Health ❯Genetics

Rare Diseases

Progeria Diagnostic Testing Leber Congenital Amaurosis Movement Disorders Genetic Disorders Genome Sequencing Activated PI3-Kinase Delta Syndrome

Mary Catchpole Becomes First in Europe to Receive Targeted APDS Therapy

The NHS-approved tablet blocks a malfunctioning enzyme to normalize immune function for people with activated PI3-Kinase delta syndrome.

Proteomic Test Cuts Childhood Rare Disease Diagnosis to Under Three Days

Gene Therapy Restores Sight in Children Born Blind Due to Rare Eye Disorder

TikTok Star Beandri Booysen Dies at 19 After Battling Rare Aging Disorder

Genetic Cause of Spinocerebellar Ataxia 4 Identified After 25 Years