Category Archives: Genetic Medicine

In the last months of his life, Gambhir acknowledged that his own luck had run out. I tell my wife, If I just had more time, I know I could solve this, he told me last fall. I asked him how much time he would need to solve his own cancer case. His answer, fittingly, was decades.

This was not the first time for Gambhir that the gap between his futuristic vision and the present came with tragic personal consequences. When he and I met in November, he wore a thin, red, braided cloth bracelet: the kalava, a symbol of protection in Hinduism. Im not a religious person at all, he said, gazing down at his wrist. Its a connection to my son. In 2015, Sam and Aruna Gambhir lost their only child, 16-year-old Milan, to an aggressive and highly lethal brain tumor called glioblastoma multiforme, one of the many cancers that Gambhir had been studying at the time in his lab.

As the Gambhir family learned afterward, Milans cancer was likely tied to Li-Fraumeni syndrome, a rare, inherited condition caused by a genetic mutation that dramatically raises the risk of many types of cancer. The mutation was passed down from Aruna, who has twice battled breast cancer as a result of the DNA defect. If [Milan] had been born 100 years from now, Gambhir said in a 2018 talk, the tools of precision health would possibly have allowed him to live much, much longer.

In the final months of Milans life, Gambhir confided to family members and close friends that he felt as if his mind had opened. His scientific imagination, already expansive, seemed to stretch even further, with an invigorated sense of purpose. Unlike Milan, Gambhir carried no family history of cancer, so he had no reason to expect that the many productive years he had left in his career would be cut short. I thought we had had enough random bullets with our son, he told me. Still, he said, it had been easier to come to terms with his own untimely diagnosis than with his childs. When your sons life is at stake, its even more than your own life.

Just before Thanksgiving last year, Gambhir learned that the cancer that had been confined to his bone marrow had spread. He was in severe pain. Im back to square one, he told me by phone in December. Just have to bear through it. By January, it was obvious that his cancer had metastasized.

As the coronavirus pandemic seeded itself around the world, Gambhir entered his own medical lockdown, sequestered at home as he cycled over the subsequent months through different chemo regimens, suffering toxic reactions to almost all of them. With Sanjiv, the problem was that he knew too much But he still had hope, Aruna told me in August. He was fighting until the very end.

Early in our conversations, Gambhir admitted that living in the present momentthat earnest cultural clichwas a foreign concept to him. Later in our talks, I mentioned that the idea of time, in all of its dimensions, seemed to course through his work. He agreed. The part that humans cant comprehendand I myself have a difficult time comprehending itis time. We are a tiny speck in this massive universal clock. That enormity, he added, worked against him. Its frustrating, because from the pure scientific-discovery part, you would like to be able to [go] back to that full movie.

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A Medical Revolution Too Late for the Man Who Started It - The Atlantic

Newswise ANN ARBOR, Mich.Chronically ill children with kidney disease may spend more time in the hospital, incur larger health care costs and have a higher risk of death compared to pediatric patients hospitalized for other chronic conditions, a new study suggests.

And one of the biggest drivers of these outcomes, researchers found, was the level of medical complexity the young patients faced. Many children with chronic kidney disease also have multiple other chronic health conditions that adversely impact outcomes, including cardiovascular disease, hypertension, diabetes and difficulties in growth.

Chronic kidney disease is a lifelong health issue that has an outsized burden on childrens lives, says lead author Zubin Modi, M.D., pediatric nephrologist at Michigan Medicine C.S. Mott Childrens Hospital and researcher with at the Susan B. Meister Child Health Evaluation and Research Center (CHEAR.)

We wanted to improve our knowledge of this high risk population in order to better support the needs of chronically ill children with kidney disease. Our findings suggest that these patients have very complex health needs, and we need to determine more effective ways to provide them with the care they need before, during and after hospitalization.

Chronic kidney disease includes long term abnormalities of kidney structure or function that may progress to end-stage kidney disease requiring dialysis or a transplant. Children with the condition are also at risk for acute deteriorations in health secondary to infection, dehydration, and side effects associated with medications.

Researchers analyzed national data during 2006, 2009, 2012, and 2016. Of the 6.5 million national pediatric hospital discharges, nearly 4 % involved children with chronic kidney disease, according to the findings published in the American Journal of Kidney Diseases.

Children with chronic kidney disease spent about 30% longer in the hospital (an average of 2.8 days compared to 1.8 days for those without a chronic kidney disease) with nearly 60% more in hospital expenses ($8,755 per hospitalization compared to $5,016.)

Children with chronic kidney disease were also 50% more likely to die during hospitalization.

Data on in-hospital mortality for children with chronic illnesses is lacking, but we know that hospitalizations with a chronic kidney disease diagnosis have a higher mortality than those with other chronic condition diagnoses with the exception of heart failure, Modi says.

The fact that these children are potentially at higher risk of death while hospitalized should prompt providers to closely evaluate management strategies.

That may mean bringing nephrologists in earlier if they are not already involved in patients care, making sure to avoid medications that could make kidney function worse as well as other steps that will improve care for these patients, Modi notes.

The high health care expenses for hospitalized pediatric patients with end-stage kidney disease, including dialysis, transplantation, and associated complications may be comparable to hospitalized heart failure patients, authors say.

Kidney disease may be associated with more medical complexities, authors say. The causes of chronic kidney disease in children include genetic disorders, congenital anomalies that may be part of a multi-organ system syndrome, and systemic inflammatory disorders. A recent study from the UK reported that adult kidney disease patients also have a greater degree of medical complexity than patients seen by any other specialty.

Chronic kidney disease can be a devastating illness with many long-term consequences, Modi says. Some features of chronic kidney disease that start during childhood will have a significant impact on patients lives through adulthood.

We need further studies to better understand the health care needs and delivery of care to hospitalized children with chronic kidney disease in order to optimize health outcomes.

Chronically ill children with kidney disease may spend more time in the hospital, incur larger health care costs and have a higher risk of death compared to pediatric patients hospitalized for other chronic conditions, a new study suggests.

And one of the biggest drivers of these outcomes, researchers found, was the level of medical complexity the young patients faced. Many children with chronic kidney disease also have multiple other chronic health conditions that adversely impact outcomes, including cardiovascular disease, hypertension, diabetes and difficulties in growth.

Chronic kidney disease is a lifelong health issue that has an outsized burden on childrens lives, says lead author Zubin Modi, M.D., pediatric nephrologist at Michigan Medicine C.S. Mott Childrens Hospital and researcher with at the Susan B. Meister Child Health Evaluation and Research Center (CHEAR.)

We wanted to improve our knowledge of this high risk population in order to better support the needs of chronically ill children with kidney disease. Our findings suggest that these patients have very complex health needs, and we need to determine more effective ways to provide them with the care they need before, during and after hospitalization.

Chronic kidney disease includes long term abnormalities of kidney structure or function that may progress to end-stage kidney disease requiring dialysis or a transplant. Children with the condition are also at risk for acute deteriorations in health secondary to infection, dehydration, and side effects associated with medications.

Researchers analyzed national data during 2006, 2009, 2012, and 2016. Of the 6.5 million national pediatric hospital discharges, nearly 4 % involved children with chronic kidney disease, according to the findings published in the American Journal of Kidney Diseases.

Children with chronic kidney disease spent about 30% longer in the hospital (an average of 2.8 days compared to 1.8 days for those without a chronic kidney disease) with nearly 60% more in hospital expenses ($8,755 per hospitalization compared to $5,016.)

Children with chronic kidney disease were also 50% more likely to die during hospitalization.

Data on in-hospital mortality for children with chronic illnesses is lacking, but we know that hospitalizations with a chronic kidney disease diagnosis have a higher mortality than those with other chronic condition diagnoses with the exception of heart failure, Modi says.

The fact that these children are potentially at higher risk of death while hospitalized should prompt providers to closely evaluate management strategies.

That may mean bringing nephrologists in earlier if they are not already involved in patients care, making sure to avoid medications that could make kidney function worse as well as other steps that will improve care for these patients, Modi notes.

The high health care expenses for hospitalized pediatric patients with end-stage kidney disease, including dialysis, transplantation, and associated complications may be comparable to hospitalized heart failure patients, authors say.

Kidney disease may be associated with more medical complexities, authors say. The causes of chronic kidney disease in children include genetic disorders, congenital anomalies that may be part of a multi-organ system syndrome, and systemic inflammatory disorders. A recent study from the UK reported that adult kidney disease patients also have a greater degree of medical complexity than patients seen by any other specialty.

Chronic kidney disease can be a devastating illness with many long-term consequences, Modi says. Some features of chronic kidney disease that start during childhood will have a significant impact on patients lives through adulthood.

We need further studies to better understand the health care needs and delivery of care to hospitalized children with chronic kidney disease in order to optimize health outcomes.

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Children with Chronic Kidney Disease Have Outsized Health Burden - Newswise

By Deborah Borfitz

October 19, 2020 | The quest to find new medicines for Alzheimers disease (AD) may finally make some headway, thanks to a Target Enablement to Accelerate Therapy Development for Alzheimers Disease (TREAT-AD) project that is taking a high-risk, high-reward approach to diversifying the drug development pipeline, according to Lara Mangravite, president of Sage Bionetworks. The Seattle-based nonprofit is partnered with Emory University and the Structural Genomics Consortium (SGC) on the initiative.

AD is a complex and common disease, affecting 54 million people globally and rising, with a paucity of treatment options, says Mangravite, who spoke on the topic at the recent Bio-IT World Conference & Expo Virtual. Part of the problem is that a handful of hypotheses are getting repeatedly evaluated. Clinical trials for AD are also quite lengthy and expensive because it is such a long progressing disease.

Thanks to the National Institute on Aging (NIA), congressional mandates, private funders, and foundations, there is also a wealth of financial support for AD research that didnt exist a decade ago, she adds. TREAT-AD, with more than $73 million in NIA funding, is endeavoring to cast light on a more varied set of hypotheses where there is currently a dearth of evidence in the literature. A second TREAT-AD research center pairs Indiana University School of Medicine with Purdue University, and the two projects share the funding pot.

Proteomic-based analyses of brain samples from Alzheimers patients suggest a whole series of biological dysregulation is going on, many of which may be useful to examine, Mangravite says. Since only a small fraction of the genetic variants have been identified in prior AD genome-wide association studies (GWAS) conducted around the world, either GWAS needs to be complemented by other approaches or many more people need to be sampled.

Using a multi-omics dataset, the public-private Accelerating Medicines Partnership (AMP) has been finding promising biological targets of diseases, including Alzheimers. In the absence of industry standards, the field has to date found it difficult to achieve consensus across the outputs of different research groups, says Mangravite. But after five years, AMP-AD has nominated a series of hypotheses about what is causal to disease and the list is posted on the Agora websitehosted and maintained by Sage Bionetworks.

Datasets generated by AMP-AD investigators undergo consensus evaluation by all network model algorithms, continues Mangravite. Of the five main areas of biological signaling found to be dysregulated via bioinformatics analysis, two have been previously understudied and are now the teams primary focus.

To catalyze more research in these promising new domains, SGC has created well-validated reagents and made them freely available for use by investigators. The initiative is just getting started, she says. All tools and materials generated by TREAT-AD will be shared without restriction, and no patents will be issued.

The microglial protein called moesin has been associated with neuropathology within the Alzheimers brain, notes Mangravite. Bayesian analysis has identified the key drivers and genetics suggest it is causal for AD.

To prioritize dark targets in an unbiased fashion, the research team has developed a rubric that combines data from different sources to create a novelty score indicating how much a hypothesis has already been studied. That keeps the focus on targets with almost no supportive evidence.

The hypotheses being actively investigated implicate four protein-coding genesVGF, CLU, DNM1 and INPP5for which reagents are now being developed. TREAT-AD is intentionally putting the cart before the horse, says Mangravite. Conventional wisdom says you dont start medicinal chemistry until the target has been validated. We say that having the highest quality tools can help explore therapeutic hypotheses in a realistic context.

Editors Note: Even if you missed the event, the Bio-IT World Conference & Expo virtualis still live. Register nowfor on-demand presentations.

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'High-Risk, High-Reward' Approach To Finding Alzheimer's Disease Treatments - Bio-IT World

Newswise A new study led by scientists at IUPUI and Indiana University Bloomington is the first to describe a biochemical mechanism that increases the activity of a molecule whose presence is observed in many types of cancer.

The molecule, an enzyme called Pif1helicase, plays a role in many important cellular processes in the body. Tightly regulating this protein is vital to genome stability because too little -- or too much -- activity can influence aging and age-related diseases, primarily cancer. A common cancer therapy, HDAC inhibitors, can also trigger a spike in this enzyme.

"Currently, we're giving people drugs that increase Pif activity without fully knowing how it affects other parts of the cell that play a role in genome stability," said Lata Balakrishnan, an associate professor of biology in the School of Science at IUPUI, who is co-lead author on the study.

"HDAC inhibitors upregulate certain tumor-suppression genes, and therefore are used in combination therapies to treat specific cancers, but when it comes to their impact on other parts of the cell, we're basically operating in the dark."

The study's other lead author is Matthew Bochman, an associate professor in the IU Bloomington College of Arts and Sciences' Department of Molecular and Cellular Biochemistry. Other co-authors are Christopher Sausen and Onyekachi E. Ononye, Ph.D. students in Bochman's and Balakrishnan's labs, respectively, at the time of the study.

The mechanism described in the study is the effect of lysine acetylation on Pif1. Lysine acetylation occurs when a small molecule called an acetyl group binds to lysine, an amino acid used to build common proteins in the body. This action transforms lysine from a positively charged molecule to a neutrally charged molecule. This neutralization can impact protein function, protein stability and protein-protein interaction in cells, among other things.

Helicases are known as the genetic "zippers" of cells because they pull apart DNA for the purpose of genetic replication and repair. They also help maintain telomeres, the structure at the end of chromosomes that shorten as people age.

In the new study, the researchers identified lysine acetylation on Pif1 helicase and showed the addition of the acetyl group increases the protein's activity -- as well as its "unzipping" function. They also found that lysine acetylation changes the shape -- or "conformation" -- of the Pif1 protein. They believe that this shape change increases the amount of Pif1 helicase.

"The dynamic interplay of the addition and removal of the acetyl group on lysine regulates a wide variety of proteins within the cell," Balakrishnan said. "Perturbations to this process can play a role in cancer, aging, inflammatory responses and even addiction-related behaviors."

"As a class, helicases are involved in a lot of processes necessary for genome integrity," Bochman added. "Any significant failure in these processes is generally carcinogenic."

The precise details of lysine acetylation in Pif1, its effect of the enzyme's shape and the resulting impact on helicase activity took nearly five years to observe and report. The study, carried out in parallel on two IU campuses, was made possible by the lead scientists' complementary expertise. As a biochemist who has previously studied lysine acetylation in other proteins, Balakrishnan was able to isolate Pif1 in vitro to observe its response to chemical reactions in a test tube. In contrast, as a geneticist working in yeast as a model organism to study Pif1, Bochman was able to modify cells in vivo to watch reactions play out in a living organism.

"The ability to observe these reactions in a living cell is often more relevant, but it's also a lot messier," Balakrishnan said. "Our experiments were constantly informing each other as to where to go next.

Looking to the future, Bochman said intricate knowledge of cellular processes -- such as lysine acetylation -- will increasingly play a role in personalized therapy.

"If you sequence a patient's tumor, you can fine-tune drugs to target very specific enzymes," he said. "Instead of a drug that broadly affects the whole cell, it will be possible to take a targeted approach that reduces potential side effects. This level of personalization is really the future of cancer biology and cancer medicine."

"Lysine Acetylation Regulates the Activity of Nuclear Pif1" is available online in advance of print in the Journal of Biological Chemistry. A perspective article on the work is also forthcoming in the journal Current Genetics.

This work was supported in part by the National Science Foundation and the American Cancer Society.

IU Research

Indiana University's world-class researchers have driven innovation and creative initiatives that matter for 200 years. From curing testicular cancer to collaborating with NASA to search for life on Mars, IU has earned its reputation as a world-class research institution. Supported by $854 million last year from our partners, IU researchers are building collaborations and uncovering new solutions that improve lives in Indiana and around the globe.

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Study reports chemical mechanism that boosts enzyme observed in cancer - Newswise

2020 has been vastly different to that which could have ever been predicted or planned for. Nobody expected that our daily lives would be so dependent on the predictions of epidemiologists or the plethora of political rules. Our best weapon against the spread of COVID-19 is responsible individual and personal behaviour. Our daily choices can and do affect the lives of many families and communities.

What gets measured gets managed is often attributed to Peter Drucker, the management theorist, implying that we cannot manage something if we cannot measure it. We do not know how many people have had a mild form of COVID-19 but not been tested. 10% of those who tested positive have experienced long COVID; 60% of those with long COVID suffer a wide range of symptoms for three months or more afterwards. This debilitating syndrome can stop them from working and leading a normal life.

COVID-19 is a new disease, and we are still learning what needs to be measured to make the right decisions for our economy and the health of our citizens.

Hindsight is a great thing; scientists are revising their models every day and learning from the pattern of new cases in response to the various measures introduced in different countries. We have learned a lot, but there is considerably more learning still to be done much of it in near real time.

In January 2020 the BBC reported: The chief medical officer has revised the risk to the UK population from very low to low and has concluded that while there is an increased likelihood that cases may arise in this country, we are well prepared and well equipped to deal with them.

Nobody envisaged that by the end of September, the number of deaths attributed to COVID-19 would be over 42,000 in the UK, and still rising.

Scientists predicted many would have a minor flu-like illness and be unwell for around a week, but that fewer than 20% of people could have a much more serious illness and require hospital treatment. By October, globally over 38m people are believed to have had COVID-19 and over 1m have died but the exact numbers may never be known as many people with a mild form of the disease may not have been tested. It is estimated the UK total with long COVID is already 60,000.

As yet there is no clinical case definition, GPs do not know how to recognise, diagnose, or treat long COVID. Social media is highlighting the stories of the long haulers and the newspapers and other media are interviewing doctors, professors, and scientists trying to establish what it is and what we can do to diagnose and treat long COVID.

Long terminology here refers to something that lasts over an extended period of time. There is no indication as yet that anyone knows how to conclude long COVID. For a disease that might be over within a week or two, having lingering symptoms that last over six months is considered long. During these months, the symptoms (e.g. debilitating fatigue, poor memory, breathlessness) come and go, and vary in severity and type with people experiencing better days and worse days. We envisage many socio-economic implications in addition to the psychological and mental health impact of long COVID. With lost working time, the cost of long COVID to the UK economy could certainly impose significant financial penalties.

People who had the severe form of COVID-19 will have experienced hospitalisation and perhaps been in intensive care; they will have undergone numerous clinical examinations and clinical tests. They may have post-traumatic stress disorder (PTSD) and their lives may never be the same again.

Those who had the mild form of COVID-19 may never have had these medical tests, but could still go on to have long COVID and may need testing for organ damage and clinical investigations required to explain the debilitating fatigue, cognitive difficulties, and similar symptoms.

Fatigue and breathlessness are probably the most common symptoms but there are many more being reported weekly. For long COVID, there are many reports of gastrointestinal, cardiological, respiratory and neurological symptoms yet chest X-ray, MRI and CT scans may initially look normal or show only slight abnormalities. Many of the major systems of the body can be affected, there may be four distinct syndromes. People commonly report lack of energy and brain fog (difficulties with memory and processing) which make normal life difficult. Accompanying all this is anxiety whether about work and finances or depression caused by deterioration of cognitive functioning. The constant cycle of not knowing when a recovery and a return to normal can be predicted, and then the crushing disappointment when the severest symptoms return, must be exasperating.

People from all professions with long COVID report that they are often unable to carry out the simplest of tasks. Researchers have studied SARS, MERS and CFS (chronic fatigue syndrome) to see what lessons can be learned from recommending rehabilitation. Multidisciplinary teams are needed to ascertain if long COVID can be diagnosed early and treated by the correct specialists; can we stop it from progressing to the chronic condition? Sadly, as more people become infected with COVID-19 we can expect increases in the numbers with long COVID. Can we prevent it becoming post viral syndrome or myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS)?

COVID-19 is new and operates according to its own rules when it invades a human body. We must challenge and test every hypothesis and assumption until we find the answers we need to manage the virus.

Part of the challenge is that our most sensitive clinical tests are expensive and lab-based we also need data from people that relies on self-report; for example fatigue, breathlessness, and brain fog are not yet calibrated on medical devices and need individual experiential reporting. Consumer wearables can detect step count and heart rate and respiratory rate but the practical experiences of palpitations and inability to get out of bed or make a cup of tea are very personal. Eventually we may be able to see and explain the patterns, but first we must focus on measuring, reporting, and analysing them. Understanding long COVID requires more personalised approaches and acceptance of more subjective reports.

Social media is building the evidence today, in real time; people are sharing their daily ups and downs despite sometimes only having the energy to write a few sentences. Perhaps they actually do not have the cognitive strength to cope with traditional research questionnaires and have those questionnaires, the bedrock of gold-plated science, been validated for long COVID? No.

We rely on our researchers to construct new tools to investigate what is happening in real time to understand what the patterns are. How do the symptoms vary with time and how can we relate this to our strong body of existing knowledge of mechanisms and manifestations?

Traditionally, there would be workshops and face-to-face interviews planned and undertaken by researchers but social distancing means we rely more on phone, video consultation, and digital tools. Without these, how do we collect data and address the variation over time and the highly individual nature of the disease and the impact?

To learn in real time while maintaining social distance from thousands of people who can barely get out of bed let alone out of the house, we need tools that can capture meaningful data at a sufficiently granular level and in a time-stamped sequence to be analysed for patterns we need technology.

We must draw on research into personalised/precision medicine and use patient generated health data (PGHD). Precision medicine often refers to genomic studies and targeting drugs more effectively, but more broadly it can be summarised as being about prediction, prevention, personalisation and participation. We need to deploy advanced analytical methods and analyse time series of symptom data. We also need neurolinguistic programming to analyse the subjective experiences of long COVID sufferers with a large variety of backgrounds cultural, genetic, and environmental, for example.

We cannot rule anything out assumptions can be dangerous if not challenged and checked. We should analyse data from consumer wearables and social media and we must also understand the lived experiences of long COVID in a way that can guide care pathways. GPs, and indeed patients, need to know who needs to be investigated for organ damage and who has to stay at home and pace themselves.

We must combine big data with little data (sometimes called small data) to maximise the clinical overview of long COVID. Little data is what we know about ourselves, our choices, and our actions and how those make us feel. With long COVID people are struggling with everyday tasks and have to plan their time to accommodate reduced energy levels and cognitive constraints. People may need to learn to pace themselves better, adopting new habits and patterns. This is exactly where a digital diary (for example TIYGA) which can be analysed for more nuanced effects could be invaluable. Combining such little data (individual level) with big data (population level, stratified by age, gender, ethnicity, lifestyle factors, comorbidities) can illuminate more personalised approaches and be delivered at scale. We must filter out the noise and focus on the patterns to link long COVID to our research clinical evidence of how our bodies are affected and constrained by the virus.

We need to co-produce new solutions; taking a multidisciplinary approach, and utilising technology and patient experience, will enhance our chances of success. COVID-19 feels like a long and winding road; we must combine all relevant knowledge to reach the right destination.

Katrina DelargyTiyga Health

Please note this is a contributor profile

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Long COVID: the long and winding road - Health Europa

A new initiative at University of North Carolina at Chapel Hill is kicking off a genetic study of eating disorders that it says will be the largest of its kind.

If successful, the study, conducted by the Eating Disorders Genetic Initiative (EDGI), will be able to identify hundreds of genes that influence a person's likelihood of suffering from three prominent disorders: anorexia nervosa, bulimia nervosa and binge-eating disorder.

That knowledge could significantly improve the way those illnesses are treated, said Cynthia Bulik, a professor at the UNC School of Medicine and head of EDGI.

"It might help us with prediction and prevention in the future," Bulik said in a phone interview. "That is a direction we hope to go in help us identify those who are high risk."

Eating disorders affect a large number of people. About 9% of Americans, or 28.8 million, will have an eating disorder in their lifetime, according to the National Association of Anorexia Nervosa and Associated Disorders.

And that number could be increasing, as the coronavirus pandemic pushes the country into a mental health crisis as well. Bulik recently coauthored a study of individuals with eating disorders in the U.S. and the Netherlands that reported an increase in anxiety during the pandemic, which has disrupted the lives and routines of millions.

"We are clearly in the midst of a mental health pandemic," Bulik said. "The things (participants) talked about most was the lack of structure in their days ... (and) a lack of social support. Eating disorders thrive in isolation."

While there have been numerous psychiatric studies of eating disorders, the biologic underpinnings of the illness are still relatively unknown, and there are no medications to treat eating disorders

"Part of that is because we haven't understood the biology of eating disorders," she said.

EDGI is seeking 100,000 people across the world with a history of an eating disorder to volunteer as part of the genetic study. In the U.S., it is looking to reach 6,000 participants. In addition to genetics, EDGI will also survey participants from around the world to see how environmental factors influence the disorders.

Bulik said it will be important for EDGI to get a very diverse sample of volunteers. She hopes to complete the collection portion of the study by 2022.

The research is funded by the National Institute of Mental Health. The genetic samples will be collected via a saliva kit in the mail, and then be processed at a lab in Chapel Hill.

The study will build off a previous one that focused specifically on anorexia nervosa. Bulik said that study had transformational findings, identifying eight areas of the genome with significant associations with anorexia nervosa. Finding evidence for those associations, she said, helps reduce misunderstandings around the illness.

"These are serious illnesses with genetic bases, and we need to bust those myths about them being a choice," Bulik said. "One of the things that this research does is bust those myths. We can say with complete confidence that genes are involved."

That previous research only studied around 17,000 participants, and Bulik said the data would be much more reliable with a larger pool of volunteers.

By expanding the research to include other eating disorders, EDGI could determine if certain genetics predispose someone to multiple illnesses, or whether they all have unique causes.

"My gut says and preliminary information shows that there might be some shared genetic factors across all three disorders, but also unique genetic factors associated with them that decides the path (of treatment) you go down," she said. "There is not a clear demarcation between these disorders. People will toggle back and forth between anorexia and bulimia. They are not mutually exclusive."

EDGI is looking for participants who are 18 years or over and have, at any point in their lives, experienced anorexia nervosa, bulimia nervosa or binge-eating disorder. To volunteer or learn more, visit http://www.edgi.org.

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University is mapping the genetics of eating disorders to develop better treatments - yoursun.com