Neurofibromatosis type 1 (NF1) is a genetic condition that affects the skin, nervous system, and other parts of the body. The condition, formerly called Von Recklinghausen disease, causes changes in ...

Scientists at the Icahn School of Medicine at Mount Sinai have developed a novel artificial intelligence tool that not only identifies disease-causing genetic mutations but also predicts the type of ...

– The Alnylam Act ® program is a genetic testing initiative designed to enable improved patient diagnosis of three rare, devastating, and life-threatening genetic diseases – – Through the Alnylam Act ...

Genetic testing can help doctors diagnose some neurological disorders, such as Huntington’s disease. It can also provide insights into a person’s risk of future health conditions. Genetic testing ...

Scientists at the Icahn School of Medicine at Mount Sinai have developed a novel artificial intelligence tool that not only identifies disease-causing genetic mutations but also predicts the type of ...

This article is part of “Innovations In: Type 1 Diabetes,” an editorially independent special report that was produced with financial support from Vertex. In 2024 Stephen Rich and his colleagues ...

Scientists discovered that aging DNA repeats expand at wildly different speeds—and in some people, the consequences can be devastating. A sweeping genetic study drawing on data from more than 900,000 ...

Tiffany Fransen, diagnosed with Friedreich's ataxia, faces challenges from this rare disease. The genetic disorder affects ...

Researchers have conducted the most comprehensive analysis to date linking plasma proteins to genetic variation in ...

An analysis of genetic data from over 900,000 people shows that certain stretches of DNA, made up of short sequences repeated ...