Investigators from the OHSU Rare Disorders Research Consortium study many aspects of rare disorders, from gene discovery to disease mechanisms to therapeutics.  

• 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)