Investigators from the OHSU Rare Disorders 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.

• Achondroplasia
• Activity-Dependent Neuroprotective Protein syndrome (ADNP)
• Alagille syndrome
• Alpha-1 antitrypsin deficiency (AATD)
• Ankylosing spondylitis
• Arrhythmogenic right ventricular dysplasia (ARVD)
• Ataxia telangiectasia
• Atrioventricular septal defect (AVSD)
• Autosomal recessive congenital ichthyosis (ARCI)
• Bartter syndrome
• Behcet disease
• Blau syndrome
• Bloom syndrome
• Breast and ovarian cancer, hereditary (HBOC)
• Bronchiectasis
• Carnitine palmitoyltransferase I deficiency (CPT1)
• Cerebrotendinous xanthomatosis (CTX)
• Charcot-Marie-Tooth disease (CMT)
• Chronic myelogenous leukemia (CML)
• Churg-Strauss syndrome (CSS)
• Cockayne syndrome
• Congenital stationary night blindness (CSNB)
• Connective tissue disorders, hereditary
• Creutzfeld-Jakob disease (CJD)
• Cystic fibrosis (CF)
• Duchenne muscular dystrophy (DMD)
• Dyschondrosteosis / Leri-Weill dyschondrosteosis (LWD)
• Dyskeratosis congenita (DKC)
• Ebstein anomaly
• Ectopia lentis
• Ehlers-Danlos syndrome (EDS)
• Eisenmenger syndrome
• Erdheim-Chester disease
• Fabry
• Fanconi anemia (FA)
• Fatty acid hydroxylase-associated neurodegeneration
• Feingold syndrome
• Garre disease
• Gastrointestinal stromal tumors (GIST)
• Gitelman syndrome (GS)
• Glutaric acidemia
• Gordon syndrome
• Hand-foot-genital syndrome (HFG)
• Hemochromatosis, hereditary (HH)
• Hemophilia
• Hemorrhagic telangiectasia, hereditary (HHT)
• Holoprosencephaly (HPE)
• Huntington disease (HD)
• Hypoplastic left heart syndrome (HLHS)
• Infantile neuroaxonal dystrophy (INAD)
• Knobloch syndrome (KS)
• Konzo
• Langerhans cell histiocytosis (LCH)
• Leber congenital amaurosis (LCA)
• Lissencephaly
• Loeys-Dietz syndrome (LDS)
• Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)
• Long QT syndrome (LQTS) / Romano-Ward syndrome
• Lymphangioleiomyomatosis (LAM)
• Lysosomal storage diseases (LSDs)
• Marfan syndrome (MFS)
• Medulloblastoma
• Mevalonate kinase deficiency / hyper IgD syndrome (HIDS)
• Mitochondrial membrane protein-associated neurodegeneration (MPAN)
• Muscular dystrophy
• Nephrogenic diabetes insipidus (NDI)
• Neurodegeneration with brain iron accumulation (NBIA)
• Neurofibromatosis type 1 (NF1)
• Neurofibromatosis type 2 (NF2)
• Neuronal ceroid lipofuscinosis (NCL) / Batten disease
• Niemann-Pick type C
• Osteogenesis imperfecta (OI)
• Pantothenate kinase-associated neurodegeneration (PKAN)
• Paroxysmal nocturnal hemoglobinuria (PNH)
• Phenylketonuria (PKU)
• Pompe disease / glycogen storage disease type II (GSD II)
• Prader-Willi syndrome (PWS)
• Progressive familial intrahepatic cholestasis
• Pseudoachondroplasia
• Pulmonary arterial hypertension (PAH)
• Retinal degenerative diseases
• Retinal dystrophies, hereditary
• Retinitis pigmentosa (RP)
• Retinoblastoma
• Retinopathies, hereditary
• Rett syndrome
• Schizencephaly
• Schwannomatosis
• Septo-optic dysplasia (SOD)
• Shprintzen-Goldberg syndrome (SGS)
• Sickle cell disease
• Sitosterolemia
• Sjogren-Larsson syndrome (SLS)
• Smith-Lemli-Opitz syndrome (SLOS)
• Spinal muscular atrophy (SMA)
• STAT5B deficiency
• Takayasu's arteritis
• Tetralogy of Fallot (TOF)
• Thanatophoric dysplasia type II
• Thoracic aortic aneurysm and dissection (TAAD)
• Thymic neoplasms
• Tourette syndrome
• Trichothiodystrophy
• Turner syndrome
• Tyrosinemia
• Weill-Marchesani syndrome (WMS)
• Werner syndrome
• Xeroderma pigmentosum (XP)