R&D Reference Number Project Short title Project Full title Recruitment end date
1502057 Experiences of People with Copy Number Variants Experiences of People with Copy Number Variants 31/07/2018
1506109 A randomised double blind dose non-inferiority trial of aspirin in Lynch syndrome A randomised double blind dose non-inferiority trial of a daily dose of 600mg versus 300mg versus 100mg of enteric coated aspirin as a cancer preventive in carriers of a germline pathological mismatch repair gene defect, Lynch Syndrome. Project 3 in the Cancer Prevention Programme (CaPP3). 31/08/2018
1609304 Genetic mechanisms in polyposis of the bowel Genetic mechanisms in polyposis of the bowel 31/08/2018
1118524 (EUROPAC) 2 Antioxidants and Magnesium in chronic pancreatitis European Registry of Hereditary Pancreatitis and Pancreatic Cancer (EUROPAC) 2 trial to investigate the efficacy of antioxidants and magnesium for the treatment of Hereditary Pancreatitis and Idiopathic Chronic Pancreatitis 30/09/2018
1801554 BOLT Biomarkers of Lynch-Syndrome Tumours (BOLT) 30/09/2018
2002/11/205 CORGI CORGI – The Genetic Study of Colorectal Cancer Families without known inherited predispositions 30/09/2018
1412028 INSIGNIA: Exploring mutational signatures in humans Exploring the biological processes underlying mutational signatures identified in patients with inherited disorders and in patients exposed to mutagens (INSIGNIA) 31/12/2018
1508124 Genetic basis of craniofacial malformations Genetic basis of craniofacial malformations 31/01/2019
1701360 Lymres Analysis of genes and their functions in patients with primary lymphoedema 31/01/2019
1504084 GENPROS GENPROS: Analysing outcomes after prostate cancer diagnosis and treatment in carriers of rare germline mutation in cancer predisposition genes 01/02/2019
1701357 POD Study. Phenotyping of rare genetic overgrowth disorders. 28/02/2019
306065 Familial Gastric Cancer Study Familial Gastric Cancer Study 31/03/2019
1507111 IMAGINE. Intellectual Disability and Mental Health: Assessing Genomic Impact on Neurodevelopment. 30/08/2019
1612341 Genes and the Kidney in Tuberous Sclerosis A study of the natural history of renal disease in TSC2/PKD1 contiguous gene deletion syndrome 31/08/2019
1701368 Genetics of Perrault Syndrome Genetics of Perrault Syndrome (hearing loss and ovarian insufficiency) 30/09/2019
1701371 Understanding the conditions of the RAS-MAPK pathway: version 1 Defining the clinical phenotypes associated with mutations causing dysfunction of the RAS-MAPK pathway 31/12/2019
1607274 A study of movement disorders in adults with 22q11 deletion syndrome A study of movement disorders in adults with 22q11 deletion (Di George syndrome) 01/01/2020
1504073 Structural Brain Abnormalities and Learning Disability Structural Brain Abnormalities and Learning Disability 31/03/2020
1506104 Phenotypes in Intellectual Disability Neuroanatomical, Cognitive and Behavioural Phenotypes in Intellectual Disability of Genetic Origin 31/03/2020
1607277 ARCI Genotype-phenotype correlation in autosomal recessive congenital ichthyosis (ARCI) 21/09/2020
1812737 BUILD: BAF complex & related genes underlying intellectual disability BUILD study: Defining the clinical and molecular phenotypes associated with mutations in the BAF swi/snf complex genes underlying intellectual disability 01/10/2020
1306796 FACT study FACT study – Factors associated with Childhood Tumours Study 03/12/2020
1707459 The SCOTTY Study The SCOTTY Study – whole genome sequencing study of young colon cancer patients and their parents 31/05/2021
2000/8/122 EMBRACE Epidemiological study of BRCA1 and BRCA2 mutation carriers 31/01/2022
1202603 HumGenDis Molecular pathology of human genetic disease 31/03/2022
1606259 Splicing and Disease Splicing and Disease 30/11/2022
1701369 Genetic disorders of growth, development and the brain Genetic disorders of growth, development and the brain 31/03/2023
1210707 COG – Clinical and Molecular Analyses of Childhood Overgrowth COG – Clinical and Molecular Analyses of Childhood Overgrowth 01/01/2025
1607276 Study of rare cutaneous lichenoid, alopecic and scarring variants Genotype-phenotype correlation in rare lichenoid and scarring dermatoses and rare alopecias 01/09/2025
1804576 CORGI 2 The Identification and characterisation of Inherited Predispositions to Colorectal Tumours (CORGI) 2 01/04/2027