Rare Disease Studies

Open Studies

NIHR BioResource Long Read Study
Imprinting Disorders: Finding out Why (IDFOW)
Impact of copy number variants on cortical network dynamics (CONVERGE)
Investigating the molecular mechanisms of rare genetic disorders (Jules Thorn 2)
Analysis of genes and their functions in primary lymphoedema (LymRes)
- HumGenDis – Molecular pathology of human genetic disease
  - Beckwith-Wiedemann Syndrome
  - Silver-Russell Syndrome
Genetic disorders of growth, development and the brain
PURA syndrome Longitudinal Natural History Study
Speech, language and communication abilities in genetic conditions
Splicing and disease
Disorders of the RAS MAPK pathway
Phenotyping of rare overgrowth disorders study (POD)
Genetics of Overgrowth Intellectual Disability Syndromes (OGID)
Early development in Neurofibromatosis Type 1 (EDEN)
Extremely Early-onset Tyle 1 Diabetes (EXE-T1D)
Genetic disorders of human neurological and immune function
Genetic and Biochemical Investigation of children with symptoms suspicious for an inherited metabolic disease
Genetics of Perrault Syndrome
A prospective natural history study to enhance understanding of the phenotypes associated with a type 1 interferonopathies

Closed Studies

IMAGINE ID – Intellectual Disability and Mental Health: Assessing Genomic Impact on Neurodevelopment

IMAGINE ID was a research study that aimed to increase our understanding of learning and behavioural development in children and young people with rare genetic conditions.

If you were involved in the IMAGINE ID and would like to follow the progress of the study, you can add them on there IMAGINE ID Facebook Page or follow them on X @imagineidnews for updates.

You can see more general information about research at Leeds Teaching Hospitals Trust in the Research Section of this website.