Rare disease projects

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.