Rare disease projects

The BioResource works with partners to understand the genetic causes of rare diseases.

Rare Diseases projects are listed in alphabetical order in three categories: Open for recruitment; Coming soon; and Closed to recruitment. All groups are available for recall studies.

Each project in the BioResource - Rare Diseases study has it's own project specific recruitment criteria (inclusion/exclusion) which are available to view via the hyperlinks below for each open rare disease project.

Information on this page will be updated when projects open.  If you have any questions or would like to recruit to any of our projects please email rarediseases@bioresource.nihr.ac.uk 

Open for recruitment

Institution abbreviations are at the end of the Tables

Project Code

Rare disease project

Lead Institute

RDC-ACH

Achondroplasia and Hypochondroplasia

Newcastle

RDC-AAT

Alpha-1 Antitrypsin Deficiency

Birmingham

RDC-AOD

Aortic Dissection

Cambridge

RDC-AMC

Arthrogryposis

Birmingham

RDC-ATG

Ataxia Telangiectasia

Cambridge

RDC-AIH

Autoimmune Hepatitis

Newcastle

RDC-AIV

Autoimmune Vasculitis

Leeds

RDC-ADP

Autosomal Dominant Parkinson’s Disease

UCLH

RDC-BCR

Birdshot Chorioretinopathy

Moorfields

RDC-BPD

Bleeding, Thrombotic and Platelet Disorders

Cambridge

RDC-CSV

Cerebral Small Vessel Disease

Cambridge

RDC-CHG

CHARGE Syndrome

Birmingham

RDC-CRD

Chromatin Disorders

GSTT/Manchester

RDC-CIL

Ciliopathies – Bardet-Biedl and Alstrom Syndrome

UCLH

RDC-CHI

Congential Hyperinsulinism

Manchester

RDC-CTL

Cutaneous Lymphoma

Birmingham

RDC-DYS

Dystonia

UCLH

RDC-FIP

Familial Interstitial Pneumonia

Manchester

RDC-GCA

Giant Cell Arteritis

Leeds

RDC-HBP

Haemoglobinopathies

GSTT/UCLH

RDC-HCP

Haemophilia Centres Project (recruits through BPD)

See BPD

RDC-HAE

Hereditary Angioedema

Barts

RDC-HCD

Histiocytic Disorders

Newcastle

RDC-HXR

Hydroxychloroquine Retinopathy

Moorfields

RDC-IAN

IgA Nephropathy

Leicester

RDC-IMP

Imprinting Disorders Cohort

Southampton

 

Inheritable Factor XI Deficiency (recruits through BPD)

See BPD

RDC-ION

Inherited Optic Neuropathies

Cambridge/Moorfields

RDC-IRD

Inherited Retinal Dystrophy

Moorfields

RDC-ICP

Intrahepatic Cholestasis of Pregnancy

KCL/GSTT

RDC-JSC

Juvenile Systemic Sclerosis

Leeds

RDC-PMG

Membranoproliferative Glomerulonephritis and C3G

UCLH

RDC-MNP

Membranous Nephropathy

Manchester

RDC-ECT

Multiple Endocrine Neoplasia Type 1 and Pancreatic Neuroendocrine Tumours

Oxford

RDC-MMT

Multiple Primary Malignant Tumours

Cambridge

RDC-MSA

Multiple System Atrophy

UCLH

RDC-NRC

Narcolepsy – Type 1 and Type 2

GSTT

RDC-NF1

Neurofibromatosis Type 1

Manchester

RDC-NF2

Neurofibromatosis Type 2

Manchester

RDC-MGR

Non-Amyloid Monoclonal Gammopathy of Renal Significance

Birmingham

RDC-MAC

Ocular Maldevelopment: Microphthalmia, Anophthalmia and Ocular Coloboma

Moorfields

RDC-OCA

Oculocutaneous Albinism

Southampton

RDC-POD

Overgrowth Disorders

Birmingham

RDC-PND

Paediatric Neurodevelopmental Disorders

Cambridge

RDC-CKD

Pregnancy in Chronic Kidney Disease

GSTT/KCL

RDC-PBC

Primary Biliary Cirrhosis

Cambridge

RDC-PID

Primary Immunodeficiency

Cambridge

RDC-PSC

Primary Sclerosing Cholangitis

Birmingham

RDC-PSJ

Primary Sjogrens Syndrome

Newcastle

RDC-IND

Rare Inherited Neurological Disorders

Cambridge

RDC-BCA

Refractoriness First-line Treatment for Blood Cell Autoimmunity

Imperial/Leeds

RDC-SAP

SAPHO Syndrome (Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis)

Cambridge

RDC-SOD

Septo-optic Dysplasia

UCLH

RDC-SHG

Severe Hyperemesis Gravidarum

GSTT

RDC-SMD

Stem Cell and Myeloid Disorders

Oxford

RDC-SAD

Systemic Autoinflammatory Disorder – AODS and uSAID

Leeds

RDC-SSC

Systemic Sclerosis

Leeds

RDC-TTA

Transthyretin Amyloidosis

UCLH

RDC-TUS

Turner’s Syndrome

Manchester

RDC-PDC

Type 2 Diabetes in Children and Young Adults

Birmingham

RDC-WOL

Wolfram Syndrome

Birmingham

 

Coming soon

Institution abbreviations are at the end of the Tables

Project Code

Rare disease project

Lead Institute

RDC-ACS

Acute Coronary Syndromes: SCAD, CAE and FMD

Leicester

RDC-ABP

Alloimmune Blood Disorders of Pregnancy

Cambridge

RDC-CYS

Cystinosis

GSTT

RDC-MBD

Monogenic Beta-cell Diabetes

Exeter

RDC-PCD

Primary Ciliary Dyskinesia

Leeds

RDC-AND

Rare Autoimmune Neurological Disease

Cambridge

 

 

Renal Systemic Lupus Erythematosus

Recruitment through the IMID BioResource

RDC-RCM

Ring Chromosome Mutations

Patient group

 

Closed to recruitment

Institution abbreviations are at the end of the Tables

Project Code

Rare disease project

Lead Institute

AHU

Atypical Haemolytic Uraemic Syndrome

Newcastle

ATK

Autosomal Dominant Tubulointerstitial Kidney Diseases

Cambridge

EDS

Ehlers-Danlos Syndrome

Imperial

HCM

Hypertrophic Cardiomyopathy

Oxford

MM

Malignant Mesothelioma

GSTT

NPD

Neuropathic Pain Disorders

Oxford

NGC

Next Generation Children

Cambridge

PAH

Pulmonary Arterial Hypertension

Cambridge/Papworth

SPEED

Specialist Pathology: Evaluating Exomes in Diagnostics

Cambridge

SNS

Steroid Resistant Nephrotic Syndrome

GSTT

Abbreviations

GSTT: Guy's and St Thomas' NHS Foundation Trust

KCL: King's College London

Moorfields: Moorfields Eye Hospital NHS Foundation Trust

UCLH: University College London Hospitals NHS Foundation Trust

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