Heiko Brennenstuhl
Research Group Leader, Genomic Newborn Screening
Institute of Human Genetics · Heidelberg University
Board-certified pediatrician and physician scientist leading a Research Group in genomic newborn screening at the Institute of Human Genetics, Heidelberg University. Trained in human genetics after a residency in general pediatrics and a postdoctoral fellowship in neurometabolic disease. Clinical and research stays across Germany, the United States, the United Kingdom, China, and Switzerland, including a DAAD-funded fellowship at Brown University. MBA in health care management and a medical degree from Tübingen.
Research Focus
Genomic Newborn Screening
Population-scale genomic screening for early detection of rare diseases in newborns. Evaluating clinical utility, implementation, and health system integration. Spokesperson for the GfH commission on genomic newborn screening.
Rare Disease Diagnostics
Shortening the diagnostic odyssey through WGS and multi-omics integration into clinical workflows. Focus on actionable findings and variant interpretation.
| Year | Title / Authors / Journal | Links |
|---|---|---|
| 2026 | Neonatologie – Die Medizin des Früh- und Reifgeborenen | DOI ↗ |
| 2026 | European journal of human genetics : EJHG | DOI ↗ PubMed ↗ |
| 2026 | Genetics in medicine open | DOI ↗ PubMed ↗ |
| 2026 | Langenbeck's archives of surgery | DOI ↗ PubMed ↗ |
| 2026 | Molecular genetics and metabolism | DOI ↗ PubMed ↗ |