The rare disease projects that are currently running are shown in the table below. These projects include those progressed under the NIHR Rare Diseases Translational Research Collaboration, which used in-depth phenotyping to study rare diseases, participants recruited for the whole genome sequencing projects, and newer projects put forward by the 13 NIHR BioResource Centres. We expect this list to grow, as up to 100 rare diseases projects begin recruiting. If you have any questions about these projects, please email: rarediseases@bioresource.nihr.ac.uk.
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
| Disease | Lead Institute |
| Alpha-1 Antitrypsin Deficiency (AATD) | Birmingham |
| Arthrogryposis (AMC) | Birmingham |
| Atypical Haemolytic Uraemic Syndrome (AHUS) | Newcastle |
| Autoimmune Hepatitis (AIH) | Newcastle |
| Autosomal Dominant Parkinson’s Disease (ADP) | University College London Hospitals |
| Bleeding and Platelet Disorders (BPD) | Cambridge |
| Cerebral Small Vessel Disease (CSVD) | Cambridge |
| Ciliopathies – Bardet-Biedl and Alstrom Syndrome (BB) | University College London Hospitals |
| Cone Dysfunction Syndromes (CONEs) – see IRD | Moorfields |
| Congenital Hyperinsulinism (CHI) | Manchester |
| Cutaneous Lymphoma (CTCL) | Birmingham |
| Dystonia | University College London Hospitals |
| Idiopathic and heritable pulmonary arterial hypertension (PAH) | Cambridge / Papworth |
| IgA Nephropathy (IgA N) | Leicester |
| Imprinting Disorders cohort (IMP) | Southampton |
| Inheritable Factor XI Deficiency (Factor XI) | University College London Hospitals |
| Inherited Optic Neuropathies (ION) | Cambridge / Moorfields |
| Inherited Retinal Dystrophy (IRD) – incl. ‘STGD’ and ‘CONEs’ | Moorfields |
| Intrahepatic Cholestasis of Pregnancy (ICP) | KCL / Guy’s and St Thomas’ Hospitals |
| Leber Hereditary Optic Neuropathy (LHON) – see ION project | |
| Membranoproliferative Glomerulonephritis and C3 Glomerulopathy (MPGN & C3G) |
University College London Hospitals |
| Multiple Endocrine Neoplasia Type 1 and Neuroendocrine Tumours (MEN1/NETs) |
Oxford |
| Multiple Primary Malignant Tumours (MPMT) | Cambridge |
| Multiple System Atrophy (MSA) | University College London Hospitals |
| Neurofibromatosis type 1 (NF1) | Manchester |
| Neurofibromatosis type 2 (NF2) | Manchester |
| Phenotyping Overgrowth Disorders (POD) | Birmingham |
| Paediatric Myelodysplastic Syndromes (Paed_MDS) | Oxford |
| Paediatric Neurodevelopmental disorders (PNDD) | Cambridge |
| Pregnancy in chronic kidney disease (P_CKD) | KCL |
| Primary Biliary Cirrhosis (PBC) | Cambridge |
| Primary Immune Disorders (PID) | Cambridge |
| Primary Sclerosing Cholangitis (PSC) | Birmingham |
| Primary Sjogrens Syndrome (SJ) | Newcastle |
| Rare Inherited Neurological Disorders (RIND) | Cambridge |
| Rare coronary phenotypes leading to acute coronary syndromes: spontaneous coronary artery dissection and coronary artery aneurysms/ectasia (SCAD/CAE) | Leicester |
| SAPHO (synovitis, acne, pustulosis, hyperostosis, osteitis) | Cambridge |
| Severe Hyperemesis Gravidarum (SHG) | Guy’s and St Thomas’ Hospitals |
| Stargardt Disease (STGD) – see IRD | Moorfields |
| Stem Cell and Myeloid Disorders (SMD) | Oxford |
| Steroid Resistant Nephrotic Syndrome (SRNS) | Guy’s and St Thomas’ Hospitals |
| Systemic sclerosis (SSc) | Leeds |
| Type 2 Diabetes in Children (Paed_T2D) | Birmingham |
| Uromodulin associated nephropathy (UKD) | Cambridge |
| Wolfram syndrome (Wolfram) | Birmingham |
Find out more
If you would like to find out further information about the NIHR BioResource, please click the link below, to find the person to direct your enquiries to.