Advanced systemic mastocytosis, a rare blood disorder, is marked by excessive mast cell growth leading to severe symptoms and potential cancer. Explore symptoms, causes, and treatment.

Because of Violet Fuchs' rare genetic disease, she is blind, non-verbal and quadriplegic. She cannot move independently and ...

Genomic testing involves analysing or sequencing a person’s DNA, to identify genetic changes that can help diagnose or screen ...

A unique mutation carried by an 8-year-old girl supported a diagnosis of spinal muscle atrophy with lower extremity ...

Genethon & Hansa begin phase 2 trial of imlifidase as a pre-treatment to GNT-0003 in severe Crigler-Najjar syndrome: Lund, Sweden Wednesday, December 4, 2024, 18:00 Hrs [IST] Hans ...

The Philippine Health Insurance Corp. (PhilHealth) will expand its health-care packages before the end of the year to cover ...

The gene-editing technique known as CRISPR is promising to revolutionize medicine. Some researchers are trying to help make it available for people with very rare genetic disorders.

Multiplexed assays of variant effect are an increasingly important tool in genetic research and including more context specificity in their design would aid interpretation and discovery.

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease characterized primarily by the formation of heterotopic ...

After Natalie Rex was diagnosed with Friedreich’s ataxia -- a rare genetic and usually fatal neurological disease -- her twin sister, Melanie, became her roommate and caregiver.

The Botswana Inherited Bleeding Disorders Association (BIBDA) is set to host a camp to impart knowledge on haemophilia, which ...

The charity has granted £24,089 to help develop a diagnostic test for early and cheap genetic sequencing of anaplastic ...