diseases caused by mutations

Alpers Disease Alpers disease is a progressive, neurodevelopmental, mitochondrial DNA depletion syndrome characterized by three co-occurring clinical symptoms: psychomotor regression (dementia); seizures; Read More

Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) When you have a severe combined immunodeficiency (SCID), your immune system can’t fight off even mild Read More