Rare disease projects

The rare disease projects that are currently running are shown in the table below, however they are not all yet open for recruitment. Information about the open projects is available to view via the links below.

We expect this list to grow, as up to 100 rare diseases projects begin recruiting. If you have any questions about these projects, or wish to recruit to a project, 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
Achondroplasia and Hypochondroplasia – not yet open
Alpha-1 Antitrypsin Deficiency (AATD) Birmingham
Arthrogryposis (AMC) Birmingham
Atypical Haemolytic Uraemic Syndrome (AHUS) – not yet open Newcastle
Autoimmune Hepatitis (AIH) Newcastle
Autosomal Dominant Parkinson’s Disease (ADP) – not yet open University College London Hospitals
Autosomal Dominant Tubulointerstitial Kidney Disease (ADTK) – not yet open Cambridge
Birdshot Chorioretinopathy – not yet open
Bleeding and Platelet Disorders (BPD) – not yet open Cambridge
Cerebral Small Vessel Disease (CSVD) – not yet open Cambridge
CHARGE Syndrome – not yet open
Ciliopathies – Bardet-Biedl and Alstrom Syndrome (BBSAS) University College London Hospitals
Congenital Hyperinsulinism (CHI) Manchester
Cutaneous Lymphoma (CTCL) Birmingham
Dystonia (Dystonia) – not yet open University College London Hospitals
Ehlers-Danlos Syndrome (EDS) – no longer recruiting
Familial Interstitial Pneumonia – not yet open
Giant Cell Arteritis – not yet open
Histiocytic Disorders – not yet open
Hypertrophic Cardiomyopathy (HCM) – no longer recruiting
IgA Nephropathy (IgA N) Leicester
Imprinting Disorders Cohort (IMP) Southampton
Inheritable Factor XI Deficiency (Factor XI) – recruits through BPD – Haemophilia Centre Project University College London Hospitals
Inherited Optic Neuropathies (ION) Cambridge / Moorfields
Inherited Retinal Dystrophy (IRD) Moorfields
Intrahepatic Cholestasis of Pregnancy (ICP) – not yet open KCL / Guy’s and St Thomas’ Hospitals
Malignant Mesothelioma (MM) – no longer recruiting
Membranoproliferative Glomerulonephritis and
C3 Glomerulopathy (MPGN/C3G)
University College London Hospitals
Multiple Endocrine Neoplasia Type 1 and
Pancreatic Neuroendocrine Tumours (MEN1)
Oxford
Multiple Primary Malignant Tumours (MPMT) Cambridge
Multiple System Atrophy (MSA) – not yet open University College London Hospitals
Narcolepsy – Type 1 and Type 2 – not yet open
Neuropathic Pain Disorder (NPD) – no longer recruiting
Neurofibromatosis Type 1 (NF1) Manchester
Neurofibromatosis Type 2 (NF2) Manchester
Ocular Maldevelopment: Microphthalmia, Anophthalmia and Ocular Coloboma (MAC) Moorfields
Overgrowth Disorders – Phenotyping (POD) Birmingham
Paediatric Neurodevelopmental Disorders (PNDD) – not yet open Cambridge
Pregnancy in Chronic Kidney Disease (P_CKD) – not yet open KCL
Primary Biliary Cirrhosis (PBC) – not yet open Cambridge
Primary Immunodeficiency (PID) Cambridge
Primary Sclerosing Cholangitis (PSC) Birmingham
Primary Sjogrens Syndrome (PSJ) Newcastle
Pulmonary Arterial Hypertension – idiopathic and heritable (PAH) – not yet open Cambridge / Papworth
Rare Inherited Neurological Disorders (RIND) Cambridge
Renal Systemic Lupus Erythematosus – not yet open
SAPHO Syndrome (Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis) (SAPHO) Cambridge
Septo-optic Dysplasia – not yet open
Severe Hyperemesis Gravidarum (SHG) – not yet open Guy’s and St Thomas’ Hospitals
Spontaneous coronary artery dissection, coronary artery ectasia and fibromuscular dysplasia (SCAD) – not yet open Leicester
Stem Cell and Myeloid Disorders (SMD) – not yet open Oxford
Steroid Resistant Nephrotic Syndrome (SRNS) – not yet open Guy’s and St Thomas’ Hospitals
Systemic Autoinflammatory Disorders – AOSD and uSAID (SAD) Leeds
Systemic Sclerosis (SSC) Leeds
Turner’s Syndrome – not yet open
Type 2 Diabetes in Children and young adults (Paed_T2D) Birmingham
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.