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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 Neurology

The role of programmed axon death in neurological disease

Genotype and phenotype of intellectual disability in adults

Thorough investigation of whole-genome data for clinical case study diagnosis

De novo variants identification in epilepsy patients

Neuroimmunological disorders in early-onset degeneration via defective autophagy, proteostasis, and genome stability

Genome-wide analysis of tandem repeat expansion in neurological disorders

Regulatory variants in mitochondrial disease

Gene and Variant Discovery in inherited eye diseases

Discovery and validation of novel inherited neurodevelopmental disease genes.

Deciphering the phenotypic and genetic spectrum of unclassified mitochondrial diseases

Role of Infections and autoimmune disorders in Schizophrenia and associated genetic determinants in HLA genes

Investigating effect of non-coding and regulatory variants in rare disease cases in 100,000 Genomes Project

Assessing the genetic contribution to disease heterogeneity in selected neurological diseases.

Expanding the genotype and phenotype of disorders associated with manganese dyshomeostasis

Searching for novel genes in neurodevelopmental disorders

Trans-acting genetic factors associated with CAG repeat expansion size

Expanded repeats in ataxia and hereditary spastic paraplegia

Meta-analysis of de novo variants in genes associated with early-onset neurodevelopmental and psychiatric disorders

The genetics of inherited neuropathy

Motor proteins, their tracks and associated adaptor proteins linked to human disease

Neurology research plan

Full details of the research proposed by this domain

Neurology detailed research plan

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