Mission & Aims

Helmholtz Zentrum München belongs to the Helmholtz Association, a German research organization with 18 scientific-technical and medical-biological research centers spread throughout Germany. The organization is mainly funded by the federal government (90%)., the remainder is covered by the federal states.

Research at Helmholtz Zentrum München focuses on environmental health, investigating on how lifestyle, environmental factors and personal genetic background interfere with common diseases such as diabetes mellitus, chronic lung diseases, deficiencies of the immune system or neurodegenerative diseases. Helmholtz Zentrum München counts approx. 2.200 staff members.

The Institute of Human Genetics focuses on genomic medicine, addressing mainly cardiac, metabolic and mitochondrial disorders. Research, based on genome wide association studies (GWAS) as well as family studies, is dedicated to the identification and functional characterization of disease associated genes. To this end, mapping techniques like next generation sequencing, metabolomics and mouse models are being applied. Our aim is to contribute to novel treatment and prevention strategies for genetic disorders.



Relevant Publications

  • Kremer LS, […], Meitinger T, Prokisch H. (2017). Genetic diagnosis of Mendelian disorders via RNA sequencing. Nat Commun. 2017 Jun 12;8:15824. https://www.nature.com/articles/ncomms15824Across a variety of Mendelian disorders, ∼50–75% of patients do not receive a genetic diagnosis by exome sequencing indicating disease-causing variants in non-coding regions. With RNA sequencing, limitations of the sole genetic information can be complemented by directly probing variations in RNA abundance and in RNA sequence. This allows the molecular diagnosis of additional 10% (5 of 48) of mitochondriopathy patients and identify candidate genes for the remainder.
  • Mayosi BM, […], Meitinger T, Crotti L. (2017). Identification of Cadherin 2 (CDH2) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy. Circ Cardiovasc Genet. 2017 Apr;10(2). http://circgenetics.ahajournals.org/content/10/2/e001605.longNew data implicate CDH2 mutations as novel genetic causes of ARVC and contribute to a more complete identification of disease genes involved in cardiomyopathy.
  • Lin H, […], Meitinger T, Ellinor PT. (2016) Gene-gene Interaction Analyses for Atrial Fibrillation. Sci Rep. 2016 Nov 8;6:35371. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5099695/Studies on the effect of gene-gene interaction on Atrial fibrillation (AF) susceptibility did not show significant interaction.
  • Kolder IC, […], Meitinger T, Bezzina CR. (2015). Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2. Circ Cardiovasc Genet. 2015 Jun;8(3):447-56. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4770255/?report=readerNOS1AP SNPs have an unexpectedly large effect on the QTc-interval and presumably affect the risk of cardiac events.
  • Crotti L, […], Meitinger T, George AL Jr. (2013). Calmodulin mutations associated with recurrent cardiac arrest in infants. Circulation. 2013 Mar 5;127(9):1009-17. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3834768/Human calmodulin mutations disrupt calcium ion binding to the protein and are associated with a life-threatening condition in early infancy