Category Archives: Human Genetics

Two University of Chicago Medicineled studies were selected by the Clinical Research (CR) Forum as among the top three best clinical research papers of 2016.

CR Forum is a national organization of senior researchers and leaders in clinical thought from leading academic health centers, pharmaceutical firms, information technology, and nonprofits.

The Herbert Pardes Clinical Research Excellence Award is the CR Forums highest honor, and comes with a $5,000 cash prize. This year, it was awarded to geneticist Carole Ober, Ph.D., University chairman and professor of human genetics, and immunologist Anne Sperling, Ph.D., University associate professor of medicine, for their study, Innate Immunity and Asthma Risk in Amish and Hutterite Farm Children, published August 4, 2016, in the New England Journal of Medicine.

The study examines environmental risk factors for susceptibility to asthma and allergies, comparing two U.S. farming populations: the Amish of Indiana and the Hutterites of South Dakota.

The Distinguished Clinical Research Achievement Awards honor two studies that demonstrate creativity or innovation, and whose works have an immediate impact on the well-being of patients. One of these was granted to University professors Bhakti Patel, M.D., and John P. Kress, M.D., for their study titled Effect of Noninvasive Ventilation Delivered by Helmet vs. Face Mask on the Rate of Endotracheal Intubation in Patients with Acute Respiratory Distress Syndrome.

The study found that helmet ventilation, as opposed to a traditional face mask, dramatically reduced the chances of patients needing a tube ventilator, and made patients 20 percent more likely to survive Acute Respiratory Distress Syndrome.

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Two UChicago Medical Studies Among 2016's Best Research Papers - The Chicago Maroon

by Amrita Surendranath, Masters in Human Genetics, Xcode Life Sciences

In 2010, the US Food and Drug Administration (FDA) issued a warning on the box of the anti-clotting drug Clopidogrel that patients who do not metabolize the drug will not receive the full benefits of the drug. This, in essence, is a landmark that highlights the importance of personalized care in the emerging field of precision medicine. In retrospect, Clopidrogels failure among certain patients hardly seems surprising: patients are genetically diverse, and such variation affects patients response to particular therapies. Roughly 75% of the U.S. population does not metabolize medications normally and 2.2 million severe Adverse Drug Events (ADEs) occur in the U.S. every year. Genetics can account for 20-95% of the variability in an individuals response to drugs. Medicare fined three-quarters of eligible hospitals for re-admissions in 2014. Current FDA guidance recommends that Drug-gene interactions should be considered similar in scope to drug-drug interactions. Precision medicine takes advantage of the genetic diversity that exists to tailor treatments to those patients who are most likely to respond.

Clopidogrel is a widely used anti-clotting drug and according to Dr. P. Manokar, MD, DM, Professor of Cardiology, Sri Ramachandra University Clopidogrel is like a panacea of all cardiac and vascular diseases from Stroke prevention to Peripheral artery disease to coronary Interventions. It is the essence of pharmacotherapy for all Vascular Disease Scenarios. When the outcomes of treatment are poor, it could prompt some patients from taking the treatment while the condition being treated could turn worse, wasting precious time, effort and money.

Dr. Abraham Ooman, a leading Cardiologist, has also shown interest in genetic testing, stating that here is a need for genetic testing to determine the response to Clopidogrel, especially during high risk cardiac interventions like left main stenting, however, he adds a quick note of caution, but clinical studies are unclear about how effective the current methods are. When the approach to care is evidence based instead of resorting to a trial and error method of prescribing medications, it could help avoid side effects associated with drug use and could, possibly, lower health care costs. In recognition of the promise shown by precision medicine, Ex-President of the United States, Barack Obama, in 2015, announced a nationwide research called the Precision Medicine Initiative for conditions associated with cardiovascular disease, neurodegenerative disease, cancer and autoimmune disorders. In Obamas words, most medical treatments have been designed for the average patient, treatments can be very successful for some patients but not for others.

Though there have been considerable strides in the treatment of cardiovascular disease, cardiovascular disease related death is still one of the most common cause of death. This creates a need to utilize precision medicine to identify patients who would benefit from the treatment provided. As Dr. Manokar says It is very difficult to predict who responds to clopidogrel unless you have an event as a consequence of clopidogrel resistance. You begin a search with your backs to the wall situation. Testing would allay the anxiety of the Doctor and the patient equally

The importance of testing for responders, however, lies in the options that are available, as Dr. Manokar says, The other treatment options are tricky. They come with a whole bag of indications and contraindications which make the options difficult to choose. Both Ticagelor and Prasugrel are niche molecules but need huge brainstorming before choosing as an alternative to Clopidogrel. The enthusiasm shared by doctors and the regulators are shared by drug companies too with 28 percent of drugs that were approved by the FDA in 2015, considered to be precision medicine based therapies.

The concept of genetic testing is not new and is an essential medical tool that has been used by the medical community for decades to look deeper into the human body for myriad determinations. Chromosomes are investigated for carrier testing, newborn screening, prenatal diagnosis, diagnostic testing, paternity, genealogy and forensics testing. So, testing for responders is a natural progression and Testing is always cost effective. It offers intangible benefits in terms of allaying anxiety, long term outcomes, more than the tangible benefits in terms of choice of drugs and duration of therapy, said Dr. Manokar. Though, he further stated that the additional cost is an important determinant of the number of patients that we would test routinely. It is important also with respect to Ticagelor switch since it is the most expensive drug in this group.

Clinically, the use of pharmacogenetics could potentially include vast areas like new drug development, drug discovery research, the genetic testing of patients and clinical patient management. The ultimate aim of pharmacogenetics is to predict genetic response of patients to a specific drug to deliver the best possible medical treatment. By predicting the drug response of an individual, it will be possible to increase the success of therapies and reduce the incidence of adverse side effects. Personalized medicine is the logical way forward, however, it should pass the necessary scientific scrutiny of clinical trials, said Dr. Abraham stressing the need to accept this aspect of medical science as the way ahead.

A single method of treatment for everyone is unrealistic in the current understanding of medical science because of the complex interplay between genes, cell metabolism, proteins and environmental influences. As Dr. Manokar puts it, future of pharmacology is going to be pharmacogenomics. Patient centric medicine and genome tailored pharmacotherapy will be the norm rather than the exception.

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Genetic testing could hold the key to reduce adverse events in heart stent implantation - ETHealthworld.com

This is a story of nature and nurture.

Scientists at the University of WisconsinMadisons Waisman Center have shown one way in which human genetics and chronic stress interact to shape health and well-being later in life.

According to the study, published recently in the American Journal of Medical Genetics: Neuropsychiatric Genetics, individuals who both have specific variations of a particular gene called fragile X mental retardation 1, or FMR1, and experience higher levels of stress throughout their adulthood face poorer health and more physical and cognitive challenges when older.

In this era of precision medicine, its vital that we understand why some people may have more health symptoms or functional limitations later in life than others, says Marsha Mailick, UWMadison vice chancellor for research and graduate education, Waisman Center investigator and lead author of the study.

Marsha Mailick

The FMR1 gene contains varying numbers of a DNA pattern called a CGG triplet repeat. The letters refer to nucleotides, which form the building blocks of DNA. In humans, the most common number of CGG repeats in this gene is 30. Repeat numbers higher than 200 lead to fragile X syndrome, a rare genetic condition that causes intellectual disability and behavioral, physical and learning challenges.

The researchers looked at CGG repeat numbers in more than 5,500 people drawn from the Wisconsin Longitudinal Study, a long-term study funded by the National Institutes of Health. They represented a random sample of men and women who graduated from Wisconsin high schools in 1957. All of them were parents and they averaged 71 years of age.

A subset of these parents had adult children with developmental or mental health disabilities; the rest had adult children who did not have chronic disabilities.

While all parenting is both stressful and joyful, parents of children with disabilities face some unique challenges throughout the lifespan, says Mailick. Over time the stress of parenting a child with disabilities can add up.

Mailick and her colleagues categorized parents of children with disabilities as a high-stress group and explored whether they faced more health challenges compared to a lower-stress group parents of children without disabilities.

The results were complex. Many of the parents in the high-stress group did show poorer health and well-being compared to the lower-stress group, but others did not. Whether the parents faced more physical and cognitive challenges when older was dependent on their numbers of FMR1 CGG repeats.

Parents in the high-stress group who also had either significantly more than or significantly fewer than 30 CGG repeats in their FMR1 gene were less healthy and faced more limitations in old age compared to parents of children without disabilities.

But for people with about 30 CGG repeats, their level of stress doesnt differentiate their health and wellbeing, says Mailick.

The researchers also found that in the lower-stress group, individuals with significantly more than or fewer than 30 CGG repeats actually had better health and fewer limitations than those with the normal number of CGG repeats.

This shows that its not only about genetics and not only about the environment, but how the two interact and together affect human health, says Mailick.

Researchers call this the flip-flop effect or differential susceptibility, where people with the same genetic background can have very different life outcomes depending on their environments.

Some people thrive in any environment, but others, with different genetic profiles, may find their health and well-being more susceptible to their circumstances and surroundings, says Mailick.

The study is also an example of how research that started by focusing on a rare genetic condition fragile X syndrome can lead to insights about variation in the general population, Mailick adds.

She would like to expand the study to a larger and more diverse population, and use new techniques and tools in population genetics and precision medicine to help. Our goal is to find out what we can do today to make tomorrow better, she says.

Other authors of the study include Paul Rathouz, chair of biostatistics and medical informatics at UWMadison, Jan Greenberg, associate vice chancellor for research and graduate education, Mei Baker at the Wisconsin State Lab of Hygiene, and Jinkuk Hong and Leann Smith DaWalt. All co-authors are affiliated with the UWMadison Waisman Center.

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Genetics and stress interact to shape human health and well-being - University of Wisconsin-Madison

Rarely mentioned by academics, is that the Ethiopian Jews historically owned slaves. Until the second half of the 20th century, Ethiopia was primarily an agricultural medieval society where slavery was a mainstream institution connected to the countrys agricultural system.

Primarily relocated from Ethiopia to Israel as part of Israeli rescue operations in the 1980s, the Ethiopian Jews today comprise a distinct minority of the Israeli nation. Their settlements were spread along the northwestern region and the border area with the Sudan. Thus, the Ethiopian Jews have always represented a border population and a peripheral entity of Abyssinia. Note that Abyssinia is the state and society that dominated the bulk of the geographical region of what is today Ethiopia.

While the Ethiopian Jews were referred to by the other Ethiopians as Falasha, meaning strangers, they traditionally referred to themselves as Beta Israel, meaning the House of Israel. From a historical standpoint, the term Beta Israel is more appropriate, and thus, is used in this article to label the community we know today as the Ethiopian Jews.

From a scientific perspective, the fact that the Beta Israel have owned slaves is particularly important when it comes to analyzing genetics. It demonstrates the fact that the group, as known today, is not as homogeneous as is often assumed. As I discussed in a previous article, the majority show physical features suggesting ancestries from populations originating in nearby regions, particularly the Nile Valley area of Northern Sudan. A minority resemble native Agaw populations from what is today northwestern Ethiopia. An even smaller minority who descended from former slavesand are the main subject of study in this articleshow distinctive West African physical features, as well as features of populations from nearby savanna regions like South Sudan.

Hagar Salamon, is the first researcher to investigate and publish work on the practice of slavery among the Beta Israel with considerable depth. In fact, Salamon has dedicated an entire chapter of her book The Hyena People titled Flesh and Bones: Jewish Masters, Jewish Slaves to this subject. Despite of her genuine efforts, Salamon has over-analyzed the subject. She goes as far as to introduce new vocabulary, such as flesh and bones, in order to explain the perception of slaves in the Abyssinian society. In reality, the slavery system in Abyssinia was much like theslavery system established in the Mediterranean basin and North America.

The slaves were either abducted or manipulated to leave their native lands to live in bondage. They were sold in open markets throughout Abyssinia. Even after Haile Selassie abolished slavery in 1942, the institution continuedunderground until the 1980s, particularly in the rural agricultural areas of the north.

After being bought, the slave was given a new name and forced to convert to the religion of the owner. Although the slaves of the Beta Israel underwent Jewish conversion rituals, they werent considered Jewish by their Beta Israel masters. But the conversion accomplished two things: First, itserved to further solidify the masters ownership. Second, it helpedestablish a religious basis for slavery.

As mentioned earlier, the slaves were brought from the very southern regions of what is today Ethiopia, south of the Abyssinian domain, and from savanna regions in what is today South Sudan. These victimized populations were primarily pagan and lived as small subsistent societies with limited or no contact with the outside world. An undefined percentage of the slaves were of West/Central African descent, an ethnic group called Barya, which settled in the eastern region of what is today South Sudan, perhaps as early as the 4th century CE; they were enslaved by the Abyssinians at a later date. Hence, it is no coincidence that the term Barya is used as a synonym to any slave in the Abyssinian society.

Abyssinian traditions describe the Barya, or slaves, with a broad set of physical features, including frizzy hair, harsh skin textures, wide noses, and muscular bodies. However, since a long time has passed subsequent to the abolition of slavery, and slaves were no longer imported, the current Barya are primarily the descendants of mixed relations with slave owners. Worth noting is that the mixed offspring of a free person and a Barya is still considered as an un-mixed Baryaas Salamon explains The smallest drop of barya blood would make the infant a barya.

A variety of social rules have regulated the life and restricted the freedoms of the Barya. In Beta Israel communities, for example, the Barya were not allowed to walk too close to religious scriptures. They also were prohibited from burying other Barya in Beta Israel cemeteries. Intermarriage between a Beta Israel and a Barya was strictly forbidden. However, male masters were free to exploit the female Barya as they wished.

The study on Beta Israel genetics that is commonly considered as the decisive scientific evidence on the origins of the Ethiopian Jews, was published in 1999 by Gerard Luctotte and Pierre Smets of the International Institute of Anthropology in Paris. The study has explicitly concluded that the Beta Israel are descended from ancient inhabitants of Ethiopia who converted to Judaism. This research has come to represent a popular scientific proof to the conventional theory established by James Quirin; that the Ethiopian Jews do not have an ancient Israelite ancestry.

It is worth noting that these studies do not take into consideration the genetic diversity that characterizes the Beta Israel population, as well as the outcome of this diversity in a probable Israelite genetic heritage. More importantly, and contrary to popular belief, genetic studies are inconclusive when it comes to determining the ancient origins of ethnic groups.

As part of a correspondence with Genetic Literacy Project founder Jon Entine, and author of the book Abrahams Children: Race, Identity, and the DNA of the Chosen People, I asked: Do genetic studies that seek to determine the ancient ancestries of populations produce results with 100% accuracy? He answered:

Good question. No, they are always guestimates. Its analyzing gene frequencies based on sometimes robust data but sometimes scanty data. A lot of it is story tellingnarratives suggested by the DNA from todays populations and recovered ancient resources. But it can be revised, and plenty of ancient narratives have been changed as new data have emerged.

Interestingly enough, and as I cited in a previous article, a later genetic studypublished by the American Journal of Human Genetics and reported by the BBC in 2012 on the ancient origins of Ethiopians concludes that Ethiopians mixed with Egyptian, Israeli or Syrian populations about 3,000 years ago.

Ibrahim M. Omer is a 3D Animation specialist with interest in the reconstruction of ancient historical settings. He has worked as an academic in the social science areas of linguistics, culture, andhistory. Twiter:@onguisaac.He is the author of the academic websiteAncientSudan.org.

For more background on the Genetic Literacy Project, read GLP on Wikipedia

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Ethiopian Jewry: Genetics of the Beta Israel muddied by historical slave ownership - Genetic Literacy Project

In a study published today in PLoS ONE, a team of researchers reports solving a medical mystery in a days work. In record-time detective work, the scientists narrowed down the genetic cause of intellectual disability in four male patients to a deletion of a small section of the X chromosome that had not been previously linked to a medical condition.

Even with the current technological advances, solving medical mysteries such as this one usually entails a much longer period of research. We found it very interesting how fast we went from knowing nothing about the genetic cause of one patients condition, to discovering the cause and finding three more individuals with the same problems, said senior author Dr. Daryl A. Scott, associate professor of molecular and human genetics at Baylor College of Medicine. It took us a year to get all the documentation for writing and publishing the report, but the actual discovery was within hours. It was essential to our discovery that we had at our disposal technology to find and search genomic databases, and to connect electronically and exchange information with other researchers around the world.

Modern day medical detective work

It all began on a Thursday, Scotts day to visit patients with developmental disabilities in clinic. For one of the patients, a young male with intellectual disability, developmental delay, macrocephaly (enlarged head) and very flexible joints, our genetics lab indicated that the patient did not seem to have any known genetic changes that could explain his condition, said Scott. I saw a relatively small deletion in the X chromosome, identified as Xp11.22; it had only a few genes in it. The lab indicated that there had been no previous reports about this particular part of the genome causing any kind of medical problems.

Two of the genes in the deleted section of the patients X chromosome were MAGED1 and GSPT2. To have an idea of what these genes might do, I searched a database that describes the functions of genes in the mouse and found that mice that have a deletion of the Maged1 gene have neurocognitive behavioral abnormalities. This caught my interest as it related to my patients condition.

To make his case that deletions in Xp11.22 caused the clinical features of his patient, Scott needed to find more patients presenting similar clinical conditions and deletions. He searched two large genomic databases looking for more patients.

After searching the DECIPHER database, Scott found one patient carrying almost the exact same deletion as his patient, but there was no information about the individuals clinical problems. Scott immediately sent an electronic message to the physician, co-author Dr. Alex Henderson, at The Newcastle upon Tyne Hospitals in England, in order to learn more about the clinical characteristics of his patient.

Then, Scott contacted co-author Dr. Seema Lalani, associate professor of molecular and human Genetics at Baylor and assistant laboratory director of cytogenetics at Baylor Genetics. Lalani searched the Baylor Genetics database of 60,000 cases for patients with the deletion.

After carrying on this detective electronic work, Scott went to see his patient. By early afternoon, he was back in his office checking his email. He found a message from Henderson. He had two male patients (siblings) with the deletion, and intellectual disability, developmental delay and super mobile joints! Shortly after, Lalani informed Scott that co-author Dr. Patricia Evans, professor of pediatrics, neurology and neurotherapeutics at the University of Texas Southwestern Medical School in Dallas had a patient with the Xp11.22 deletion and the same clinical features as Scotts patient.

In a days work we identified four patients in two continents, involving 3 families and it was all put together within 8 hours, Scott said. None of the patients and their families had an explanation for the condition before this work. Our findings allowed us to provide them with a genetic diagnosis.

In every case the mothers are carriers for these deletions but they do not have any apparent symptoms, said Scott. Yet, they can have male children that have significant problems. With this information, we can say to the parents that they have a 50 percent chance of passing this X chromosome with the deletion to a male child. Female children have a 50 percent chance of being carriers. This represents a significant change for the parents; they can now make informed decisions about future family planning.

Other contributors of this work include Christina Grau, Molly Starkovich, Mahshid S. Azamian, Fan Xia and Sau Wai Cheung.

This work was supported by the National Institutes of Health/ National Institute of General Medical Sciences Initiative for Maximizing Student Development [R25 GM056929-16].

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Medical mystery solved in record time - Baylor College of Medicine News (press release)

The joke that married couples can appear similar may in fact be due to the tendency for couples to marry someone from a similar ancestry whether they are aware of it or not.

Thats according to a new study published recently in PLOS Genetics.

In the first ever investigation into mating patterns across multiple generations in the United States, researchers examined genetic similarities between spouses in three generations of families.

The participants took part in the Framingham Heart Study, which has examined the heart health of residents in Framingham, Mass., since 1948.

The researchers from the University of Pennsylvania, the Boston University School of Public Health, and the University of California San Francisco found that of the 879 spouse participants, those from Northern European, Southern European, and Ashkenazi backgrounds were more likely to choose a spouse from the same ancestry.

Read more: Love your spouse? Prove it on Facebook

The researchers say choosing a partner from a similar background could be due to a number of reasons.

Mate choice reflects a large number of factors including local geodemographics, social class, nationality, ethnicity, religion, anthropometric traits such as height and weight, as well as behavioral characteristics, the researchers wrote.

These patterns may also have reflected neighborhood characteristics, and the tendency for unions to occur locally.

The study found that those from later generations were less likely to choose a spouse from the same ancestry.

Intermixing between participants with Northwestern and Southern European ancestries was relatively uncommon in the original cohort but increased in subsequent generations, they wrote.

This may be due to the tendency for younger generations to move around more frequently.

While unions historically have been preferentially local, increased movements of the population over past decades are contributing to the decay of local endogamy, as seen in Framingham, the researchers found.

Read more: Nagging wives makes husbands healthier

Genetic similarity within a population is of particular significance in the area of genomic studies as it can lead to false positives in identifying gene regions associated with disease.

It can also impact estimations of the degree to which a disease may be passed on genetically.

Over several generations, the tendency for people to pick a mate from a similar ancestry has resulted in a genetic structure that has potential to bias results of genetic studies.

Professor Peter Ralph from the Institute of Ecology and Evolution at the University of Oregon, says that in small populations, genetic similarity can also have health consequences.

In very genetically similar populations there are often increased risks of some genetic diseases, because it is effectively more likely someone gets two broken copies of some particular gene.In practice, this only shows up in very small populations, or ones that have been very small in the recent past, he told Healthline.

Ralph emphasizes that the findings of this study shouldnt be misinterpreted.

There is an implication in some of the news about this study that there's some genetic cause that makes people find more similar spouses but that's not supported by this study at all [or claimed by the authors], he said.

Noah Rosenberg, PhD, is a professor of population genetics and society at Stanford University. He says the research could pave the way for improving genetic studies of disease.

Many research methods in human genetics rely on an assumption that people choose mates randomly within a population. Although this of course is not how people choose mates, real populations often are close enough to random mating for the research methods to work properly, he told Healthline.

This study disentangles the component of nonrandom mating that is due to assortative mating by ancestry, evaluating changing preferences that people have had over time in a New England town for mates from similar ancestral backgrounds. It finds a way to improve genetic studies of disease to account for the effects of assortative mating by ancestry.

Read more: Do you have relationship OCD?

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Are You Related to the Person You Married? - Healthline

Barcode of Life is a project to identify and store information on the worlds living things. (barcode for life website photo)

Since I started working as a geneticist in the early 1960s, the field has changed considerably.

By David Suzuki

Since I started working as a geneticist in the early 1960s, the field has changed considerably. James Watson, Francis Crick and Maurice Wilkins won the 1962 Nobel Prize in physiology or medicine for their discovery of the double helix structure of DNA. Researchers then cracked the genetic code, which held promise for fields like health and medicine. It was an exciting time to be working in the lab.

More than 40 years later, in 2003, an international group of scientists sequenced the entire human genetic code. Researchers can now find a gene suspected to cause a disease in a matter of days, a process that took years before the Human Genome Project. As of 2013, more than 2,000 genetic tests were available for human conditions. Forty years ago, I never dreamed scientists would have the knowledge and manipulative capabilities that have become standard practice today.

In a couple of decades, genetics has allowed for systematic inventorying of the worlds biodiversity. Canadas Centre for Biodiversity Genomics at the University of Guelph has the genomes of more than 265,000 named species identified with barcodes in its database. The cost to analyze a sample against this free public database is about $10. Cost reductions and digital communication allow citizen scientists to utilize an enormous storehouse of information.

Young citizen scientists in San Diego were recently able to help compile information about the areas biodiversity through their local libraries. Kids signed out genetic testing kits which included sampling vials, tweezers and a return bag through Catalog of Life @ the Library. They then uploaded photos and locations of their finds using a LifeScanner app or website. Its part of an effort to collect 4,000 samples of local bug life. After returning kits to the library, the young scientists could go online to see and compare the genetic barcodes of their discoveries.

According to the library, Only an estimated 20 per cent of species on earth have been identified by their DNA barcode. The San Diego program is part of Barcode of Life, which has the ambitious goal of identifying all life on Earth to help researchers understand the diversity of species, monitor the health of the environment and the impacts of climate change. Canadas Centre for Biodiversity Genomics is doing the genetic sequencing.

People in Canada can also help identify seafood fraud with the LifeScanner service. Genetic testing helps consumers identify the species and possibly origin of fish they buy important for people who care about sustainability and health and nutrition.

Identifying and tracing seafood has long been a challenge, especially because about 40 per cent of wild-caught seafood is traded internationally and labelling is often inadequate. Once fish are skinned, cleaned and packaged, its not always easy to tell what they are. If you buy something labelled rockfish in Canada, it could be one of more than 100 species. Often, labels dont indicate whether the fish were caught or processed sustainably. Although the European Union and U.S. require more information on seafood labels than Canada, one study found 41 per cent of U.S. seafood is mislabelled.

A European study found stronger policies combined with public information led to less mislabelling. People in Canada have demanded better legislation to trace seafood products. More than 12,000 people recently sent letters to government asking for better labelling.

SeaChoice (the David Suzuki Foundation is a member) is working with LifeScanner to register 300 people in Canada to test seafood, in part to determine whether labels are accurate. Participants will get testing kits, buy seafood, collect data and images and return samples in a provided envelope. Samples will be analyzed and coded, with results posted online.

With the help of citizen scientists, genetic testing can offer a powerful approach to righting environmental wrongs. Combining crowd-sourced scientific data, public policy reform and consumer activism is already showing positive results. The same approach could work in areas such as testing for antibiotics, pesticide and mercury residues and more.

DNA Day is celebrated in Canada on April 21 and the U.S. on April 25, to commemorate completion of the Human Genome Project in 2003 and discovery of DNAs double helix in 1953. Weve come a long way since then, but we still have much to learn. Citizen scientists are helping!

David Suzuki is a scientist, broadcaster, author and co-founder of the David Suzuki Foundation. Written with contributions from David Suzuki Foundation Senior Editor Ian Hanington.

Learn more at http://www.davidsuzuki.org.

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David Suzuki: Citizen science and genetic testing yield positive results - Cowichan Valley Citizen

A common way for scientists to learn what a particular gene does is to breed animals with a mutation in that gene, then study what happens.

That is not an option in humans. But a powerful new study, whose leaders included scientists from the University of Pennsylvania, illustrates the next best option: taking what nature gives you.

Upon studying the genomes of more than 10,000 people in Pakistan, the authors said they had identified more than 1,800 knockouts people in whom copies of a gene inherited from both their mother and father were deficient.

Among them were a man, a woman, and their nine children whose mutations resulted in abnormally low levels of triglycerides, likely protecting them against heart disease. This mutation also has been found in the insular Amish community in Lancaster County.

If drug companies could mimic beneficial effects caused by genetic knockouts (not all are beneficial), it could speed up the search for effective treatments, said Danish Saleheen, an assistant professor of epidemiology and biostatistics at Penns Perelman School of Medicine.

Instead of shooting arrows in the dark to find a drug that would be beneficial, we can now make an informed choice about the beneficial and harmful effects of pharmacological inhibition of a wide range of pathways, said Saleheen, one of the lead authors.

The study, published in the journal Nature, was the result of an international collaboration led by Penn, the Center for Non-Communicable Diseases in Pakistan, the Broad Institute, Harvard, and the University of Cambridge in England.

One of the studys two senior authors was Daniel J. Rader, chair of Penns department of genetics.

The mutations identified in the study touch on so much human biology, from breaking down toxins in the lungs to metabolizing glucose, that it will take years to sort out what they all mean. Some of the genetic pathways could inform drug development, while others may simply guide the pursuit of science.

The scientists focused on Pakistan because of its high rate of marriage between first cousins. That means a greater chance that children are born with two identical copies of the same gene.

Geneticists study the Amish for a similar reason. Marriage between cousins is not practiced there, but certain genetic mutations can become concentrated. In Lancaster County, however, the triglyceride-lowering mutation was found in only one copy of the gene, and so levels of the fatty substance were not as low as in the Pakistani family.

In Pakistan, the scientists identified a total of 1,317 genes that were knocked out in at least one person. Some of the knockouts, such as the triglyceride ones, were present in more than one person, leading to the total of more than 1,800 people.

This was not the first study to identify people without functioning copies of a particular gene, but it is the largest to date.

Saleheen, who is from Pakistan, said the results published this week are just the beginning. He and his colleagues plan to test the genomes of 200,000 participants from his native country, potentially identifying up to 8,000 people with knocked-out genes.

Robert M. Plenge, a scientist at the drugmaker Merck & Co., wrote in the same issue of Nature that the effort by Saleheens team is sure to yield results.

Animal studies will still be needed, Plenge wrote, but the study of these human knockouts will change the nature of the scientific investigation of the genetic basis of human disease.

Published: April 13, 2017 10:16 AM EDT

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How 1800 Pakistanis are helping Penn scientists fight disease - Philly.com

Social anxiety is normal for everyone, except when the anxiety begins to interfere with living a happy and healthy life. Social anxiety disorder (SAD), or social phobia, involves intense anxiety or fear about various social situations and is the third-most common mental health problem in the world today after alcoholism and depression.

About 1 in 8 people (12 percent) have suffered from SAD at some time in their lives. In a given year, about 7 out of every 100 (approximately 15 million) people suffer from this disorder.

Avoiding situations that might include being judged by others is a common behavior of those who suffer from SAD. The feelings that accompany this disorder include anxiety, high levels of fear, nervousness, automatic negative emotional cycles, racing heart, blushing, excessive sweating, dry throat and mouth, trembling, and muscle twitches.

In severe situations, people can develop a dysmorphia concerning part of their body (usually the face) in which they perceive themselves irrationally and negatively. People with SAD are often perceived as shy, quiet, backward, withdrawn, inhibited, unfriendly, nervous, aloof and disinterested.

Researchers have thought that social anxiety can be overcome, that cognitive-behavioral therapy literally changes brain circuitry and wiring, and that diligent cognitive-behavioral therapy for SAD will result in brain changes. Supporting this hypothesis, a study in 2013 included brain scan images showing directly where changes were noted in the brain before cognitive-behavioral treatment and after going through cognitive-behavioral treatment.

Medications can only temporarily change brain chemistry, which may be useful in some cases, but these scans showed the change that occurs in the brain as a result of basic cognitive-behavioral treatment intervention. The idea is that the combination of cognitive and behavioral therapy changes the brain, allowing those with SAD to overcome social anxiety.

A new study, however, sheds even more light on this disorder and on a specific serotonin transporter gene called gene SLC6A4, previously implicated in the development of social phobia. The SLC6A4 gene encodes a mechanism in the brain involved in transporting the messenger serotonin, which suppresses feelings of fear and depression and plays an important role in social phobia.

Together with the Clinic and Policlinic for Psychosomatic Medicine and Psychotherapy at the University Hospital Bonn, Dr. Andreas Forstner from the Institute of Human Genetics at the University of Bonn is conducting a study into the genetic causes of social phobia.

The researchers genotyped 321 patients with SAD and 804 controls without social phobia and carried out a single-marker analysis to identify a quantitative association between SAD and avoidance behaviors, focusing on single nucleotide polymorphisms (SNPs), where causes of genetic illnesses often lie. They investigated 24 SNPs thought to be the cause of social phobias and other mental disorders.

The patients provided information about their symptoms, including severity. Blood samples were taken to examine participants' DNA. The initial findings provide evidence that the serotonin transporter gene SLC6A4 is frequently correlated with anxiety-related traits. However, researchers are unclear about whether low levels of serotonin contribute to social anxiety or whether social phobia triggers a decrease in serotonin levels.

Genetic studies in SAD are rare, and only a few candidate genes have been implicated so far. This study is the largest association study probing the cause of social phobias to date. The researchers hope this research will help forge better diagnoses and treatment procedures for SAD.

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Social anxiety disorder: Researchers study genetic causes - MultiBriefs Exclusive (blog)

A DNA expert who was suspended last year from his job as a professor at Florida International University is suing the school, accusing administrators of violating his due process rights and costing him at least $19,000 in expert witness fees.

Martin Tracey taught biology at FIU since the 1970s and has testified for more than 20 years on DNA issues. Last spring, after Tracey said he had evidence numerous students were cheating during exams in his Human Genetics course, some of the students filed complaints accusing Tracey of professional misconduct.

The university sided with the students and suspended Tracey for the fall 2016 semester. He was later suspended for the spring 2017 semester and most recently was told to expect to be fired.

According to the lawsuit, Tracey has lost out on $90,000 in wages and another $19,000 in fees he could have charged as an expert witness. The Broward State Attorneys Office had listed Tracey as an expert in 173 pending cases as of last December.

The lawsuit accuses FIU of failing to give Tracey a fair chance to defend himself against the students' accusations.

I was forbidden from being on campus or communicating with any students, Tracey said in an interview Thursday. Even students who wanted to testify for me, I wasnt allowed to ask them.

Tracey said the cheating students were in a computer chat room during an exam, sharing answers with each other. Some students, when confronted, accepted responsibility and a failing grade for the test, Tracey said. Others said they did nothing wrong and filed grievances against Tracey. Tracey said the school didnt give him detailed information about the allegations.

He was ambushed with the evidence against him at a grievance hearing, said his attorney, Jordan Richards.

A spokeswoman for FIU did not have a comment about the lawsuit on Thursday.

rolmeda@SunSentinel.com, 954-356-4457, Twitter @SSCourts and @rolmeda

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DNA expert sues FIU over suspension - Sun Sentinel