Rare disease projects
The BioResource has built patient cohorts, including relatives, for more than 60 rare diseases.
The table below lists each rare disease cohort, the number of active participants, and whether participants are adult, paediatric or both.
All groups are available for recall studies.
If you have any questions, please email: rarediseases@bioresource.nihr.ac.uk.
Clinical data has been collected specific to each project and examples of the clinical report forms for each project are available upon request.
| Project code | Rare disease condition | Participants | Adults/Paediatric*/Both |
|---|---|---|---|
| RDC-AAT | Alph-1 Antitrypsin Deficiency | 246 | Both |
| RDC-ACH | Achondroplasia and Hypochondroplasia | 22 | Both |
| RDC-AIH | Autoimmune Hepatitis | 362 | Both |
| RDC-AIV | Autoimmune Vasculitis | 448 | Adults |
| RDC-AMC | Arthrogryposis | 71 | Both |
| RDC-AND | Rare Autoimmune Neurological Disease | 36 | Adults |
| RDC-AOD | Aortic Dissection | 101 | Adults |
| RDC-ATG | Ataxia Telangiectasia | < 10 | Both |
| RDC-BCA | Refractoriness First-line Treatment for Blood Cell Autoimmunity | 560 | Both |
| RDC-BCR | Birdshot Chorioretinopathy | 75 | Adults |
| RDC-BPD | Bleeding, Thrombotic and Platelet Disorders | 3356 | Both |
| RDC-CFT | Cystic Fibrosis | 1367 | Both |
| RDC-CHG | CHARGE Syndrome | < 10 | Paeds |
| RDC-CHI | Congenital Hyperinsulinism | 11 | Paeds |
| RDC-CIL | Ciliopathies: Bardet Biedl and Alström Syndrome | 87 | Both |
| RDC-CKD | Pregnancy in Chronic Kidney Disease | 229 | Adults |
| RDC-CRD | Chromatin Disorders | < 10 | Both |
| RDC-CSV | Cerebral Small Vessel Disease | 301 | Adults |
| RDC-CTL | Cutaneous Lymphoma | 135 | Adults |
| RDC-CYS | Cystinosis | 40 | Adults |
| RDC-ECT | Multiple Endocrine Neoplasia Type 1 and Pancreatic Neuroendocrine Tumours | 114 | Both |
| RDC-FIP | Familial Interstitial Pneumonia | 72 | Adults |
| RDC-GCA | Giant Cell Arteritis | 278 | Adults |
| RDC-HAE | Hereditary Angioedema | 88 | Adults |
| RDC-HBP | Haemoglobinopathies | 1188 | Both |
| RDC-HCD | Histiocytic Disorders | 18 | Adults |
| RDC-HXR | Hydroxychloroquine Retinopathy | 13 | Adults |
| RDC-IAN | IgA Nephropathy | 799 | Both |
| RDC-ICP | Intrahepatic Cholestasis of Pregnancy | 323 | Adults |
| RDC-IMP | Imprinting Disorders cohort | 71 | Both |
| RDC-IND | Rare Inherited Neurological Disorders | 355 | Both |
| RDC-ION | Inherited Optic Neuropathies | 139 | Both |
| RDC-IRD | Inherited Retinal Dystrophy | 1490 | Both |
| RDC-JSC | Juvenile Systemic Sclerosis | < 10 | Both |
| RDC-MAC | Ocular Maldevelopment: Microphthalmia, Anophthalmia and Ocular Coloboma | 145 | Both |
| RDC-MBD | Monogenic Beta-cell Diabetes | 69 | Adults |
| RDC-MMT | Multiple Primary Malignant Tumours | 777 | Both |
| RDC-MNP | Membranous Nephropathy | 12 | Adults |
| RDC-NF1 | Neurofibromatosis type 1 | 444 | Both |
| RDC-NF2 | Neurofibromatosis type 2 | 208 | Both |
| RDC-NRC | Narcolepsy - Type 1 and Type 2 | 45 | Both |
| RDC-PBC | Primary Biliary Cholangitis | 278 | Adults |
| RDC-PCD | Primary Ciliary Dyskinesia | 34 | Adults |
| RDC-PDC | Type 2 Diabetes in Children | 28 | Both |
| RDC-PID | Primary Immunodeficiency | 2553 | Both |
| RDC-PMG | Membranoproliferative Glomerulonephritis and C3 Glomerulopathy | 276 | Both |
| RDC-PND | Paediatric Neurodevelopmental Disorders | 357 | Both |
| RDC-POD | Overgrowth Disorders | 15 | Both |
| RDC-PSC | Primary Sclerosing Cholangitis | 363 | Both |
| RDC-PSJ | Primary Sjogrens Syndrome | 302 | Adults |
| RDC-SAD | Systemic Autoinflammatory Disorders - AOSD and uSAID | 115 | Both |
| RDC-SAP | SAPHO (synovitis, acne, pustulosis, hyperostosis, osteitis) | 121 | Both |
| RDC-SHG | Severe Hyperemesis Gravidarum | 226 | Adults |
| RDC-SMD | Stem Cell and Myeloid Disorders | 278 | Both |
| RDC-SOD | Septo-optic Dysplasia | 14 | Both |
| RDC-SSC | Systemic Sclerosis | 614 | Adults |
| RDC-TTA | Transthyretin Amyloidosis | 1085 | Adults |
| RDC-TUS | Turner’s Syndrome | 131 | Both |
| RDC-WOL | Wolfram Syndrome | 18 | Both |
*at time of consenting