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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 Musculoskeletal

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

Investigating the genetics of Ehlers-Danlos Syndromes (EDS)

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

Analysis of biallelic variation in the PTCH1 gene

Using 100KGP data to gain a better understanding of genetic landscape of unexplained skeletal disorders.

Genomic and phenotypic analysis of GeL data in patients with rare disease and their relatives

An audit of WGS-based clinical molecular genetic diagnoses in craniosynostosis

Investigation of the genetic basis of radial dysplasia

Analysis of FBXL19 variants

M.E.D - new candidate genes

Identification of disease related variants in non-coding regulatory regions.

Mapping the diagnostic and clinical pathways of patients with craniosynostosis and estimating associated health care resource use

Phenotype associated with biallelic loss of function variants in a novel candidate gene

Copy number variations involving ERF gene

Phenotype associated with SOX6 variants

Investigating coding and non-coding variants in patients with syndromic or non-syndromic cleft lip or palate

Molecular Genetics of Craniosynostosis

Elucidating the underlying mechanisms of CTEV

Identification of MYH8 gene in camptodactyly

Disorders of calcium sensing and homeostasis, and related disorders associated with musculo-skeletal and neurological phenotypes

Musculoskeletal research plan

Full details of the research proposed by this domain

Musculoskeletal detailed research plan

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