Understanding Down syndrome, genetic condition with an extra chromosome 21, is crucial for providing appropriate care and ...

A new study finds that men with an extra Y chromosome may face a higher autism risk, revealing how sex chromosomes influence ...

A Nature study reveals how hidden DNA repair safeguards protect chromosomes for decades, explaining infertility, miscarriages ...

Chromosome 6p25 deletion syndrome is a rare but significant genetic disorder that arises from a deletion affecting the terminal region of the short arm of chromosome 6. This region encompasses several ...

Researchers led by UC Davis Health scientist Sanchita Bhatnagar have developed a promising gene therapy that could treat Rett syndrome. The therapy works on reactivating healthy but silent genes ...

Scientists have discovered that mutations in the EPG5 gene—known for causing the rare childhood disorder Vici syndrome—also increase the risk of Parkinson’s disease and dementia later in life.

Country singer Ashley Cooke revealed she’s been diagnosed with Brugada syndrome, a rare and potentially fatal heart condition ...

Fourteen-year-old Isla Steed has unique challenges as one of just four people in Australia diagnosed with CHOPS syndrome.

Denali Therapeutics got an extension from the Food and Drug Administration for the review of its treatment for the genetic disorder Hunter syndrome. The target date for the license application review ...

October is Down Syndrome Awareness Month, and a local organization held a fundraiser that allows people to celebrate and walk ...

Ochsner Health announces the launch of its Genetic Wellness Assessment, an innovative screening tool to help identify individuals at risk for hereditary cancers.

Researchers led by UC Davis Health scientist Sanchita Bhatnagar have developed a promising gene therapy that could treat Rett syndrome. The therapy works on reactivating healthy but silent genes ...