Functional genetics in male congenital malformations (A03)

• Subject Area: Human Genetics ; General Genetics and Functional Genome Biology
• Term: since 2026
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 549467913

The risk for infertility and testicular cancer is significantly increased in males with faulty testicular decent (termed cryptorchidism), which is controlled by testosterone released by testicular Leydig cells. To unravel the mechanisms underlying this common male congenital malformation, this project combines clinical and genetic data. Functional genomics will be applied to assess the impact of candidate genes and testosterone level-associated variants identified in affected patients. In vitro screening approaches will be used to test the function of candidate genes in Leydig cells. This will improve diagnostics and targeted interventions for affected individuals.

• DFG Programme: Collaborative Research Centres
• Subproject of: SFB 1748: Principles of Reproduction – Unravelling the Molecular Mechanisms of Male Infertility
• Applicant Institution: Universität Münster
• Project Heads: Alexander S. Busch, Ph.D.; Professor Dr. Michael J. Ziller