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Academic research community (GECIP)

Academics, clinicians, and students worldwide can join our research community, the Genomics England Clinical Interpretations Partnership (GECIP, for short).

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Research projects by domain

Select from the domains and explore our active research projects.

Research projects for Paediatrics

The role of programmed axon death in neurological disease

The Genetic Causes of Cerebral Visual Impairment

Investigating the genetics of Ehlers-Danlos Syndromes (EDS)

Gene and Variant Discovery in inherited eye diseases

Discovery and validation of novel inherited neurodevelopmental disease genes.

Expanding the genotype and phenotype of disorders associated with manganese dyshomeostasis

A Meta-analysis of GEL and DDD Developmental Disorders

Searching for novel genes in neurodevelopmental disorders

Identifying additional genomic variants within the promoter region of the TXNL4A gene associated with the spliceosomal developmental disorder Burn-McKeown syndrome.

Effects of endogamy versus consanguinity on risk of rare disorders

EIF5pathies

Investigation of variants incidence and pathological correlation to FSGS and proteinuric kidney diseases

Contribution of Structural and Copy number variants to Rare Disease Diagnoses

Extending ultra-rare diagnoses from the Welsh 100,000 genome cohort

Novel genes involved in optic fissure closure

Are YY1 interactors associated with neurodevelopmental disorders?

Characterizing the phenotype associated with HDAC2 variants

SATB1 related disorder

Genetic Analysis of Childhood and Adult Ataxias

Solving neuromuscular disorders with new bioinformatic approaches

Paediatrics research plan

Full details of the research proposed by this domain

Paediatrics detailed research plan
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