Gaucher disease is a rare genetic disorder in which your body doesn’t make enough of an enzyme that breaks down fats. The symptoms begin earlier and are more severe than in type 1 but begin later and ...

– 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 ...

Rare genetic disorders are typically caused by a variant in a single gene. It is estimated that there are over 7000 such conditions, meaning that although individually rare, they are collectively ...

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 ...

Leukodystrophy refers to a group of rare genetic disorders affecting the central nervous system (CNS). The CNS includes the brain and spinal cord. The outlook for people with these disorders is ...