• HOME
  • NEWS
  • EXPLORE
    • CAREER
      • Companies
      • Jobs
    • EVENTS
    • iGEM
      • News
      • Team
    • PHOTOS
    • VIDEO
    • WIKI
  • BLOG
  • COMMUNITY
    • FACEBOOK
    • INSTAGRAM
    • TWITTER
Saturday, August 2, 2025
BIOENGINEER.ORG
No Result
View All Result
  • Login
  • HOME
  • NEWS
  • EXPLORE
    • CAREER
      • Companies
      • Jobs
        • Lecturer
        • PhD Studentship
        • Postdoc
        • Research Assistant
    • EVENTS
    • iGEM
      • News
      • Team
    • PHOTOS
    • VIDEO
    • WIKI
  • BLOG
  • COMMUNITY
    • FACEBOOK
    • INSTAGRAM
    • TWITTER
  • HOME
  • NEWS
  • EXPLORE
    • CAREER
      • Companies
      • Jobs
        • Lecturer
        • PhD Studentship
        • Postdoc
        • Research Assistant
    • EVENTS
    • iGEM
      • News
      • Team
    • PHOTOS
    • VIDEO
    • WIKI
  • BLOG
  • COMMUNITY
    • FACEBOOK
    • INSTAGRAM
    • TWITTER
No Result
View All Result
Bioengineer.org
No Result
View All Result
Home NEWS Science News Health

Scientists scour genes of 53,000+ people to better battle dangerous diseases

Bioengineer by Bioengineer
April 5, 2021
in Health
Reading Time: 3 mins read
0
Share on FacebookShare on TwitterShare on LinkedinShare on RedditShare on Telegram

IMAGE

Credit: UVA Health

A new analysis of the entire genetic makeup of more than 53,000 people offers a bonanza of valuable insights into heart, lung, blood and sleep disorders, paving the way for new and better ways to treat and prevent some of the most common causes of disability and death.

The analysis from the Trans-Omics for Precision Medicine (TOPMed) program examines the complete genomes of 53,831 people of diverse backgrounds on different continents. Most are from minority groups, which have been historically underrepresented in genetic studies. The increased representation should translate into better understanding of how heart, lung, blood and sleep disorders affect minorities and should help reduce longstanding health disparities.

“The Human Genome Project has generated a lot of promises and opportunities for applying genomics to precision medicine, and the TOPMed program is a major step in this direction,” said Stephen S. Rich, PhD, a genetics researcher at the University of Virginia School of Medicine who helped lead the project. “An important feature of TOPMed is not only publishing the genomic data on 53,000 people with massive amounts of data related to heart, lung, blood and sleep disorders but also the great diversity of the participants who donated their blood and data.”

Historic Genome Analysis

The groundbreaking work identified 400 million genetic variants, of which more than 78% had never been described. Nearly 97% were extremely rare, occurring in less than 1% of people. This sheds light on both how genes mutate and on human evolution itself, the researchers say.

Of the groups studied, people of African descent had the greatest genetic variability, the researchers found. The resulting data is the best ever produced on people of African ancestry, the scientists report in the prestigious journal Nature.

The work also offers important new insights into certain gene variants that can reduce people’s ability to benefit from prescription drugs. This can vary by race and ethnic group.

“TOPMed is an important and historic effort to include under-represented minority participants in genetic studies,” said Rich, who served on the project’s Executive Committee and chaired the Steering Committee. “The work of TOPMed should translate not only into better scientific knowledge but increase diversity at all levels – scientists, trainees, participants – in work to extend personalized medicine for everyone.”

Rich was joined in the effort by UVA’s Ani Manichaikul, PhD; Joe Mychaleckyj, DPhil; and Aakrosh Ratan, PhD. All four are part of both the Center for Public Health Genomics and UVA’s Department of Public Health Sciences.

###

About TOPMed

The UVA researchers were part of an international team of more than 180 leading genomics experts analyzing the vast quantities of data from TOPMed, a project of the National Institutes of Health’s National Heart, Lung and Blood Institute.

The work, though, is really just the beginning. The scientists hope their efforts will ultimately yield important insights about the “genetic architecture” of the heart, lung and blood systems and lead to new ways to prevent, treat and cure the worst maladies that plague those systems.

In particular, they hope their findings will help advance precision medicine tailored specifically to the needs of each individual patient.

“The current TOPMed publication, while reporting on 53,000 participants, is really only the beginning,” Rich said. “TOPMed has already conducted whole genome sequencing on over 140,000 ancestrally diverse individuals, and is generating greater insight into the ways genomics can address problems related to human health and disease.”

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

Media Contact
Josh Barney
[email protected]

Original Source

https://newsroom.uvahealth.com/2021/04/01/scientists-scour-genes-of-53000-people-to-battle-dangerous-diseases/

Related Journal Article

http://dx.doi.org/10.1038/s41586-021-03205-y

Tags: BiologyCardiologyGene TherapyGenesGeneticsInternal MedicineMedicine/HealthneurobiologyPulmonary/Respiratory MedicineSleep/Sleep Disorders
Share12Tweet8Share2ShareShareShare2

Related Posts

blank

Unraveling EMT’s Role in Colorectal Cancer Spread

August 2, 2025
Gut γδ T17 Cells Drive Brain Inflammation via STING

Gut γδ T17 Cells Drive Brain Inflammation via STING

August 2, 2025

Agent-Based Framework for Assessing Environmental Exposures

August 2, 2025

MARCO Drives Myeloid Suppressor Cell Differentiation, Immunity

August 2, 2025
Please login to join discussion

POPULAR NEWS

  • Blind to the Burn

    Overlooked Dangers: Debunking Common Myths About Skin Cancer Risk in the U.S.

    60 shares
    Share 24 Tweet 15
  • Dr. Miriam Merad Honored with French Knighthood for Groundbreaking Contributions to Science and Medicine

    46 shares
    Share 18 Tweet 12
  • Neuropsychiatric Risks Linked to COVID-19 Revealed

    39 shares
    Share 16 Tweet 10
  • Study Reveals Beta-HPV Directly Causes Skin Cancer in Immunocompromised Individuals

    38 shares
    Share 15 Tweet 10

About

We bring you the latest biotechnology news from best research centers and universities around the world. Check our website.

Follow us

Recent News

Unraveling EMT’s Role in Colorectal Cancer Spread

Gut γδ T17 Cells Drive Brain Inflammation via STING

Agent-Based Framework for Assessing Environmental Exposures

  • Contact Us

Bioengineer.org © Copyright 2023 All Rights Reserved.

Welcome Back!

Login to your account below

Forgotten Password?

Retrieve your password

Please enter your username or email address to reset your password.

Log In
No Result
View All Result
  • Homepages
    • Home Page 1
    • Home Page 2
  • News
  • National
  • Business
  • Health
  • Lifestyle
  • Science

Bioengineer.org © Copyright 2023 All Rights Reserved.