Wikipedia -WSS

Wikipedia

author：comprehensive 2025-09-30 20:47:31 - browse：9416

Dozens of figures stand in Oceania on a 3D map — coverage from STAT — Adobe

The two patients had both died young from heart problems. When researchers looked at their DNA, they spotted another commonality: The two shared a particular version of a gene that helps the heart beat. Perhaps, the researchers thought, the variant could explain their heart conditions.

Genomic datasets indicated the variant was rare, meaning it could be the cause of a rare disease. While most other labs that had seen the variant weren’t sure what it meant, one indicated it was likely disease-causing.

The researchers set out to find out for sure. And after surveying labs around the world, poring through papers, and digging through datasets, the team found that the variant was in fact a harmless spelling of the gene in question. What’s more — it turned out the variant was not so rare after all.

Get unlimited access to award-winning journalism and exclusive events.

Subscribe Log In

Previous article： What does generative AI mean for health care? We asked experts
Next article： Vaccine advisory panel ACIP left half staffed by HHS

Wikipedia

WSS

BioAge raises $170M for combination therapy with Zepbound

Hospitals are piloting generative AI tools as regulators play catch

Readout LOUD podcast: Pharma in Washington, Alnylam, and Gilead

Readout LOUD podcast: Pharma in Washington, Alnylam, and Gilead

Bipartisan group of lawmakers warns of a rising Chinese threat to U.S. biotech

Ring Therapeutics, a Flagship gene therapy startup, lays off 20% of staff

hotspot

Wikipedia

explore

Hollywood unions extend contract negotiations for actors

Reporting on presidential health from Reagan to Trump and Biden

Over 800 arrested across France in 3rd night of riots after fatal police shooting of teen

Elevance, SCAN deals highlight health insurer acquisition scrutiny

What does generative AI mean for health care? We asked experts

KalVista pill reduced swelling 'attacks' caused by genetic disease

DIEP, the 'gold standard' of breast reconstruction, is under threat

Doctors' information doesn't help them choose wisely when sick

In Memoriam: Notable people who died in 2023

Bipartisan group of lawmakers warns of a rising Chinese threat to U.S. biotech

hotspot

New study raises questions about niacin and heart health

KalVista pill reduced swelling 'attacks' caused by genetic disease

How digital tools helped lower hypertension in marginalized patients

Bipartisan group of lawmakers warns of a rising Chinese threat to U.S. biotech

Ring Therapeutics, a Flagship gene therapy startup, lays off 20% of staff

Obamacare plans could cover weight loss drugs

focus

Wikipedia

focus

explore