UVA taking part in Asian gene study to help doctors battle disease

uva healthA new study of genes in Asian populations conducted by researchers from dozens of institutions around the world, including the University of Virginia School of Medicine, is filling in big gaps in our understanding of human genetics.

Working as the GenomeAsia100K Consortium, the researchers have examined the genomes of 1,739 people from 219 different population groups in 64 countries across Asia.

The ultimate goal is to sequence the genomes of 100,000 people across Asia. The goal is to produce a trove of genetic information to help medical researchers and doctors better understand and treat genetic diseases, identify those at risk and even determine how patients will respond to drugs.

“Under-representation of Asian populations in genetic studies has meant that medical relevance for more than half of the human population is reduced,” said researcher Aakrosh Ratan, PhD, of UVA’s Department of Public Health Sciences and the Center for Public Health Genomics. “The main goal of the project is to increase the number of people included in these genetic studies, primarily to boost our knowledge about medical genetics but also to understand human migration and human origins.”

Important Gene Mutations

There are natural gene mutations among and between different populations, Ratan explained. This partly explains why certain populations of different ancestry seem to have a greater risk of certain diseases.

Creating detailed reference databases for Asian populations will be a big benefit for medical genetics for all human populations but especially for efforts to understand rare diseases in Asia.

“For example, in our new paper, we talk about MODY, which refers to maturity-onset diabetes of the young. This is a rarer type of diabetes that usually develops before the age of 25, and often you do not require insulin,” Ratan said. “What we showed was that if doctors wanted to treat patients in India with the disease, they would greatly benefit from having information about genetic mutations found in Indian populations to identify the genetic differences that could be causing the disease. If you only look in databases that contain mutation data from European individuals, you are more likely to see false-positive results, and you will find it harder to pinpoint the exact gene causing the disease.”

Not only does the research shed light on the cause of diseases, but it will also help doctors better care for patients. For example, some groups may be more prone to an adverse reaction to a particular drug. Identifying the genes responsible could help doctors know which patients should not get that drug, or should not get that drug in certain doses.

“We also studied the genetic differences associated with an adverse reaction to several common drugs and were able to identify Asian populations that showed large variation in their response,” Ratan said. “These reference databases are vital to predict or understand why some drugs should not be dispensed in certain dosages to people of certain populations.”

Findings Published

Ratan and his collaborators in the GenomeAsia100K Consortium have published their early findings in the prestigious scientific journal Nature. They expect their research will continue for several years.

“I am excited that sequences from several Asian populations will become available as a result of this project,” Ratan noted. “It was my first time working in an international consortium, and it was an amazing learning experience.”

To keep up with the latest medical research news from UVA, subscribe to the Making of Medicine blog at makingofmedicine.virginia.edu.



augusta free press
augusta free press news

UVA Basketball Fans!

uva basketball team of destiny
Team of Destiny: Inside Virginia Basketball’s Run to the 2019 National Championship, by Jerry Ratcliffe and Chris Graham, is available for $25. The book, with additional reporting by Zach Pereles, Scott Ratcliffe, and Scott German, will take you from the aftermath of the stunning first-round loss to UMBC in 2018 through to the thrilling overtime win over Texas Tech to win the 2019 national title, the first in school history.

Dick Vitale on Team of Destiny: “This is a hoops story you will LOVE! Jerry and Chris capture the sensational and dramatic championship journey by Tony Bennett and his tenacious Cavalier team. UVA was Awesome Baby and so is this book!”

Ralph Sampson on Team of Destiny: “Jerry and Chris have lived and seen it all, even before my time. I highly recommend this book to every basketball fan across the globe. This story translates to all who know defeat and how to overcome it!”

Buy here.

AFP Business

As professional consultants, Augusta Free Press LLC provides clients in the Shenandoah Valley and Central Virginia and beyond with marketing and PR solutions including website design, SEO, TV/radio, video work, branding and logos, social media and overall marketing campaign design and implementation. Augusta Free Press LLC was founded in 2002.

Web Design

Augusta Free Press has designed more than 800 websites for clients in the Shenandoah Valley and Central Virginia. We take care of all facets of web design – visual design, layout design, content development and SEO. Short on staff? We’ll work with you to update your AFP-designed website in a timely manner or train your staff to make changes.

Marketing/Social Media Management

Augusta Free Press manages advertising campaigns for small- and medium-sized businesses across Virginia. You don’t need to hire a full-time marketing coordinator. Bring the experience of the Augusta Free Press team to work for you – for a fraction of the cost.

Graphic Design

Augusta Free Press will help you take your vision to the next level. From branding and logos to print materials, our team will work with you to develop products to showcase your business. From brochures and rack cards to full-color magazines or print/digital ads, we’ve got you covered.

Event Planning/Fundraising

Augusta Free Press will help you plan the best event for your organization. From an open house or anniversary to a 5K or Pay Per View, we can handle it all. Looking for training for your sales staff? We can help energize your employees or board. Need ideas to raise more money? Let us help you plan a successful event. Want to hold a news conference or need help with a press release? We can do that too.

Click here for more.