Since its founding in 2005, the Institute of Human Genetics has established a genetic testing for hereditary human disorders. With the growing number of disease-causing genes discovered and the development of high throughput technologies in sequencing and data analysis, the demand for diagnostic DNA testing is growing steadily and currently more than 1.000 families per year are seeking counselling and assistance at our Institute. This has generated a large collection of patient cohorts that offer an excellent basis for further clinical and diagnostic research. Specifically, our main focus has been on inherited retinal diseases and to a lesser extent on breast and ovarian cancer. With respect to the latter, we are regularly participating in national and international multi-center studies coordinated by the German consortium for Hereditary Breast and Ovarian Cancer. As for the clinically heterogenous group of inherited retinal dystrophies we increasingly extend the mutational spectrum for several disease entities including retinitis pigmentosa, Usher syndrome, vitelliform macular dystrophy or Stargardt disease. We have also identified several patients with mutations in genes that have as yet been linked only rarely with retinal disease, thus substantiating a disease association. In addition, we maintain a close relationship with various clinicians and research groups throughout Germany and worldwide to undertake large-scale studies for a better understanding of modifying genetic and non-genetic factors, genotype-phenotype correlations and, utmost, to aim for therapeutic interventions.
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- Brandl C, Schulz HL, Charbel Issa P, Birtel J, Bergholz R, Lange C, Dahlke C, Zobor D, Weber BHF, Stöhr H. Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions. Genes (Basel). 2017 Jun 23;8(7):170. doi: 10.3390/genes8070170