Investigating the Role of Genetics in Disease Predisposition
Launched by THE WELLCOME SANGER INSTITUTE · Sep 2, 2024
Trial Information
Current as of June 26, 2025
Enrolling by invitation
Keywords
ClinConnect Summary
Predisposition to rare disorders and cancers can arise due to mutations (changes in DNA) of sperm cells from father and/or eggs from mother. De novo mutations are genetic alterations that are present for the first time in one family member as a result of a variant (or mutation) in a germ cell (egg or sperm) of one of the parents, or a variant that arises in the fertilized egg itself during early embryogenesis.
Current knowledge about how changes in the sperm and eggs of parents can be inherited by children, is based on genetic sequence analysis of blood from nuclear families. This involved...
Gender
ALL
Eligibility criteria
- Inclusion criteria:
- • Minimum of child affected with cancer pre-disposition syndromes and their father
- • Additional family members of consented father and child duos (Mother, same parent siblings, Maternal/Paternal Aunts, uncles and grandparents of affected child)
- • Reproductive tissue samples from both men and women affected by cancer collected with consent for use in research.
- • Reproductive tissue samples from both men and women unaffected by cancer collected with consent for use in research.
- Exclusion:
- • Fathers who do not wish to donate a semen sample or are unable to will be excluded from the study, as will their families
- • Fathers who have had a vasectomy will be excluded from the study as will their families
- • Adults who do not have the capacity to consent for themselves will be excluded from the study.
- • Families in which both parents do not have capacity to consent will also be excluded as they will be unable to give parental consent for their children's participation.
- • In order to be eligible siblings must share the same two parents as the affected child, all other siblings will be excluded from the study.
- • Male relatives in the extended family (Maternal/Paternal Aunts, uncles and grandparents of affected child) unwilling or unable to donate both a blood or saliva sample and a semen sample will be excluded from the study.
- • Participants who do not have a good understanding of the English language will be excluded from the study.
About The Wellcome Sanger Institute
The Wellcome Sanger Institute is a world-renowned genomics research center based in the UK, dedicated to advancing our understanding of human health and disease through cutting-edge genomic science. As a prominent sponsor of clinical trials, the institute leverages its expertise in genetics, bioinformatics, and large-scale data analysis to explore innovative therapeutic approaches and facilitate the translation of research findings into clinical applications. Committed to collaboration and excellence, the Wellcome Sanger Institute plays a pivotal role in the global biomedical research community, driving forward discoveries that have the potential to improve patient outcomes and transform healthcare practices.
Contacts
Jennifer Cobb
Immunology at National Institute of Allergy and Infectious Diseases (NIAID)
Locations
Cambridge, , United Kingdom
Patients applied
Trial Officials
Raheleh Rahbari
Principal Investigator
Wellcome Sanger Institute
Timeline
First submit
Trial launched
Trial updated
Estimated completion
Not reported