Giant Axonal Neuropathy is an autosomal recessive genetic disorder caused by mutations on both copies of the GAN gene. Severity of disease progression widely varies, as some missense mutation patients have a much slower progression. Patients whose GAN mutations render no level of functional protein typically die in the 3rd decade. Some, but not all genetically diagnosed GAN patients have extremely kinky hair.
Participate Today: Adults with Rare Disorders Support Study
HNF had the opportunity to connect with Kathleen Bogart, PhD, the Principal Investigator of the Adults with Rare Disorders Support Study in partnership with the National Organization for Rare Disorders (NORD). She is an Assistant Professor of Psychology at Oregon...
CBS News Report: A Mother’s Quest To Find Cure For Rare Genetic Defect
Raising global awareness of inherited neuropathies is a daily challenge we face head on at The Hereditary Neuropathy Foundation. Recognizing and understanding the people living with these debilitating and sometimes fatal disorders are paramount to finding treatments...
Hereditary Optic Neuropathy
Hereditary optic neuropathies are genetic disorders that cause vision loss. Those affected may also experience cardiac or neurological abnormalities. Currently, there are no effective treatments or cures for these inherited diseases. Optic neuropathy is one of the...