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Investigating the Role of Genetics in Disease Predisposition

NCT06584994 · Status: ENROLLING_BY_INVITATION · Type: OBSERVATIONAL · Enrollment: 1000

Last updated 2024-09-05

No results posted yet for this study

Summary

Gametogenesis is the production of sperm and eggs; it takes place through the process of meiosis. Gametogenesis is subject to the acquisition of mutations as with other processes in the body. Many of these mutations are somatic, meaning that they occur during life as part of the process of cell division rather than being passed down from parents. When somatic mutations take place during gametogenesis, there is the potential for hereditary genetic consequences. However, the processes that cause the mutations during gametogenesis and the implications they have for heritability and disease predisposition are poorly understood.

The goal of this research is to provide a detailed description of the genetic changes in gonadal tissues, and to understand how mutations acquired during the production of germ cells (sperm and eggs) contribute to the predisposition to a wide range of rare diseases and cancer predisposition in future offspring.

Conditions

  • Predisposition, Genetic
  • Cancer
  • Mutation
  • Fertility Disorders

Interventions

OTHER

sample collection

Collection of blood, skin, semen, urine and/or saliva samples. Access to previously collected tissue samples (if applicable).

Sponsors & Collaborators

  • The Wellcome Sanger Institute

    lead OTHER

Principal Investigators

  • Raheleh Rahbari · Wellcome Sanger Institute

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2021-06-20
Primary Completion
2027-03-01
Completion
2027-03-01

Countries

  • United Kingdom

Study Locations

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Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06584994 on ClinicalTrials.gov