Rare Disorders
Investigators from the OHSU Rare Disorder Research Consortium study many aspects of rare disorders, from gene discovery to disease mechanisms to therapeutics. The links below provide more information about each disorder currently under study and related investigators. Links to reputable resources widely used in the genetics community provide disease information. Many of these resources are edited or authored by our investigators.
Disorders:
- Alpha-1 antitrypsin deficiency
- Bronchiectasis
- Cerebrotendinous xanthomatosis
- Ehlers-Danlos syndrome
- Familial thoracic aortic aneurysm/dissection
- Infantile neuroaxonal dystrophy (INAD)
- Loeys-Dietz syndrome
- Lymphangioleimyomatosis (LAM)
- Marfan syndrome (MFS)
- Mevalonate kinase deficiency/Hyper IgD
- Neurodegeneration with brain iron accumulation (NBIA)
- Neuronal ceroid lipofuscinosis
- Osteogenesis imperfecta (OI)
- Pantothenate kinase-associated neurodegeneration (PKAN)
- Phenylketonuria (PKU)
- Shprintzen-Goldberg syndrome
- Smith-Lemli-Opitz syndrome
- Turner syndrome
- Weill-Marchesani syndrome
