Rare Diseases: Help from Human Genetics / Podcast
The episode focused on an extraordinary case history published in the journal Brain in 2021 (DOI: 10.1093/brain/awaa420). In addition to scientific perspectives, the patient and her mother also share their experiences.
In the WDR report, Prof. Wirth referred to the Genome Model Project and emphasized the advantages of modern genome diagnostics, particularly for swiftly and accurately diagnosing rare diseases. Around 80 percent of rare diseases can be traced back to a genetic cause, although this is not always the case. This can be a change in a single gene or a combination of genetic factors and external influences.
The Institute of Human Genetics is part of the Center for Rare Diseases (CESEK), an interdisciplinary institution at the University Hospital of Cologne. CESEK aims to improve medical care for people with rare diseases by connecting patients, caregivers, and scientists.
- Learn more about Professor Dr. Brunhilde Wirth
- Link to WDR report / Podcast
This message has been modified by the CMMC (K. Heber & D. Grosskopf-Kroiher) and is based on the text by the press and communications team of the University Hospital Cologne (original German version here).