Mitochondrial Diseases and NAMDC

The NAMDC Patient Registry and Bioregistry is a collection of patients with suspected or confirmed mitochondrial disease. Mitochondrial diseases comprise a group of relatively rare but very serious genetic disorders. Mitochondria are often called the "powerhouses of the cell" because they provide the energy our cells need to live.

Mitochondrial diseases result in poorly functioning mitochondria and can cause a variety of symptoms including muscle weakness, seizures, mental retardation, dementia, hearing loss, blindness, strokes, diabetes, and premature death. Some examples of mitochondrial diseases include Kearns-Sayre Syndrome, Leber Hereditary Optic Neuropathy (LHON), mitochondrial myopathy, etc.)  Research into mitochondrial diseases has been hampered by the low frequency of these disorders and by underdiagnosis by clinicians. This has hindered patient recruitment for research studies and clinical trials.

By creating a mechanism for the sharing of patient data and patient contact information, and tissue samples, NAMDC will make it easier to conduct clinical and basic laboratory research and further our understanding of mitochondrial disease.

Principal Investigators

Jerry Vockley, MD, PhD
Uta Lichter-Konecki, MD, PhD