Rare disease projects

Rare Diseases projects are listed in alphabetical order in three categories:

Open for recruitment
Coming soon
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-BCR	Birdshot Chorioretinopathy	Moorfields
RDC-BPD	Bleeding, Thrombotic and Platelet Disorders	Bristol/Imperial
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-CFT	Cystic Fibrosis	Papworth (Cambridge) / Manchester
RDC-CYS	Cystinosis	GSTT
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	Imperial
RDC-JSC	Juvenile Systemic Sclerosis	Leeds
RDC-PMG	Membranoproliferative Glomerulonephritis and C3G	UCLH
RDC-MNP	Membranous Nephropathy	Manchester
RDC-MBD	Monogenic Beta-cell Diabetes	Exeter
RDC-ECT	Multiple Endocrine Neoplasia Type 1 and Pancreatic Neuroendocrine Tumours	Oxford
RDC-MMT	Multiple Primary Malignant Tumours	Cambridge
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-PCD	Primary Ciliary Dyskinesia	Leeds
RDC-PID	Primary Immunodeficiency	Cambridge
RDC-PSC	Primary Sclerosing Cholangitis	Birmingham
RDC-PSJ	Primary Sjogrens Syndrome	Newcastle
RDC-AND	Rare Autoimmune Neurological Disease	Cambridge
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	Imperial
RDC-SMD	Stem Cell and Myeloid Disorders	Oxford
RDC-SAD	Systemic Autoinflammatory Disorder – AODS and uSAID	Leeds
RDC-SSC	Systemic Sclerosis	Manchester
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-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
RDC-ABP	Alloimmune Blood Disorders of Pregnancy	Cambridge
RDC-AHU	Atypical Haemolytic Uraemic Syndrome	Newcastle
RDC-ATK	Autosomal Dominant Tubulointerstitial Kidney Disease	Cambridge
RDC-ADP	Autosomal Dominant Parkinson’s Disease	UCLH
RDC-DYS	Dystonia	UCLH
RDC-EDS	Ehlers-Danlos Syndrome	Imperial
RDC-HCM	Hypertrophic Cardiomyopathy	Oxford
RDC-MM	Malignant Mesothelioma	GSTT
RDC-MSA	Multiple System Atrophy	UCLH
RDC-NPD	Neuropathic Pain Disorders	Oxford
RDC-NGC	Next Generation Children	Cambridge
RDC-PAH	Pulmonary Arterial Hypertension	Cambridge/Papworth
RDC-SPEED	Specialist Pathology: Evaluating Exomes in Diagnostics	Cambridge
RDC-SNS	Steroid Resistant Nephrotic Syndrome	GSTT
	Renal Systemic Lupus Erythematosus	Recruitment through the IMID BioResource

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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