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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 Hearing and sight

The Genetic Causes of Cerebral Visual Impairment

Gene and Variant Discovery in inherited eye diseases

Exploring the landscape of metabolic disease gene variants in ophthalmic phenotypes

PRS analysis of early-onset and familial forms of macular degeneration

Analysis of Genomics England Data of Patients with Inherited retinal Degenerations

A study of haplotypic effects in inherited retinal disease

Novel genes involved in optic fissure closure

Beyond the exome: uncovering non-coding genomic variation as a source of missing heritability in inherited retinal disease

Unravelling the gene network regulating vertebrate eye formation in development and disease

Novel disease gene discovery in inherited retinal dystrophies

The NDP gene pathway in rare disease: Investigating the Genetics of Norrie Disease and Familial Exudative Vitreoretinopathy

Molecular genetics of Joubert syndrome

Hearing Loss Mouse-Human comparison

Identification and characterisation of genes and pathways involved in human developmental eye anomalies

scl12a2 associated neurodevelopmental disorder

Assessing the contribution of nuclear encoded mitochondrial genes to hearing loss in the 100,000 Genomes Project

The role of ALMS1 in human development and disease

Study of cilia and ciliopathy genes across the 100,000 GP cohort

Identification of novel genetic causes of ocular maldevelopment

Identifying novel causes of hearing loss

Hearing and sight research plan

Full details of the research proposed by this domain

Hearing and sight detailed research plan
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