Fostering dialogue between neurologists, researchers, patient representatives, and policymakers is an important step towards ...

Washington University-led research shows a small group of participants in an Alzheimer’s study experienced a significant ...

Patients with Fuchs endothelial corneal dystrophy with particular genetic markers are at higher risk for surgery and vision loss.

Federal funding for biomedical research pays off by enabling basic discoveries that lead to lifesaving treatments, writes ...

When Beverly Jacobson first learned that her unborn daughter Verity would be born with the rare genetic condition trisomy 18, ...

The ACMG Foundation for Genetic and Genomic Medicine is proud to present the ACMG Foundation David L. Rimoin Inspiring Excellence Award to Ali H. Bereshneh, PhD for his featured platform presentation, ...

Consanguinity is common in multiple regions, particularly in the Middle East and Africa, and can have positive and negative consequences. A significant proportion of genetic diseases manifest as ...

Rare diseases affect one in 17 people in the UK, but a Government initiative designed to improve their quality of life will ...

Genetically targeted technologies are built on Nobel Prize-winning science. They represent a scientific “quantum leap” that ...

The Cherokee Nation Health Services Rare Disease Task Force has released a report outlining progress made over the past year ...

Rare diseases - a medical condition so obscure that even your doctor has to Google. Despite their name, these diseases ...

it’s known as early-onset Alzheimer’s disease, which accounts for less than 10% of cases. Early-onset Alzheimer’s can happen ...