what is, on the face of it, an extraordinarily ambitious undertaking. For Dr Krasnows plan is to add mouse lemurs to the short and rather random list of so-called model organisms. These are species which, for various reasons, biologists know a lot about. And, since knowledge breeds knowledge, they tend to be the ones about which further knowledge accumulates.

Model organisms assist all sorts of biological research, but a lot of it is medical. And here there is a problem. Ideally, medical research would be done on species that resemble Homo sapiens. But working on human beings closest relativesapes and monkeysis increasingly hard to do. First, such large animals are expensive to keep. Second, that expense means they are often unavailable in the numbers needed for statistically significant work. Third, public opinion, at least in the West, is swinging against their use.

Mice, one common alternative to primates, are cheap, abundant and less prone to stir consciences. But they can only take you so far. Though mammals, they are not close relatives of people. Sometimes that lack of relatedness can be finessed by inserting human genes that are relevant to the matter under investigation. But even then, the underlying platform is still a rodent, not a primate. By contrast, a mouse lemur, though it looks and behaves a bit like a mouse, and is not much bigger, is indeed a primate, and so is much more similar to a human being than a rodent is.

Mice, moreover, have short lives, and thus high turnover. But mouse lemurs can live for 14 years in captivity and maybe ten in the wild. That is a nice compromise between a period brief enough to arrive at conclusions that are useful (and will result in career-enhancing research papers), and long enough to be more similar to a human beings life-history. Yet, like mice, mouse lemurs breed prolifically and quickly, with a gestation period of just two months and maturity achieved within six to eight months. And not just in a laboratory. In Madagascar there are millions of themfor, contrary to common perception, not all lemur species are endangered.

What is particularly intriguing for Dr Krasnow and his colleagues, though, is that, in captivity at least, mouse lemurs suffer several illnesses which affect humans too. These include Alzheimers and other neurodegenerative disorders, cardiac arrhythmias, metastatic uterine cancer, strokes and atherosclerosis, the furring of the arteries that can lead to a heart attack.

Model organisms tend to happen by accident. Yeast is used by brewers and bakers, so is an obvious topic for study. Fruit flies were picked by Thomas Morgan, an early geneticist, because they are easy to breed in large numbersand it helped that some of their cells have giant chromosomes which showed up well under the microscopes of the day. And mice were kept as pets by fanciers long before one saw the inside of a laboratory cage.

Dr Krasnows plan to add mouse lemurs to the list was slightly less accidental than these. It began in 2009, when he charged his daughter Maya, then still at school, and two of her friends to come up with a new model organism for studying primates as a summer project in his laboratory. After reviewing the gamut of the primate order, which contains about 500 species, and also looking at a few outliers such as tree shrews, Krasnow junior and her two compadres settled on mouse lemurs. Not only are these abundant and fast-breeding, they also do well in captivity, as a 60-year-old colony of them in France testifies.

Not one to ignore his daughters advice, Dr Krasnow investigated in more detail. In 2011, he organised a workshop of lemur biologists at the Howard Hughes Medical Institute, in Virginia, to kick the idea around. It found favour, and in particular it accelerated the completion of a genome-sequencing project for the animalsa sine qua non for any self-respecting model organism. It also introduced Dr Krasnow to the idea that fieldwork might be an important part of his proposal.

That, in some ways, is the most intriguing idea of the lot. Most biologists working with model organisms make a fetish of control. Mice, in particular, are often bred deliberately to be as genetically similar to one another as possible, within a given line. Dr Krasnow has the opposite plan. Genetic analysis is now so cheap that every animal involved in a project can be sequenced. Made visible in this way, diversity is as much an opportunity as a problem, for that information can be correlated not only with obvious, medically relevant stuff, such as disease manifestation, but also with behaviourand behaviour expressed in the wild, not just in the restricted environment of a laboratory.

That insight led to collaboration with Patricia Wright, a primatologist at the State University of New York, Stony Brook, who helped encourage the Malagasy government to found Ranomafana, and who has been working there for decades. And that led to the lemur-trapping project now joined by Judah. One early discovery from the genetic analyses made possible by this project (admittedly, one that is not of much obvious medical use) is that what appeared to be one species of brown mouse lemur, the species Dr Krasnow and Dr Wright thought they were investigating, is actually two. They live in the same range and are indistinguishable to the human eye. But they can clearly tell each other apart because their genetics show that they diverged several million years ago, and do not interbreed.

Dr Krasnow does, however, have high hopes of the medical side. In particular, as they age, mouse lemurs in captivity sometimes develop the plaques and tangles of abnormal protein seen in human Alzheimers patients. At the same time, they develop behavioural abnormalities, such as forgetfulness. Nothing similar happens naturally in mice. Nor do mice develop the sorts of heart arrhythmias seen in people. But mouse lemurs do. In fact, he and his colleagues have now identified nine types of arrhythmia in their lemurs, each of which corresponds to one found in people.

Though the animals will not be subjected to invasive sampling while alive, the ability to identify them individually in the wild means that their behaviour can be studied, to see if it changes as they age in ways similar to ageing in people. What else might be discovered from this behavioural work remains to be seen, for this is an old-fashioned experiment of the sort that is not testing a specific hypothesis but, rather, searching for leads to pursue.

Meanwhile, back in the lab, and thanks to a technique called single-cell RNA expression profiling, Dr Krasnow and his Stanford colleague Stephen Quake have built a near-complete atlas of lemur cell typesabout 750 in all. This permits a whole new level of investigation. For example, they were able to identify a metastatic cell in the lung of an animal that had had to be put down because it had cancer, as deriving from that animals uterus.

It could all fall flat on its face, of course. For one thing, the field data may shed no light on disease-relevant biology after all. Most of the illnesses that Dr Krasnow is interested in manifest themselves in later life. In humans, such diseases are associated with behaviours which evolution did not foresee, such as consuming processed food or sitting at a desk all day. Since being locked up in a cage and fed a reliable supply of food is equally unnatural, that may also be true for lemurs. It is therefore by no means clear that looking at wild lemurs will add anything. Moreover, illnesses like Alzheimers are not exactly life-elongating. In the wild, any individual manifesting them would probably get short shrift from natural selection. Indeed, there is a whole body of theory which suggests the very reason they manifest only in old age is because, in a state of nature, a human being would probably have died or been killed before they had had a chance to appear.

There is also the political side of things. Though researchers on other species are unlikely to be hostile in principle to mouse lemurs joining the model-animal-research party, whether they will co-operate with the group of newcomers in the far corner who are talking animatedly about the critters remains to be seen. Model animals do, however, require a consensus that that is what they areand this consensus is best built by lots of people studying lots of different aspects of them. So if not enough people join the mouse-lemur clique, the project will be doomed.

Another potential threat is that, although mouse lemurs do not truly share the mini-me human lookalikeness of monkeys and apes, they are still pretty cute. Those opposed to animal experiments of any sorteven the carefully non-invasive work being done by Dr Krasnow and Dr Wrightcould probably make something of that. And the very similarity of physiology to humans that makes the lemurs an attractive subject of study might also be used to argue that they should not be used in research.

Still, it is a bold idea, and certainly worth pursuing. Perhaps the cross-fertilisation of laboratory and field studies in this way will, indeed, turn out to be the wave of the future. In army terms, mouse lemurs are now at boot camp, undergoing basic training. Whether they will pass muster remains to be seen.

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This article appeared in the Science & technology section of the print edition under the headline "New Model Army"

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A tiny primate may join the ranks of the world's model organisms - The Economist

The UPN aims to accelerate the scientific advancement and clinical implementation of precision medicine.

The UPN will operate as a collaborative group of nonprofit academic health centers and other health systems participating in clinical research that is enabled by the UPN through biopharma funding. The initiative aims to advance medical science and identify the genetic roots of human health and disease, by building a large database of research participants' de-identified clinical and genomic data that will be available for research purposes by researchers at UPN member health systems and biopharma companies.

"The UPN aims to accelerate the scientific advancement and clinical implementation of precision medicine, in a manner that provides truly unprecedented return-of-value to our health system members and their research participants, via clinical whole genome sequencing, genetic screening, genetic counseling, research tools, data assets, collaborative interoperability and a significant incremental funding stream, at no charge to the health systems or patients. With the ability to extend invitations to participate to patients across multiple health systems, UPN will be able to provide biopharma researchers unprecedented access to highly harmonized de-identified whole genome and longitudinal EHR data regarding highly specific cohorts drawn from thousands of research participants," said William Moss, CEO of Seven Bridges and the UPN.

"Our unique approach enables us to simultaneously optimize clinical and scientific research value on demand, without making it needlessly difficult to combine de-identified sequencing data and EHR content for large populations, resulting in a highly efficient operating model," Moss continued.

The UPN will operate across many disease states and therapeutic areas, including rare, complex neurodegenerative, psychiatric and autoimmune diseases and disorders, as well as cancer, cardiology and common diseases such as diabetes. The network will begin by aggregating very specific cohorts, measured on the order of thousands of research participants. Ultimately, the UPN's goal is to include over five million sequenced patient volunteers in its active network.

Patients who volunteer for clinical research studies conducted as part of the UPN will need to provide informed consent to participate and can opt at any time to have their de-identified genetic and clinical data removed from the network's database. The privacy of research participants will be strictly protected. Only de-identified genomic and clinical electronic health record (EHR) content will be made available via thehighly secure database. Such data will be used, as part of institutional review board (IRB)-approved research studies, to understand how genes contribute to or protect against various diseases and influence how well patients respond to treatment. In some cases, genomic sequencing may reveal genetic alterations that could change the course of a patient's treatment.

Washington University School of Medicine in St. Louis and its affiliated health system, BJC HealthCare, is the first academic health system to join the UPN as a founding member. The network will expand to include other health systems and consented research participants from those institutions.

"Washington University has a long-standing commitment to advance precision medicine and bring more personalized treatments to our patients," said David H. Perlmutter, MD, Executive Vice Chancellor for Medical Affairs, the George and Carol Bauer Dean, and the Spencer T. and Ann. W. Olin Distinguished Professor at the School of Medicine. "The UPN will be an important part of making this a reality by providing a platform to aggregate clinical and genomic data from research participants and share de-identified data with researchers. The UPN strategy takes another important step in positioning our communities for a new era of precision medicine, with more personalized diagnoses and treatments across many diseases."

With the launch of the UPN, Seven Bridges has assembled a world-class executive leadership team, including Chief Clinical and Research Officer Dr. David Ledbetter. Dr. Ledbetter was previously executive vice president and chief scientific officer at Geisinger Health System where he was the principal investigator for the MyCode biobank and precision health program that exceeded 175,000 patients with exome sequence data linked to rich, longitudinal EHR and other clinical data. He has also been a professor of human genetics at Emory University School of Medicine, the University of Chicago School of Medicine, and Baylor College of Medicine.

"Previous experience from large population genomics projects have shown that healthcare data combined with genomics data can rapidly accelerate knowledge to help prevent disease or to improve patient outcomes, as well as identify new drug targets forbiopharma pipelines.Until now, these valuable data sets have been confined to single health systems rather than aggregated and shared across multiple health systems, or have been siloed by individual commercial entities. The Unified Patient Network will unlock the long-promised benefits of our national investments in health IT and population scale genomics," said David Ledbetter, PhD, Chief Clinical and Research Officer for the UPN. "This unique multi-sided network will bring these stakeholderstogether with the aim of advancing precision medicine through a genomics-enabled learning health system, whereby patients can have their genomes sequenced free of charge, giving researchers greater insights into patient health risks, and biopharmaceutical companies to more easily identify cohorts of patients as part of drug discovery efforts, thereby lowering everyone's costs."

Phillip Payne, PhD, Associate Dean for Health Information and Data Science and Chief Data Scientist at Washington University School of Medicine said,"By bringing health systems together, we can enroll more patients into UPN studies, helping to speed innovative research while also protecting patients' identities and confidentiality. Genome sequencing is expensive and out of reach for most patients, but the UPN is providing such sequencing to research volunteers free of charge. This opens up the technology to many more people, including those in under-resourced communities, and is a huge win from an access and affordability standpoint."

The UPN will receive funding from biopharma companies that request access to research participants' de-identified genomic and health information for the companies' own research. A portion of that funding will be returned to the health systems in the UPN, Payne said, to support efforts to improve their patients' access to medical care and drive the institutions' research and teaching missions.

The UPN has assembled a dynamic team of partners and supporters to advance the high level of collaboration required to build, grow and sustain the network. The ecosystem includes Seven Bridges, Genome Medical, Amazon Web Services, the Broad Institute of MIT and Harvard, Illumina and others.

Partnering closely with Seven Bridges, the UPN is leveraging the Seven Bridges highly-secured research and development ecosystem as the interoperability infrastructure for the network community, and enabling exploration and analysis for complex cohort stratification across populations of millions of patients, via the ARIA scientific intelligence system. The content will be made available only to credentialed researchers as part of IRB-approved research studies, as mutually agreed to by the UPN and the health system members, by leveraging Seven Bridges' proven security, authentication and authorization protocols and technologies.

The UPN is also working with Genome Medical, the leading telehealth provider of genetics and genomics care. "We are pleased that our genomic specialists and technology-enabled clinical support tools will expand access to the benefits of genomic science and medicine within the network," said Lisa Alderson, CEO and co-founder of Genome Medical. "By helping patients and their clinicians better understand and interpret genomic data, health care can best meet the needs of individual patients."

For information on UPN, please visit linkedin.com/company/unifiedpatientnetwork or unifiedpatientnetwork.org.

About Seven Bridges

Seven Bridges enables researchers to extract meaningful insights from genomic and phenotypic data in order to advance precision medicine. The Seven Bridges Ecosystem consists of a compliant analytic platform, intelligently curated content, transformative algorithms, unprecedented access to federated data sets, and expert on-demand professional services. This holistic approach to bioinformatics is enabling researchers at the world's leading academic, biotechnology, clinical diagnostic, government, medical centers, and pharmaceutical entities to increase R&D efficiency, enhance the hypothesis resolution process, isolate critical biomarkers, and even turn a failing clinical trial around while also reducing computational workflow times and data storage costs. To learn more, visit sevenbridges.comor follow us on LinkedInand Twitter.

Media ContactValerie Enes[emailprotected]+1 408-497-8568

SOURCE Seven Bridges

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Seven Bridges Launches Unified Patient Network to Facilitate Clinical Research with Aim to Advance Precision Medicine and Improve Patient Care -...

MENLO PARK, Calif., Dec. 07, 2021 (GLOBE NEWSWIRE) -- PacBio (Nasdaq: PACB), a leading provider of high-quality, highly accurate sequencing platforms, and the UCLA Institute for Precision Health and David Geffen School of Medicine at UCLA have formed a research collaboration to further identify the causes of rare diseases.

The study will leverage PacBio’s HiFi long-read sequencing technology for whole genome sequencing (WGS) to look at undiagnosed pediatric rare disease patients who have already been sequenced with short-read technology.

Dr. Stanley Nelson, Director, California Center for Rare Diseases, and professor, pathology and laboratory medicine and human genetics, David Geffen School of Medicine at UCLA, will be pioneering the combined use of full-length isoform sequencing (ISO-Seq) and long-read WGS in an effort to investigate the effect on diagnostic yield in these unresolved cases.

For rare disease patients, a genetic diagnosis always provides clarity to the whole family and can mean more effective treatments to avoid long-term complications,” explained Nelson. Within our undiagnosed diseases program at UCLA, approximately 50 percent of the rare disease patients we conduct short-read WGS on will still not have a DNA diagnosis. We hope that the knowledge we gain will allow us to reduce that number and give more families a diagnosis.”

We are excited to see the growing interest in PacBio’s HiFi sequencing as an important new tool for detecting large or challenging variants missed by short-read sequencing,” said Christian Henry, President and CEO of PacBio. We are proud to use our technology to support UCLA Health in their commitment to solving medical mysteries and helping to potentially reduce the time to diagnosis.”

To learn more about the benefits of HiFi sequencing in rare disease visit https://www.pacb.com/research-focus/human/rare-disease/.

About PacBio Pacific Biosciences of California, Inc. (NASDAQ: PACB) is empowering life scientists with highly accurate long-read sequencing. The company’s innovative instruments are based on Single Molecule, Real-Time (SMRT®) Sequencing technology, which delivers a comprehensive view of genomes, transcriptomes, and epigenomes, enabling access to the full spectrum of genetic variation in any organism. Cited in thousands of peer-reviewed publications, PacBio® sequencing systems are in use by scientists around the world to drive discovery in human biomedical research, plant and animal sciences, and microbiology. For more information, please visit http://www.pacb.com and follow @PacBio.

PacBio products are provided for Research Use Only. Not for use in diagnostic procedures.

Forward-Looking Statements This press release may contain forward-looking statements” within the meaning of Section 21E of the Securities Exchange Act of 1934, as amended, and the U.S. Private Securities Litigation Reform Act of 1995, including statements relating to PacBio’s collaboration with UCLA Health to further identify causes of rare disease; anticipated efforts and outcomes in connection with such collaboration; and interest in and anticipated capabilities of PacBio’s products and technology, including in connection with the detection of genomic variants and helping to potentially reduce the time to diagnosis. Readers are cautioned not to place undue reliance on these forward-looking statements and any such forward-looking statements are qualified in their entirety by reference to the following cautionary statements. All forward-looking statements speak only as of the date of this press release and are based on current expectations and involve a number of assumptions, risks and uncertainties that could cause the actual results to differ materially from such forward-looking statements. Readers are strongly encouraged to read the full cautionary statements contained in the Company’s filings with the Securities and Exchange Commission, including the risks set forth in the company’s Forms 8-K, 10-K, and 10-Q. The Company disclaims any obligation to update or revise any forward-looking statements.

Contacts Investors: Todd Friedman ir@pacificbiosciences.com

Media: Kathy Lynch pr@pacificbiosciences.com

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PacBio and UCLA Health Announce Research Collaboration for Whole Genome Sequencing in Rare Diseases - Stockhouse

c/o Caroline Pitton

One of the best known faces to students even before they enroll at the University, Caroline Pittons 22 smiling face framed by her famous bangs is plastered on the wall of the admissions office, where she can frequently be found when she is not working in a research lab, TAing, or singing. The Argus caught up with Pitton to talk about her time on campus and her future beyond it.

The Argus: Why do you think you were nominated to be a WesCeleb?

Caroline Pitton: I was genuinely so surprised when you told me cause I dont think I know enough people to be a WesCeleb. I feel like I just walk around and recognize most people that pass me, but I think I have a very public-facing job. I work as a senior interviewer in the Office of Admission, and Ive worked in admissions since literally the first week of my freshman year. I used to plan WesFest and Open House, and now I talk to prospective students a lot. That job is the most fun place to work on campus. Everyone who works there is so outgoing and friendly. I also TA a lot so if you took intro bio or intro chem or some French classes, chances are youve seen me as your TA.

A: What are your majors?

CP: Im a biology and French double major with an informatics and modeling minor. I came into Wesleyan knowing I wanted to do biology, and then my pre-major advisor was a French professor and that was a happy accident. Then, I did my minor almost completely by accident. One day [I] was talking to another bio major and figured out that Id done five of the six credits for [the modeling] minor.

A: Did you speak French prior to coming to Wes?

CP: My moms entire extended family lives in France. They do not speak English whatsoever, so she spoke to me in French when I was a baby, and that kind of tapered off, especially when my brother was born and life got wild. I went to a French and English school and all of the kids who went there only spoke French, so I really had to learn how to speak, to communicate with my classmates. I wasnt super invested in the study of French language and culture until I got a couple years into college and I realized how fun it is to speak another language and think about cultures that arent those that youve grown up in.

A: How did you know you wanted to be a bio major?

CP: I was really supported in my science classes in middle and high school. I thought I might want to be a math major at some point but I took intro bio as a freshman in my first semester. I went in and I was like, I think I wanna be a bio major, but if I hate intro bio, its okay to change my mind. I loved it, but I think its not a given that biology majors like intro bio [because] our intro bio curriculum is challenging and fast-paced and intense. Every bio class Ive taken since then Ive liked even more. Its my favorite academic discipline in the world. I could talk your ear off about biology. Thats what I want to do academically and career-wise in the future. Biology is what I want to think about every day.

A: Have you had a favorite class or professor at Wesleyan?

CP: My favorite professor at this university is Professor Joe Coolon in the Biology department. Hes my research advisor. Ive been in his lab since I was a sophomore and we study genomics in fruit flies and yeast. He is one of the best teachers and academic mentors I could ever ask to have. Every time I talk to him, he makes me so excited about science. He has this really infectious energy. He always wants to know whats going on, with my work but also with my life and with my future plans. And he creates a really fun lab environment where everyone works together really well and is genuinely friends in and outside of the work environment.

A: What are you researching?

CP: I spent my whole junior year and the summer after my junior year researching a system in fruit flies that we can use to turn on and off the expression of specific genes, which is very niche. But I looked at this one system and I did a lot of bioinformatics analysis and then I finished that project over the summer, and now Im working on a few other projects. They all have to do with what happens when we expose fruit flies to different environmental toxins, like pesticides, and what happens in the fruit fly genome. Like, which genes get turned on? Do some genes turn on more than other genes? Do they turn off? How do those genes interact?

A: What else are you involved with on campus?

CP: Up until this semester, I sang with Onomatopoeia, the acapella group. I had to take a step back from that this semester, but that was one of the most formative and most fun parts of my college experience. I also music directed two shows for Second Stage my freshman and sophomore years. The friends that I made doing theater and acapella, I still hold so closely.

A: You mentioned that you started working in admissions the first week of [your first] year. How did that happen?

CP: I walked on campus and I was like, okay, I need to find a work-study job. And they have a job fair with a table for admissions. I was like, that seems like a fun place to work. As a [first year], its one of the only offices at Wesleyan that you are aware exists because its the office that you interact with before you are a student. I literally just filled out an application for a random job, which happened to be the intern job, which is event planning mostly. I met a lot of really cool people through it, and working in the Office of Admission gives you a really nice support network of other students, but also the professional adult staff that work there. Going to work three times a week and seeing the same people and having office chit-chat and building those relationships that still exist three years later was really stabilizing.

A: What are your plans after graduation?

CP: Im going to be a research associate in a lab at the Dana Farber Cancer Institute in Boston. Im working in a lab that studies the genetics and genomics of blood cancers. Im also really lucky that I found a job this early. Its a lot of biology concepts that I learn about and I practice in my undergraduate lab and classes, but its applied to medicine and to people in a way that we dont do at Wesleyan, which is really exciting to me as someone that wants to work more in medical research and human genetics in the future.

A: How do you think your friends would describe you?

CP: They make fun of me for how much I talk about flies, but also people know me as having bangs. So when we have conversations about how my housemates describe each other to people that dont know us, I am the short one with bangs who works in admissions.

A: Did you ever not have bangs?

CP: I have quite literally never not had bangs. At my first haircut where I had a substantial amount of hair, my mom said, I think bangs would be cute. And I was two years old, and now Im 21 and I still have bangs. I considered growing them out during COVID-19, but then I had an identity crisis. And I was like, Im gonna come back for my junior year in a mask and Im not gonna have bangs. No one will recognize me; the bangs have to stay.

A: Do you have a favorite Wesleyan story?

CP: One that really stuck with me, especially during COVID-19, was in February of 2020. Ono and Slender James threw a kegcert, which is a concert with a keg in a Fauver. It was the weekend before spring break and it was probably the most fun concert that wed ever done in anyones memory of people that were in Ono at the time. The singing, I think, was good, but it was more like, the energy was really exciting and it was a packed Fauver. All of our friends were there and were screaming and people were dancing. I remember finishing that concert and everyone in Ono was like, That was so fun. We have to do that again. Then obviously we all went home and [didnt come] back. I think for a long time, especially last year when no one was socializing, that was something that I really held onto as being like the last real party that I had been to. And it was such funthere was nothing bad about that night.

A: What are you most proud of in your time at Wes?

CP: Im really proud of how I pushed myself out of my comfort zone to try new things during my time at Wesleyan. I didnt become complacent. I mentioned doing student theater. I had never done theater before college. That was totally out of my comfort zone, and Im so glad I did it. I had so much fun and I learned a lot. Same with research. I didnt think I wanted to do research and then I tried it, and now its literally what Im doing for a job next year. And same with the French major. I had never thought of myself as a humanities person, and now I read French literature.Im proud that I didnt box myself into only doing one thing and how much I got to learn from my peers at Wesleyan. I think that other students are what make this place so special. Im glad that I really took advantage of getting to know everyone around me.

This interview has been edited for length and clarity.

Hallie Sternberg can be reached at hsternberg@wesleyan.edu.

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WesCeleb Caroline Pitton '22: The Short One with Bangs Who Works in Admissions - Wesleyan Argus

Published on December 10, 2021

SKMCs Dr. Shaden Abdelhadi shares the story of her prolific career and how support from SEHA is helping women working in healthcare achieve their dreams

Abu Dhabi Health Services Company (SEHA), the UAEs largest healthcare network, is continuing with its efforts to propel the careers of young and ambitious female doctors.

Setting an example of perseverance and sheer determination, coupled with excellence in her field, is Dr. Shaden Abdelhadi, FRCP (Edin), FAAD is an internationally trained Emirati Pediatric Dermatologist specializing in human genetic skin disorders at the Genetic Pediatric Dermatology Unit at Sheikh Khalifa Medical City (SKMC), part of SEHA.

Dr. Abdelhadi said: To women in medicine, I urge you to continue persevering, irrespective of the challenges you may encounter. Forge ahead and never lose sight of the patients whose health we strive to better every single day. I consider myself supremely lucky to have received the right support during my career. I joined SEHA in 2005 as a Staff Physician in the Department of Medicine at SKMC. The tremendous support I have received in terms of training, access to opportunities and resources, played a major contributing role in where I stand today as a dermatologist.

One of the most respected medical professionals working in her area of expertise, Dr. Abdelhadi acknowledges how education has shaped her career. I consider it an absolute privilege to have had such an extensive education. From becoming a Department of Health (DoH) Specialist through the Arab Board Dermatology Residency Program at SKMC in 2012, to gaining clinical training experience at the Childrens Hospital of Washington University in Seattle, and St. Thomas Hospital in London, every step has added a new dimension to my clinical understanding.

Gaining the Postgraduate Belgium Board Certificate in Pediatric Dermatology (2017) and the Interdisciplinary Board Certificate in Human Medical Genetics (2018) were both challenges that bolstered my self-confidence. In my line of work, real-world experience is an absolute necessity, and I am truly grateful for having received it through my fellowships with the Royal College of Physicians, Edinburgh; American Academy of Dermatology; European Academy of Dermatology and Venereology; and the European Society of Pediatric Dermatology.

Dr. Abdelhadi is currently a member of the International Society of Pediatric Dermatology and a member of the Editorial Board of Dermatologic Therapy, one of Europes leading scientific publications. She was recently elected to the UAE Dermatology Specialty Committee, which is leading the future of postgraduate education in dermatology in the UAE.

Despite having reached the zenith of professional success, Dr. Abdelhadi maintains there is no greater joy than to teach. What use is a wealth of knowledge if one isnt willing to share it? I am currently an Assistant Professor of Dermatology at the College of Medicine and Health Sciences, Khalifa University in Abu Dhabi, and a core faculty member at the Arab Board Dermatology Residency Program at SKMC. I thrive on the discussions I have with my students; it keeps adding a fresh perspective to my understanding of medicine.

I am passionate about disseminating national and international education in the treatment of pediatric dermatology and pediatric genetic skin diseases. In my opinion, medical education never ceases, you must constantly keep yourself updated. Since 2016, I have been the co-founder and Vice President of several annual international pediatric dermatology conferences precisely for this reason.

Dr. Abdelhadi is a leading figure in helping SEHA deliver excellence in healthcare. She has been instrumental in efforts to have the Arab Board Dermatology Residency Program at SKMC accredited by the American Council for Graduate Medical Education (ACGME), making it the worlds second US accredited dermatology residency program outside the USA. Furthermore, she also set up the UAEs first Multidisciplinary Epidermolysis Bullosa Center.

Speaking about the immense support she has received at SEHA, Dr. Abdelhadi said: SEHA has played a key role in my training and supported my ambition of becoming a uniquely specialized physician. With SEHA being a leader in medical education, I believe I can work closely with the National Institute of Health Sciences in better planning the medical specialties and sub-specialties the UAE needs.

Dr. Abdelhadis route to success, however, has not been without challenges, with slow and bureaucratic processes, changing priorities and decisions all hurdles that needed to be overcome.

There is no success without challenges, she said. To all the budding female doctors in the region, I hope my journey serves as a reminder that nothing is impossible if you have enough perseverance.

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Inspiring Young Female Doctors in the UAE and Beyond - APN News