Humangenetik am Hauner
Human genetics for children with rare diseases
Humangenetik am Hauner represents an interface between the treatment of young patients in the hospital and the innovative research here at the Comprehensive Childhood Research Center (CCRC).
The genetic cause of our patients' diseases here at the Dr. von Hauner Children's Hospital is investigated using state-of-the-art sequencing technologies. The resulting human genetic diagnoses are then incorporated into the treatment of the patients. In recent years, well over 5000 patient exomes have been sequenced and a definitive genetic explanation has been found for around 20% of patients. In addition, over a dozen new genetic diseases have been scientifically described for the first time through active translational research at the Hauner. The processes are organizationally bundled as human genetics at the Hauner and draw on the resources of patient care and technologies at the CCRC, including the laboratories, high-throughput sequencing and the bioinformatics infrastructure - all with the aim of helping children with rare diseases!
Humangenetik am Hauner has been accredited as a medical laboratory by the Deutsche Akkredidierungstelle (DAkkS) in accordance with DIN 15189 since 31.05.2024. The accreditation applies to the following scope of accreditation:
- Field of investigation: Human genetics (molecular human genetics)
- Type of examination: Molecular biological examination (amplification procedure): Whole Exome Sequencing (WES)
The importance of genomic medicine in medical care has now been widely recognized.
The Modellvorhaben Genomsequenzierung (MV GenomSeq) is the centerpiece of the National Strategy for Genomic Medicine and aims to integrate genomic medicine into German healthcare. In the Gesundheitsversorgungsweiterentwicklungsgesetz (GVWG) of 11.07.2021 (BGBl, 2754), a model project for comprehensive diagnostics and therapy finding using genome sequencing for rare as well as oncological diseases was legally anchored in §64e SGB V.
Goals and benefits:
- Early and precise diagnosis: Identification of genetic changes for better treatment.
- Personalized therapies: Treatments are specifically tailored to genetic characteristics.
- Scientific research: gaining new insights into the connection between genetic changes and diseases.
The Modellvorhaben started clinical application in 2024. It currently involves the cooperation of numerous service providers (more than 25 (university) clinics and medical centers organized in networks) as well as the Spitzenverband der Gesetzliche Krankenversicherungen (GKV-SV) as the funding body. The LMU Klinikum in Munich is one of the locations where rare and oncological diseases are specifically diagnosed, treated and researched using genome sequencing.
The platform of the Modellvorhabens Genomsequenzierung, which is operated by the Bundesinstitut für Arzneimittel und Medizinprodukte (BfArM) as the platform provider, also plays an important role. This makes clinical and genomic data available for both patient care and research. Data is made available on request and is subject to strict controls and meets the highest safety standards.
- Modellvorhaben Genomsequenzierung at the LMU Klinikum
- BfArM - Modellvorhaben Genomsequenzierung
- GKV-SV - Modellvorhaben Genomsequenzierung
- Service Specification of Humangenetik am Hauner
- Kinderklinik - Fach-& Arztinfos - Seltene Erkrankungen
- MZSE: Münchener Zentrum für seltene Erkrankungen des LMU Klinikums