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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 Endocrine and metabolism

Metabolic disease gene discovery through integrated analysis of mouse and human data

Exploring the landscape of metabolic disease gene variants in ophthalmic phenotypes

Estimating effect of heterozygous pathogenic mutation in CYP21A2causing recessive congenital adrenal hyperplasia in the Genomics England Cohort

The genetics of intrahepatic cholestasis of pregnancy

Expanding the genotype and phenotype of disorders associated with manganese dyshomeostasis

Understanding the genetics of Hypophosphatasia (HPP) within Genomics England

Identification of novel genetic causes of congenital hyperinsulinemic hypoglycemia

Genetic variants in kidney stone disease

Identification of novel genetic causes of childhood growth failure

Genetic Evaluation aids Diagnosis in Adolescent Patients with Delayed Puberty

Solving neuromuscular disorders with new bioinformatic approaches

Kidney injury development with COVID-19

Rare variants in severe obesity, syndromic obesity and related phenotypes.

Population burden of variants in melanocortin 4 receptor pathway-related obesity

Inherited Disorders of Cholesterol Metabolism

Discovery of maternal PKU cases using trio genotyping data from Genomics England

Resistance to thyroid hormone alpha

N ovel genetic causes of ketotic hypoglycaemia

Genetic Determinants of Adipose Resilience and Topography

Discovery of novel variants underlying monogenic diabetes

Endocrine and metabolism research plan

Full details of the research proposed by this domain

Endocrine and metabolism detailed research plan
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