If you’ve met one person with autism, the saying goes, you’ve met one person with autism. This popular quote attributed to ...

An AI-powered tool is helping researchers uncover genetic clues to rare diseases, potentially accelerating diagnoses and treatments for conditions that affect only a fraction of the population.

- By examining over 100 unique variants associated with the CASR gene causative of ADH1, the average frequency of gain-of-function CASR variants was ...

On July 9, 2025, participants of the 2025 National DNA Essay Contest had the unique opportunity to meet Medicover Genetics' scientists and explore the state-of-the-art genetic laboratories ...

New study shows that a genetic variant inherited from Neandertals impairs the function of a key enzyme involved in muscle performance ...

Resources are available to help physicians when they encounter variants of unknown significance during genetic testing, Troy R. Torgerson, MD, PhD, said during Updates in Primary Immunodeficiency ...

Genome wide association studies (GWAS) have identified hundreds of genome regions containing thousands of genetic variants associated with asthma, but it's still not clear which variants have an ...

This study links rare genetic variants to type 2 diabetes risk, emphasizing their role in monogenic diabetes and potential for precision medicine integration.

Specific variants of the melatonin receptor 1A gene are a potential genetic cause of idiopathic osteoporosis, according to study findings in Science Translational Medicine.

REYKJAVIK, Iceland, July 24, 2024 /PRNewswire/ -- A new study by scientists at deCODE Genetics, subsidiary of Amgen, shows that sequence variants drive the correlation between DNA methylation and gene ...