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Category Archives: Genetic Medicine

Genetic study of Lewy body dementia supports ties to Alzheimer’s and Parkinson’s diseases – National Institutes of Health

News Release

Tuesday, February 16, 2021

NIH-led study locates five genes that may play a critical role in Lewy body dementia.

In a study led by National Institutes of Health researchers, scientists found that five genes may play a critical role in determining whether a person will suffer from Lewy body dementia, a devastating disorder that riddles the brain with clumps of abnormal protein deposits called Lewy bodies. Lewy bodies are also a hallmark of Parkinsons disease. The results, published in Nature Genetics, not only supported the diseases ties to Parkinsons disease but also suggested that people who have Lewy body dementia may share similar genetic profiles to those who have Alzheimers disease.

Lewy body dementia is a devastating brain disorder for which we have no effective treatments. Patients often appear to suffer the worst of both Alzheimers and Parkinsons diseases. Our results support the idea that this may be because Lewy body dementia is caused by a spectrum of problems that can be seen in both disorders, said Sonja Scholz, M.D., Ph.D., investigator at the NIHs National Institute of Neurological Disorders and Stroke (NINDS) and the senior author of the study. We hope that these results will act as a blueprint for understanding the disease and developing new treatments.

The study was led by Dr. Scholzs team and researchers in the lab of Bryan J. Traynor, M.D., Ph.D., senior investigator at the NIHs National Institute on Aging (NIA).

Lewy body dementia usually affects people over 65 years old. Early signs of the disease include hallucinations, mood swings, and problems with thinking, movements, and sleep. Patients who initially have cognitive and behavioral problems are usually diagnosed as having dementia with Lewy bodies, but are sometimes mistakenly diagnosed with Alzheimers disease. Alternatively, many patients, that are initially diagnosed with Parkinsons disease, may eventually have difficulties with thinking and mood caused by Lewy body dementia. In both cases, as the disease worsens, patients become severely disabled and may die within eight years of diagnosis.

A growing body of evidence suggests genetics may play a role in the disorder and that some cases may be inherited. Scientists have found that some of these rare cases can be caused by mutations in the gene for alpha-synuclein (SNCA), the main protein found in Lewy bodies. Further studies have found that variants in the gene for apolipoprotein E (APOE), which is known to play a role in Alzheimers disease, may also play one in Lewy body dementia.

Compared to other neurodegenerative disorders, very little is known about the genetic forces behind Lewy body dementia, said Dr. Traynor. To get a better understanding we wanted to study the genetic architecture of Lewy body dementia.

To do this, they compared the chromosomal DNA sequences of 2,981 Lewy body dementia patients with those of 4,931 healthy, age-matched control participants. Samples were collected from participants of European ancestry at 44 sites: 17 in Europe and 27 across North America. The DNA sequencing was led by Clifton Dalgard, Ph.D., and researchers at The American Genome Center, a series of state-of-the-art laboratories at the Uniformed Services University of the Health Sciences and supported by the Henry M. Jackson Foundation for the Advancement of Military Medicine.

Initially, they found that the sequences of five genes from the Lewy body dementia patients were often different from those of the controls, suggesting that these genes may be important. It was the first time that two of the genes, called BIN1 and TMEM175, had been implicated in the disease. These genes may also have ties to Alzheimers and Parkinsons diseases. The other three genes, SNCA, APOE, and GBA, had been implicated in previous studies, and thus, strengthened the importance of the genes in Lewy body dementia.

The researchers also saw differences in the same five genes when they compared the DNA sequences of another 970 Lewy body dementia patients with a new set of 8,928 control subjects, confirming their initial results.

Further analysis suggested that changes in the activity of these genes may lead to dementia and that the GBA gene may have a particularly strong influence on the disease. The gene encodes instructions for beta-glucosylceramidase, a protein that helps a cells recycling system break down sugary fats. The researchers found that both common and rare variants in the GBA gene are tied to Lewy body dementia.

These results provide a list of five genes that we strongly suspect play a role in Lewy body dementia, said Dr. Traynor.

Finally, to examine the apparent links between Lewy body dementia and other neurodegenerative diseases, the researchers further analyzed data from previous studies on Alzheimers and Parkinsons disease. They found that the genetic profiles of the patients in this study had higher chances of suffering from either Alzheimers or Parkinsons disease than the age-matched control subjects. These predictions held even after they lowered the potential impact of known Alzheimers and Parkinsons disease-causing genes, like APOE and SNCA. Interestingly, the patients genetic risk profiles for Alzheimers disease, on the one hand, or Parkinsons disease, on the other, did not overlap.

Although Alzheimers and Parkinsons disease are molecularly and clinically very different disorders, our results support the idea that the problems that cause those diseases may also happen in Lewy body dementia, said Dr. Scholz. The challenge we face in treating these patients is determining which specific problems are causing the dementia. We hope studies like this one will help doctors find precise treatments for each patients condition.

To help with this effort, the team published the genome sequence data from the study on the database of Genotypes and Phenotypes (dbGaP), a National Library of Medicine website that researchers can freely search for new insights into the causes of Lewy body dementia and other disorders.


Chia, R., et al. Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into the complex genetic architecture. Nature Genetics, February 15, 2021 DOI: 10.1038/s41588-021-00785-3

This study was supported in part by the NIH Intramural Research Programs at the National Institute of Neurological Disorders and Stroke (NS003154) and the National Institute on Aging (AG000935).

NINDS ( is the nations leading funder of research on the brain and nervous system.The mission of NINDS is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease.

About the National Institute on Aging (NIA): NIA leads the U.S. federal government effort to conduct and support research on aging and the health and well-being of older people. Visit the NIA website for information about a range of aging topics inEnglishandSpanish. Learn more about age-related cognitive change and neurodegenerative diseases via its Alzheimer's and related Dementias Education and Referral (ADEAR) Center website. Stay connected with NIA!

About the National Institutes of Health (NIH):NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit

NIHTurning Discovery Into Health


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Aldevron expands manufacturing capabilities in Madison – University of Wisconsin-Madison

Part of Aldevrons expansion is a fermentation suite that will allow the company to expand its projects scope and scale. Submitted photo

From February through June, we will highlight the ways that UWMadison powers the states economy through research and innovation, educates the next generation and reaches out to Wisconsinites to improve their lives. Februarys theme is Economic Prosperity. Watch for more at #CantStopABadger and #UWimpact on social media.Your supportcan help us continue this work.

February 10, Aldevron hosted a virtual celebration of its lab facility expansion in Madison.

Aldevron produces the raw materials that allow clients to make groundbreaking therapies, and its protein business unit has operated within University Research Park since 2009. The facilitys growth from 8,000 to nearly 30,000 square feet includes a new 3,500-square-foot fermentation suite and will allow the company to expand its projects scope and scale.

Aldevron founders John Ballantyne and Michael Chambers partnered with Tom Foti to establish the companys protein business unit in Madison in 2009 to expand Aldevrons offerings.

Madison is rightly known around the world as a biotech hotspot, and the fact that there was a team out there ready to hit the ground running made it sort of a no-brainer, said Ballantyne, who serves as Aldevrons Chief Science Officer.

Speakers at the celebration pointed out that Aldevrons partnerships with UWMadison in research and education benefit both the company and the university.

I watched Aldevron partner with researchers at the University of WisconsinMadison, with other companies at the Park, and with partners all over the globe, and its these partnerships that are at the very center of Aldevrons business model, said Aaron Olver, the Managing Director of University Research Park, a UWMadison-affiliated nonprofit that creates neighborhoods where innovation can flourish. So with the newly expanded capacity at the Park, I know Aldevrons going to be able to find new partnerships and new opportunities, to push the boundaries of science even further.

Ballantyne envisions the Madison team continuing their collaborations with researchers and also expanding into RNP capabilities for gene editing and IVT enzymes. He praised the teams reputation and ability to transition new products into a manufacturing environment, saying theres an art to that tech transfer.

A lot of rigor goes into building our systems, especially with the complexity of protein, he said. Its very exciting what their ramp-up is going to look like out there.

The University of Wisconsin has created a dynamic hub of biotech companies, based on its amazing research companies and abundance of trained talent, said Aldevron CEO Kevin Ballinger, citing Aldevrons partnership with UWMadison as a compelling reason the company has continued to invest in its Madison site.

We made the investment ten years ago and doubled down on this site because we see the incredible return and endless possibilities in the following areas: scientific collaboration around gene editing, a supply chain for cell therapy manufacturing, partnership on workforce development, and talent recruitment to help staff our growing team.

The University of Wisconsin has created a dynamic hub of biotech companies, based on its amazing research companies and abundance of trained talent. Aldevron CEO Kevin Ballinger

Aldevrons Madison team makes CRISPR proteins like Cas9 that are essential to the field of gene editing and its potential to treat thousands of previously untreatable medical conditions. Aldevron Madison also makes the IVT enzymes for research use that support mRNA technology. Later this year, Aldevron will be making GMP IVT enzymes for clinical applications, all of which will be supported by the companys pending ISO1345:2016 registration. The company is currently pursuing ISO 1345:2016, a standard for FDA compliance.

Aldevrons RNP services turn CRISPR reagents into therapies, and by the middle of this year, well be the only company to launch a RNP manufacturing service to provide GMP reagents to clients developing gene therapies, says Ballinger.

Tom Foti, President of Aldevrons protein business unit since its 2009 Madison launch, said he will likely increase his staff by about 40% with the facilities expansion.

Diversity is super important in high-performing teams, said Foti. We are investing in talent to build a strong culture centered around problem-solving and continuous improvement.

Both Foti and Katie Rogers, Aldevrons Senior Manager of Upstream Processing, described the expanded main lab area and vibrant communal spaces bathed in natural light.

More scientists and equipment mean Aldevron can serve more clients, said Rogers.

Local expansion partners include companies based in the Madison area: J.H. Findorff & Son Inc.; Strang, Inc.; M&M Office Interiors; Fearings Audio Video Security; Capitol Mechanical; Faith Technologies; Livesey Painting, Inc.; Lake City Glass; Monona Plumbing and Fire Protection; Sergenians Floor Coverings; and Badger Acoustics, Inc.; as well as Wausau-based Graphic House.

Dr. Richard Moss, Senior Associate Dean for Basic Research, Biotechnology and Graduate Studies at the University of WisconsinMadison School of Medicine and Public Health, emphasized the strength of Aldevrons collaboration with UWMadison.

Our relationship with Aldevron over time has evolved into a partnership that is not only collaborative but very effective, said Moss. Ongoing conversations between UW and Aldevron are really focused on expanding learning opportunities for students at the UW in the health professions.

Aldevron supports UWMadisons Masters program in biotechnology, offering real-world educational opportunities for students in the program and for graduate students and postdocs across campus. UWMadisons Department of Industrial Engineering has collaborated with Aldevrons quick response manufacturing team on biological manufacturing processes, and Aldevron has partnered with professor Kris Saha in the Department of Biomedical Engineering on gene editing approaches to genetic medicine.

We hope we will be able to expand our partnership in the near future to our program in advanced cellular therapies, with the idea of moving these new therapies to cell therapy manufacturing, said Moss. We see these partnerships as a win for translating discoveries from the bench to the bedside. Its a win for learners; its a win for researchers; and most importantly, its a win for advancing the health of the patients in the communities that all of us serve.

UW-Madison contributes $20.8 billion per year to the Wisconsin economy, and UWMadison related start-ups contribute an additional $10 billion. Read morehere.

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Where Will Editas Medicine Be in 5 Years? – Motley Fool

CRISPR gene-editing technology has been described as a modified protein that acts as pair of scissors to snip parts of DNA to target parts of a specific gene, or gene mutation. To work the metaphor further, Editas Medicine (NASDAQ:EDIT) is on the cutting edge of CRISPR.

The company's stock has climbed more than 114% in the past year, even though it doesn't yet have a marketable therapy. That's because CRISPR is considered the next big thing. Imagine therapies that don't just treat diseases, but cure them, with a single dose, by instructing the body to turn off targeted defective DNA. One study in the journal Nature said CRISPR technology could cure up to 89% of all genetic birth defects.

That's the dream, at least. The reality is that the technique is very much in its infancy, and to date, no CRISPR therapy has been approved for use by the U.S. Food and Drug Administration (FDA). So where does Editas Medicine sit in this exciting field of genetics play?


Editas doesn't yet have any drugs in advanced trials, doesn't turn a profit, and what little revenue it does make is from collaboration efforts with other pharmaceutical companies. What it does have, according to the company, is enough cash (at $541 million), with no debt, to last it until 2023.

That gets back to the question -- where will Editas be in five years?

Although we lack a crystal ball, we know it can take as many as 15 years for a drug to go through clinical trials before it becomes a marketable therapy. Editas' two most promising candidates are still in early stage trials.If either is approved, it would be a huge moment, not just for Editas, but for either of its main competitors, CRISPR Therapeutics and Intellia Therapeutics. All three companies went public in 2016 and are working to find therapies using CRISPR editing.

The reason why CRISPR is the current technology of choice is that there are at least 10,000 diseases caused by a single genetic mutation. CRISPR technology has the potential to treat and possibly cure those diseases, including some of the more common ones, such as hemophilia, genetic blindness, cystic fibrosis, Huntington's disease and Duchenne's muscular dystrophy. One study, using data from the National Center for Health Statistics found that, from 1979 through 1992, 320,208 deaths in the United States alone were associated with birth defects and genetic diseases.

Last month, the FDA gave approval for Editas to begin a phase 1/2 study by dosing sickle cell disease (SCD) patients with EDIT-301, an ex vivo gene-editing cell medicine. Ex vivo refers to the process of taking cells out of a body, manipulating them, and then resubmitting them.

SCD is inherited and it leads to an accumulation of hemoglobin S, abnormally shaped red blood cells that can clog blood vessels and cause tremendous pain. According to the Centers for Disease Control and Prevention (CDC), SCD affects roughly 100,000 people in the United States, and occurs in 1 of every 365 black births in the U.S.. The company is also looking at EDIT-301 as a treatment for beta-thalassemia, an inherited blood disorder through which the production of hemoglobin in the blood is limited.

At present, there's only one cure for SCD -- a bone marrow transplant. The problem is, bone marrow transplants are expensive and dangerous, and require bone marrow from a closely matched donor without the disease, such as a sibling. Only 2% of the U.S. population is on the bone marrow registry and many minority groups are underrepresented in the registry.

The company's other candidate in trials is EDIT-101, which may be used to treat Leber congenital amaurosis 10, the most common cause of inherited childhood blindness. The company began a phase 1/2 trial with EDIT-101 last March, targeting mutations in the centrosomal protein (CEP) 290 gene. The company said subjects are given a dose of EDIT-101 with a sub-retinal injection, with the intention of removing the CEP290 mutation, restoring normal photoreceptor function and vision. Editas said it plans to present clinical data on the EDIT-101 trial by the end of the year.

Jennifer Doudna, a biochemist at UC Berkeley, and Emmanuelle Charpentier, now with the Max Planck Institute for Infection Biology, received the Nobel Prize in Chemistry last year for their work on CRISPR gene-editing technology.

The pair are currently embroiled in a patent fight over the discovery with Editas and other companies. The latest round of the battle went against the Nobel winners, with the Patent Trial and Appeal Board (PTAB) saying in September that the plaintiffs on Editas' side had priority in its already granted patents for uses of the CRISPR system in eukaryotic cells, which is any cell that has a clearly defined nucleus.

The decision isn't final, however, and until the matter is, it could impede CRISPR innovation.

The other concern for Editas is that it isn't as strong a financial shape as its top competitor, CRISPR, which had more than $1 billion in cash in his last quarterly report and is further advanced, with four therapies in clinical trials.

EDIT data by YCharts

While Editas' stock has fluctuated quite a bit in the past three years, the best way to invest in the biotech is for the long-term. There's plenty of risk. There are concerns over the safety of gene editing and whether the solutions will in fact last. However, the upside is so great, it makes sense to invest in one of the three main gene-editing biotech companies.

If you do, you won't be alone. Ark Investment Management, an early investor in Tesla, Square, and Roku, owns $299 million worth of the Editas stock, along with of $707 million of CRISPR Therapeutics stock.

No one knows exactly where the stock will be in five years, but Editas' potential could be transformative in the industry -- and that's the best reason to buy and hold it for the long run.

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Its all in the genes – The New Indian Express

By Express News Service

CHENNAI: As parents, we take several precautionary steps to ensure that our little one is safe and healthy. While parents of this generation go above and beyond to educate themselves about various medical frontiers to secure the future of their child, there are still a few areas that remain grey. One of them being the importance of genetic testing and its role in treating childhood on-set disorders.

In urban areas, congenital malformations and genetic disorders are the third most common cause of mortality in newborns. With a very large population and high birth rate, and consanguineous marriage (marriage between close relatives) favoured in many communities, prevalence of genetic disorders is high in India. Dr Prakash Gambhir, chief medical scientist, LifeCell, lists five key points about genetic testing to help parents provide a healthy future for their child.

What is genetic disorder?Genetic disorder is any disease caused by a change in the DNA sequence either in parts or whole. Some people carry genes of genetic illnesses and might not show any signs themselves. Symptoms are caused only if two of the problem gene are inherited. In the case of babies with genetic disorders, a problematic gene is passed onto the baby by each parent. Some of the common genetic disorders among children are thalassemia, sickle cell disease, cystic fibrosis, spinal muscular atrophy, fragileX, hemophilia, and autism.

What is genetic testing?It is a simple blood test that examines your DNA to check for alterations in your genes that may lead to illnesses. The test can help doctors identify defective genes and recommend diagnosis/treatment effectively.

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Novartis and the Bill & Melinda Gates Foundation collaborate to discover and develop an accessible in vivo gene therapy for sickle cell disease -…

Basel, February 17, 2021 Novartis today announced that it has entered into a grant agreement with the Bill & Melinda Gates Foundation. As part of the agreement, the foundation will provide funding support for the discovery and development of a single-administration, in vivo gene therapy to cure sickle cell disease (SCD). The project brings together Novartis drug discovery and gene therapy expertise with the Gates Foundations charitable objectives to expand access to healthcare in low-resource settings in an effort to address this potentially life-threatening genetic disease.

Existing gene therapy approaches to sickle cell disease are difficult to deliver at scale and there are obstacles to reaching the vast majority of those affected by this debilitating disease, said Jay Bradner, a hematologist and President of the Novartis Institutes for BioMedical Research (NIBR). This is a challenge that calls for collective action, and we are thrilled to have the support of the Bill & Melinda Gates Foundation in addressing this global unmet medical need.

SCD is a hereditary blood diseaseone of the oldest known and most common genetic disorders. The disease affects millions around the world, with over 300,000 born with the condition annually1,2. It disproportionately affects those of African descent, and sub-Saharan Africa bears roughly 80 percent of the disease burden3. It also is common among people with ancestry from South America, Central America, and India, as well as several Mediterranean countries, such as Italy and Turkey.

SCD is a complex genetic disorder that affects the structure and function of hemoglobin, reduces the ability of red blood cells to transport oxygen efficiently and, early on, progresses to a chronic vascular disease1,4,5,6. The disease can lead to acute episodes of pain known as sickle cell pain crises, or vaso-occlusive crises, as well as life-threatening complications7,8,9. The resulting, frequent hospitalizations associated with sickle cell disease combined with an overall lack of specialized care places a significant burden on patients and their families, healthcare systems, and the overall economy. Even with todays best available care, SCD continues to drive premature deaths and disability.

While the genetic cause of SCD has been known for decades, its only recently that the medical world has gained the tools to potentially fix the errant gene that causes the disease. Current clinical-stage gene-based therapies require extracting cells from a patient, altering those cells in a laboratory, and then reintroducing them to the patient through a complex procedure akin to a bone marrow transplant. The lab and manufacturing facilities and hospital infrastructure for such procedures often do not exist in the areas where SCD is most prevalent, excluding the vast majority of those with the disease from these life-changing gene therapies.

Gene therapies might help end the threat of diseases like sickle cell, but only if we can make them far more affordable and practical for low-resource settings, said Trevor Mundel, President of Global Health at the Gates Foundation. Whats exciting about this project is that it brings ambitious science to bear on that challenge. Its about treating the needs of people in lower-income countries as a driver of scientific and medical progress, not an afterthought. It also holds the promise of applying lessons learned to help develop potentially curative options for other debilitating diseases affecting low-income populations, such as HIV.

Novartis envisions developing an accessible in vivo gene therapy for SCD that could potentially be administered once, directly to the patient, without the need to modify the cells in a lab. This would have the advantage of mitigating the need for long or repeated hospital stays or specialized lab infrastructure. To facilitate the research, the Gates Foundation has agreed to provide funding support for a research team within NIBR wholly dedicated to developing an approach to delivering this potential treatment. Novartis will provide in-kind support and access to its suite of technologies and resources.

In addition to research funding, the Gates Foundation lends its long history and experience in global health to this collaboration. As part of the early drug design strategy, Novartis will prioritize addressing access and distribution hurdles posed by limited healthcare infrastructure in low- and middle-income countries and the funding agreement includes specific provisions to support global access to any resulting innovations.

Novartis is proud to lead this effort to find an accessible genetic therapy for sickle cell disease, with support from the Bill & Melinda Gates Foundation, said Lutz Hegemann, Group Head of Corporate Affairs & Global Health for Novartis. In keeping with our purpose, we firmly believe we can use science and innovation to reimagine the way SCD is treated for patients around the world.

The agreement builds on the Novartis commitment to improve the lives of patients with sickle cell disease through the development of new treatments, including crizanlizumab, strategic partnerships with government and non-government organizations, and support for such interventions as newborn screenings and the distribution of existing drugs.

DisclaimerThis press release contains forward-looking statements within the meaning of the United States Private Securities Litigation Reform Act of 1995. Forward-looking statements can generally be identified by words such as potential, potentially, can, will, could, would, believe, commitment, pipeline, to discover, aims, to address, promise, envisions, to facilitate, to provide, lead, or similar terms, or by express or implied discussions regarding potential marketing approvals, new indications or labeling for the investigational or approved products described in this press release, including crizanlizumab, or regarding the collaboration to discover and develop an accessible in vivo gene therapy for sickle cell disease. You should not place undue reliance on these statements. Such forward-looking statements are based on our current beliefs and expectations regarding future events, and are subject to significant known and unknown risks and uncertainties. Should one or more of these risks or uncertainties materialize, or should underlying assumptions prove incorrect, actual results may vary materially from those set forth in the forward-looking statements. There can be no guarantee that the investigational or approved products described in this press release, including crizanlizumab, will be submitted or approved for sale or for any additional indications or labeling in any market, or at any particular time. Nor can there be any guarantee that the activities and efforts described in this release will be achieved or succeed, in the expected time frame, or at all. In particular, our expectations regarding such products and efforts could be affected by, among other things, the uncertainties inherent in research and development, including clinical trial results and additional analysis of existing clinical data; regulatory actions or delays or government regulation generally; global trends toward health care cost containment, including government, payor and general public pricing and reimbursement pressures and requirements for increased pricing transparency; our ability to obtain or maintain proprietary intellectual property protection; the particular prescribing preferences of physicians and patients; general political, economic and business conditions, including the effects of and efforts to mitigate pandemic diseases such as COVID-19; safety, quality, data integrity or manufacturing issues; potential or actual data security and data privacy breaches, or disruptions of our information technology systems, and other risks and factors referred to in Novartis AGs current Form 20-F on file with the US Securities and Exchange Commission. Novartis is providing the information in this press release as of this date and does not undertake any obligation to update any forward-looking statements contained in this press release as a result of new information, future events or otherwise.

About NovartisNovartis is reimagining medicine to improve and extend peoples lives. As a leading global medicines company, we use innovative science and digital technologies to create transformative treatments in areas of great medical need. In our quest to find new medicines, we consistently rank among the worlds top companies investing in research and development. Novartis products reach nearly 800 million people globally and we are finding innovative ways to expand access to our latest treatments. About 110,000 people of more than 140 nationalities work at Novartis around the world. Find out more at

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Genetic ancestry linked to diabetes, heart failure and obesity among Native Hawaiians | Keck School of Medicine of USC – USC News

First-ever large-scale genetic study examining Hawaiian Polynesians and health risk is led by the Keck School of Medicine of USC


By Wayne Lewis

With advances in analyzing human DNA, some well-studied populations have benefited from insights about how their health is affected by their genetics. Others, however, have been left behind. Among them are people of Polynesian descent from Hawaii.

Although population studies of Native Hawaiians have shown a substantial increase in risk for obesity, type2 diabetes, heart disease and certain cancers compared to their neighbors of European and Asian descent, there has been little to no insight into how genetics contribute on top of environmental factors to influence these disparities.

In an attempt to begin rectifying that gap, a USC-led research team has conducted the first study to systematically investigate the genomes of Native Hawaiians and test the components for health risks associated with genetic ancestry. The findings, which appeared in the journal PLoS Genetics, show that, for example, Polynesian ancestry in Native Hawaiians is linked to increased risk of diabetes, heart failure and higher body-mass index, a measure of body fat.

(Charleston Chiang. USC Photo/Ricardo Carrasco III)

Native Hawaiians really have been understudied from a genetic perspective, said corresponding author Charleston Chiang, PhD, an assistant professor of preventive medicine at the Keck School of Medicine of USC and of quantitative and computational biology at USC Dornsife College. Health disparities are a major research emphasis at USC in general, and my team focuses on looking at the genetic component of health risk within geographically diverse populations.

Characterizing Hawaiian Polynesian genetics to understand health risk

Chiang and his colleagues correlated health data (from questionnaire, laboratory measurements, and hospital Medicare claims) and the genetics of 3,940 people who identify as Native Hawaiian from the Multiethnic Cohort Study, a joint project of USC and the University of Hawaii. The research team found that for each 10% increase in estimated Polynesian ancestry, there is on average an 11% increase in risk of heart failure, an 8.6% increase in risk of type2 diabetes and a 0.35 unit increase in body-mass index.

Further studies may be able to identify genetic variants and underlying biological factors specific to Polynesian populations, knowledge that could help reduce these health risks. Chiang also hopes to test a hypothesis outlining a combination of nature and nurture.

For example, its possible that Native Hawaiians had adapted to a traditional diet, and the introduction of the Western diet has led to all kinds of health problems, he said. Thats actually an interaction between their genetics and their environment.

There was a unique challenge for the studys authors to overcome: Researchers focusing on the genetics of people with roots in Europe, Africa and Asia are able to call upon publicly available genomic references for those populations. No such resource exists for Polynesian ancestry. Native Hawaiians are characterized by a mixture of Polynesian, Asian, European and African ancestry. Using the existing references from other populations to run two analyses, the scientists searched for known origins as reflected both across each participants entire genome and location by location along their chromosomes. The research team essentially constructed a genomic model for Polynesian ancestry among Native Hawaiians by identifying a subsample of roughly 150 participants with the least amount of external heritance.

Genomics cant define ethnicity, and biology is not destiny

As should be expected with research charting new territory in biomedical science, the studys authors urge that their findings be interpreted with care and clarity on a few fronts.

Chiang pointed out that race and ethnicity are socially constructed concepts, and distinct from the issues explored in this study that is how certain genes shared among a population contribute to specific health metrics and outcomes. Ethnicity instead is, and should be, defined by genealogical records or how a person self-identifies.

Geneticists should not try to quantize a persons ancestry and use that to define whether that person belongs to a particular ethnic group, he said. While we needed to quantify the proportion of Polynesian ancestry in order to perform our research, we do not want to give the impression that this is a way for people to define their membership in the community based on some arbitrary threshold.

Additionally, Chiang emphasized that the model for Polynesian heritance among Native Hawaiians does not necessarily apply perfectly to populations in other islands such as Samoa.

Perhaps most important, the links between genetics and health revealed in this study should not be construed to mean that being part of any particular population automatically relegates a person to poor health in and of itself.

Genetics is a window into understanding the biology behind these diseases, Chiang said. Genetics does not determine everything, and it doesnt necessarily even amount to the majority of the disparity in risk. I want people to know there are modifiable components to your lifestyle, such as a healthy diet and regular hula dancing, that will absolutely help.

About the studies

The studys co-first authors are Hanxiao Sun, a former masters student in Chiangs research group, and Meng Lin, a former postdoctoral researcher in the group. Other authors are Tsz Fung Chan, Bryan Dinh and Christopher Haiman of USC; Emily Russell and Ryan Minster of the University of Pittsburgh; Take Naseri of the Government of Samoas Ministry of Health; Muagututia Sefuiva Reupena of Lutia i Puava ae Mapu i Fagalele, a nongovernmental organization based in Samoa; Annette Lum-Jones, Lynne Wilkens and Loc Le Marchand of the University of Hawaii; the Samoan Obesity, Lifestyle, and Genetic Adaptations Study Group; and Iona Cheng of the University of California, San Francisco.

The study was supported by the National Cancer Institute (U01CA164973, P01CA168530) and the National Human Genome Research Institute (U01HG007397).

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