Mount Sinai researchers develop novel method to improve disease prediction across diverse ancestries

Statistical technique enhances genetic disease prediction in non-European populations, addressing health care equity

2023-12-20

(Press-News.org)

A team of scientists from Icahn School of Medicine at Mount Sinai has developed a groundbreaking statistical technique, “BridgePRS,” to enhance disease prediction in people of non-European ancestry, particularly those of African descent. This development represents a substantial step towards reducing health care inequities and a future of more personalized and precise medical interventions based on genetic information. Details of their work were published in Nature Genetics on Wednesday, December 20.

Current polygenic risk scores (PRS), essential tools for predicting disease risk encoded in our DNA, are predominantly based on genetic data from individuals of European ancestry. This bias makes them less accurate for people of African or Asian ancestry, exacerbating health care inequity among different ethnic groups.

The researchers embarked on this study to improve disease prediction from genetics in non-European individuals. A key goal of personalized medicine is disease prevention, yet current PRS are weak predictors, especially in non-European populations.

“While we need more genetic data from diverse ancestries, our method combines existing data to help maximize disease prediction across all people,” explained Clive Hoggart, Ph.D., Assistant Professor of Genetics and Genomic Sciences and lead author of the paper. “The biology causing diseases is remarkably similar across ancestries, enabling this advancement.”

“We hope that our method opens up scientific investigation of disease risk in diverse populations worldwide,” stated Paul O’Reilly, Ph.D., Associate Professor of Genetics and Genomic Sciences and senior author. “Disease prevalence and the importance of different biological pathways can vary globally. Understanding these differences is crucial for advancing disease prediction and treatment.”

The field of optimizing disease prediction through PRS Is highly competitive, fostering rapid advancements. Dr. O’Reilly notes, “Our BridgePRS method is particularly promising for predicting disease in individuals of African ancestry, a group with rich genetic diversity that can offer novel insights into human diseases.”

While recognizing the potential of genetics and DNA in predicting future disease and the role of PRS in precision medicine, it’s vital to understand that the biology causing diseases does not differ significantly across ancestry groups or races.

The paper is titled “BridgePRS leverages shared genetic effects across ancestries to increase polygenic risk score portability.”

The remaining authors, all with Icahn Mount Sinai except where indicated, are Shing Wan Choi, Ph.D. (Regeneron Genetics Center), Judit García-González, Ph.D., Tade Souaiaia, Ph.D. (Suny Downstate Health Sciences), and Michael Preuss, Ph.D.

The study was funded by grant number R01MH122866 from the National Institute of Mental Health and grant number R01HG012773 from the National Human Genome Research Institute.

-####-

About the Icahn School of Medicine at Mount Sinai
The Icahn School of Medicine at Mount Sinai is internationally renowned for its outstanding research, educational, and clinical care programs. It is the sole academic partner for the eight- member hospitals* of the Mount Sinai Health System, one of the largest academic health systems in the United States, providing care to a large and diverse patient population.

Ranked 14th nationwide in National Institutes of Health (NIH) funding and among the 99th percentile in research dollars per investigator according to the Association of American Medical Colleges, Icahn Mount Sinai has a talented, productive, and successful faculty. More than 3,000 full-time scientists, educators, and clinicians work within and across 44 academic departments and 36 multidisciplinary institutes, a structure that facilitates tremendous collaboration and synergy. Our emphasis on translational research and therapeutics is evident in such diverse areas as genomics/big data, virology, neuroscience, cardiology, geriatrics, as well as gastrointestinal and liver diseases.

Icahn Mount Sinai offers highly competitive MD, PhD, and Master’s degree programs, with current enrollment of approximately 1,300 students. It has the largest graduate medical education program in the country, with more than 2,000 clinical residents and fellows training throughout the Health System. In addition, more than 550 postdoctoral research fellows are in training within the Health System.

A culture of innovation and discovery permeates every Icahn Mount Sinai program. Mount Sinai’s technology transfer office, one of the largest in the country, partners with faculty and trainees to pursue optimal commercialization of intellectual property to ensure that Mount Sinai discoveries and innovations translate into healthcare products and services that benefit the public.

Icahn Mount Sinai’s commitment to breakthrough science and clinical care is enhanced by academic affiliations that supplement and complement the School’s programs.

Through the Mount Sinai Innovation Partners (MSIP), the Health System facilitates the real-world application and commercialization of medical breakthroughs made at Mount Sinai. Additionally, MSIP develops research partnerships with industry leaders such as Merck & Co., AstraZeneca, Novo Nordisk, and others.

The Icahn School of Medicine at Mount Sinai is located in New York City on the border between the Upper East Side and East Harlem, and classroom teaching takes place on a campus facing Central Park. Icahn Mount Sinai’s location offers many opportunities to interact with and care for diverse communities. Learning extends well beyond the borders of our physical campus, to the eight hospitals of the Mount Sinai Health System, our academic affiliates, and globally.
-------------------------------------------------------
* Mount Sinai Health System member hospitals: The Mount Sinai Hospital; Mount Sinai Beth Israel; Mount Sinai Brooklyn; Mount Sinai Morningside; Mount Sinai Queens; Mount Sinai South Nassau; Mount Sinai West; and New York Eye and Ear Infirmary of Mount Sinai

END

[Attachments] See images for this press release:

Mount Sinai researchers develop novel method to improve disease prediction across diverse ancestries 2

Mount Sinai researchers develop novel method to improve disease prediction across diverse ancestries 3

ELSE PRESS RELEASES FROM THIS DATE:

How researchers are “CReATiNG” synthetic chromosomes faster and cheaper

2023-12-20

A groundbreaking new technique invented by researchers at the USC Dornsife College of Letters, Arts and Science may revolutionize the field of synthetic biology. Known as CReATiNG (Cloning Reprogramming and Assembling Tiled Natural Genomic DNA), the method offers a simpler and more cost-effective approach to constructing synthetic chromosomes. It could significantly advance genetic engineering and enable a wide range of advances in medicine, biotechnology, biofuel production and even space exploration. CReATiNG works by cloning and reassembling natural DNA segments from yeast, allowing scientists to create synthetic chromosomes that can replace their native counterparts in cells. ...

IOP Publishing expands open access in Asia Pacific region with its first Read and Publish agreement in Taiwan

2023-12-20

IOP Publishing (IOPP) has secured its first ‘Read and Publish’ transformative agreement in Taiwan, demonstrating its dedication to expanding open access (OA) to research in the Asia-Pacific (APAC) region and at scale globally. The three-year transformative agreement with the Physics Research Promotion Centre, which is part of the National Science and Technology Council (NSTC), will enable 20 Taiwanese universities to offer their researchers unlimited OA publishing at no cost to them. The agreement will also allow authors to retain copyright ...

Mediterranean diet ‘a straightforward approach’ among many nutritional options for improving the chance of success in IVF

2023-12-20

Adjuvant therapies to help infertile women conceive by IVF - especially those whose treatments have been unsuccessful in the past - are now a common feature both before and during the treatment cycle. Now, a new analysis of the evidence for many nutritional supplements and diets thought to improve outcome in IVF has concluded that adopting a Mediterranean diet during treatment would offer a single ‘straightforward approach’ with good evidence of benefit in contrast to that of a Western diet. Evidence from studies of nine commonly used nutritional supplements was found to be inconsistent and not always of good quality. The analysis, by Professor Roger ...

Could gamma brain stimulation help combat Alzheimer’s disease?

2023-12-20

A review in the Journal of Internal Medicine explores the potential of non-invasive interventions such as light, sound, and magnets to stimulate gamma brain waves for the treatment of Alzheimer’s disease. Such strategies may be beneficial because Alzheimer’s disease is characterized by reduced fast brain oscillations in the gamma range (30–100 Hz). The authors note that recent studies reveal that it is feasible and safe to induce 40 Hz brain activity in patients with Alzheimer’s disease through a range of methods. Also, preliminary evidence suggests that such treatment can yield beneficial ...

How does the inability to burp affect daily life?

2023-12-20

The inability to burp—called retrograde cricopharyngeus dysfunction (R-CPD)—is caused by failure of the throat’s cricopharyngeal muscle to relax to allow the outward passage of gas. An interview-based study in Neurogastroenterology & Motility that included 199 adults affected by the condition reveals the impact of R-CPD on quality of life. Most participants reported abdominal bloating, socially awkward gurgling noises, excessive flatulence, and difficulty vomiting. Only half discussed their symptoms with their primary care clinician, and 90% felt they did not receive ...

Does losing a parent during childhood contribute to separation anxiety and anxious attachment in women?

2023-12-20

Women who lost a parent early in life may be more likely to experience separation anxiety with romantic partners during adulthood, according to a study published in Stress and Health. In addition to feeling distressed when separated from their partners, these women may also experience anxious attachment, or worry that significant others will not be available at times of need. The study included 60 women who lost one or both parents in their youth and 60 who had living parents. Based on participants’ answers to questionnaires, women who lost a parent reported higher levels of anxious attachment and adult separation anxiety ...

Do steroid creams affect bone health?

2023-12-20

New research indicates that higher doses of topical corticosteroids, which are commonly used to treat inflammatory skin conditions, are linked with elevated risks of osteoporosis and bone fractures associated with osteoporosis. The findings are published in the Journal of the European Academy of Dermatology and Venereology and are based on information from the Taiwan National Health Insurance Research Database. Investigators selected 129,682 osteoporosis cases and 34,999 major osteoporotic fracture (MOF) cases and matched them with 518,728 and 139,996 controls (without osteoporosis or MOF) ...

360-degree head-up display view could warn drivers of road obstacles in real time

2023-12-20

Researchers have developed an augmented reality head-up display that could improve road safety by displaying potential hazards as high-resolution three-dimensional holograms directly in a driver’s field of vision in real time. Current head-up display systems are limited to two-dimensional projections onto the windscreen of a vehicle, but researchers from the Universities of Cambridge, Oxford and University College London (UCL) developed a system using 3D laser scanner and LiDAR data to create a fully 3D representation of London streets. The system ...

Taking out the cellular trash

2023-12-20

If we don’t take out the trash regularly, our homes become unpleasant and even a danger to our health. The same applies to our cells: If excess proteins and strands of genetic material aren’t removed, the cell and ultimately the entire organism can fall ill. For instance, scientists suspect there is a connection between Alzheimer’s and mutations that cause defects in cellular garbage removal. What’s more, tests with mice have shown that suppressing the breakdown of DNA and RNA can trigger serious autoimmune diseases. But concrete evidence is missing: “There’s a lot of research showing how genetic information in the ...

Aerogel can become the key to future terahertz technologies

2023-12-20

High-frequency terahertz waves have great potential for a number of applications including next-generation medical imaging and communication. Researchers at Linköping University, Sweden, have shown, in a study published in the journal Advanced Science, that the transmission of terahertz light through an aerogel made of cellulose and a conducting polymer can be tuned. This is an important step to unlock more applications for terahertz waves. The terahertz range covers wavelengths that lie between microwaves and infrared light on the electromagnetic spectrum. It has a very high frequency. Thanks to this, many researchers ...

LAST 30 PRESS RELEASES:

UC Irvine-led team engineers new enzyme to produce synthetic genetic material

New study unveils unique combination of DNA techniques to authenticate ginseng supplements and combat adulteration

Argonne receives funding for artificial intelligence in scientific research

Significant worldwide disparities in availability and timeliness of new cancer drugs

4+ hour emergency care wait linked to heightened risks of death and longer hospital stay for hip fracture patients

Policy change may be helping to drive rise in treatment-resistant vaginal thrush

Heat stress may still affect babies once born, first evidence suggests

Stressed bees lack the buzz in life

UC Irvine researchers discover atomic-level mechanism in polycrystalline materials

USC’s Rong Lu and Caltech’s Michael B. Elowitz win the NIH Director’s Transformative Research Award for their new approach to study blood and immune cell production in bone marrow