The role of programmed axon death in neurological disease
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Project Title
Project Lead Project DateResearch projects for Neurology
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