The Institute of Human Genetics was founded on January 3rd 1999 upon the appointment of Prof. Dr. med. Klaus Zerres to the chair of human genetics.
The Institute of the medical faculty of the RWTH Aachen is assigned to the area of teaching and research as well as patient care.
With the foundation of our institute, three departments were established:
- genetic counselling department
- pre- and postnatal cytogenetics laboratory
- molecular genetics laboratory
In our Institute we perform genetic counselling, genetic consultation of stationary patients and interdisciplinary collaborations and meetings. We support specific cooperations with the local Paediatric Clinic (neuropaediatric-neuropathologic- genetic conferences, social paediatric and genetic consultations), with the Neurology Clinic, the Institute of Neuropathology (Muscle Centre Northrhine: Meetings for neuromuscular patients with colleagues of the University of Maastricht and the local Neurology Clinic, Paediatric Clinic and Institute of Neuropathology), the Clinic for Gynaecology (in association with the breast centre; prenatal medicine) and the Ophthalmology Clinic (interdisciplinary counseling of families affected by genetic eye diseases).
The spectrum of genetic counseling covers mostly highly complex questions from all areas of clinical genetics. The close proximity to more than 34 hospitals and more than 25 institutes under the auspices of the University Hospital RWTH Aachen offers excellent conditions for close cooperation and ideal working circumstances for applied human genetics, which has led to a variety of joint projects and publications with different facilities.
Our methodic spectrum covers all techniques of conventional cytogenetics in pre- and postnatal diagnostic as well as methods of molecular cytogenetics (fluorescence-in-situ-hybridization and characterization of (micro-) aberrations, subtelomeric screening and Reverse (Micro-)FISH, as part of a former project)
Parallel to the relocation of the „Cystic Kidneys Working Group“ from Bonn to Aachen in the year 1999 the area of molecular diagnostics was systematically established.
In addition to diagnostics concerning mucoviscidosis/ cystic fibrosis and fragile-X syndrome, we largely perform genetic testing focused on those diseases which are in the scientific focus of the Institute of Human Genetics. These are primarily our central research areas with regard to cystic kidney diseases/ ciliopathies (Dr. rer. medic. Nadina Ortiz-Bruechle, Prof. Dr. med. Klaus Zerres), neuromuscular disorders (Prof. Dr. med. Sabine Rudnik-Schöneborn, Prof. Dr. med. Klaus Zerres) and the (epi-)genetics of growth disorders as well as imprinting disorders (Prof. Dr. rer. nat. Thomas Eggermann). Furthermore, the genetic analysis of thrombophilia for patients at the University Hospital RWTH Aachen was relocated from the Institute of Clinical Chemistry and Pathobiochemistry into the molecular genetics laboratory of the Institute of Human Genetics. The methodological spectrum comprises the traditional molecular techniques such as PCR, electrophoresis, Southern blot, fragment analysis, RNA analysis, real-time PCR, sequencing as well as pyrosequencing, SNP array analysis, and next generation sequencing.
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