• Subproject 1
  Prof. Dr. med. E. Zrenner
• Subproject 2
  Prof Dr. med., Dipl.-Ing. Mathias W. Seeliger
  Dr. rer. nat Regine Mühlfriedel
  Prof. Dr. rer. nat. Uwe Wolfrum
• Subproject 3
  Prof. Dr. rer. nat. Bernhard Weber
• Subproject 4
  Prof. Dr. rer. nat Bernd Wissinger
  (Principal Investigator)
  Dr. rer. nat. Susanne Kohl
• Subproject 5
  Dr. rer. nat. Marius Ueffing
  Dr. rer. nat. Stefanie Hauck
• Subproject 6
  Dr. Christine Wallrapp
• Subproject 7
  Dr. rer. nat. Thomas H. Wheeler-Schilling,
  Franz Badura

Integrating Clinical Diagnostics and Molecular Genetics Testing in hereditary retinal dystrophies

• Prof. Dr. rer. nat. Bernhard Weber (Principal Investigator)
  University of Regensburg, Institute of Human Genetics, Germany
  http://www-huge.uni-regensburg.de/Mitarbeiter/Bernhard_Weber/Bernhard_Weber.shtml

Objective

• To establish a first national network of centers of competence for the high-end clinical management of patients afflicted with HRD.
• To hereby combine clinical diagnosis and state-of-the-art molecular genetics testing by vigorously pursuing quality-assured integration of excellence.

Summary

A hallmark of hereditary retinal degenerations (HRD) is their striking genetic heterogeneity with a single phenotype caused by mutations in different genes and, vice versa, mutations in a single gene causing strikingly diverse clinical phenotypes. This makes genetic testing in HRD complex and cost intensive. Nevertheless, the availability of genetic testing in HRD is an integral part of clinical diagnosis and is indispensable in modern patient management.
Addressing this situation, we have generated one of the first high-throughput resequencing arrays for DNA testing (RetChip v1.0), permitting simultaneous analysis of 72 HRD genes. Hereby, a quality-controlled multiplexing strategy reduced the number of required DNA amplification demonstrated the urgent need for sophisticated software to cope with data complexity. An as yet largely unsolved problem concerns validation of DNA variants with unclear pathogenicity.
For the new funding period we will build upon our established expertise in high-throughput DNA testing and will further pursue a centralized diagnostics facility for HRD by exploiting the high-end platform of next generation sequencing. This technology promises flexibility, minimized hands-on time, highly automated and streamlined workflow, and the availability of highly sophisticated data analysis software. This, together with a network of specialized clinical centres for counselling and clinical assessment provides a state-of-the-art basis for optimized and standardized patient care.