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

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

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 ...

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

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 ...

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

Human fertility hinges on a delicate molecular ballet that begins even before birth. UC Davis researchers have uncovered how special protein networks safeguard chromosomes as eggs and sperm form, ...

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.

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

Basic safety equipment should be “automatic,” doctors say, for a little girl born with a rare neurologic disorder. Insurance ...

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 ...