Maja Hempel

Prof. Maja Hempel is a Professor of Medical Genetics at the Medical Faculty of Heidelberg University and leads the Genetic Outpatient Clinic at Heidelberg University Hospital (UKHD). She is also Deputy Medical Director of the Institute of Human Genetics. Her research focuses on identifying monogenic causes of rare diseases, translating genomic technologies into clinical care, and developing new therapies. She actively contributes to health services research for rare disease patients and advocates for genomic newborn screening.

• Education/Career:
  • MD (1995–1999), Technical University of Munich
  • Pediatrics residency in German hospitals (pre-1996)
  • Genetic Medicine Fellowship, Technical University of Munich (2000–2006)
  • Professor of Human Genetics since 2021
• Key Projects:
  • DeDup15q: Investigating Dup15q syndrome (2024–2026)
  • Leader of mitoNET Hamburg Center (2013–2021), a national network for mitochondrial diseases
  • MRnet: Genetic causes of intellectual disability in children (2006–2010)
• Affiliations:
  • Member, German Society for Human Genetics
  • Member, European Society of Human Genetics
  • Member, Bioethics Council of EMBL

Her work bridges clinical practice and research, emphasizing ethical considerations in genomic medicine and interdisciplinary collaboration.