Prof. Dr. Jörg T. Epplen, Human Genetics, Faculty of Medicine

Jörg Epplen

Research Programme:

The department concentrates on decoding genetic predisposition and protection factors in neurogenetic and multifactorial disorders, where several to many genes plus environmental contributions are necessary for the precipitation of symptoms of illness. Monogenic model disorders comprise besides Chorea Huntington (Huntington center NRW together with Neurology, St. Josef Hospital Bochum) and other trinucleotide repeat expansion diseases mainly the many different forms of familial spastic paraplegias (spastic spinal paralysis).

In addition to common neurological diseases like multiple sclerosis and narcolepsy the complex genetics of rheumatoid arthritis and immune vasculitides (like Wegener granulomatosis), Asthma bronchiale and chronic obstructive pulmonary disease are also covered in research projects, as are hereditary forms of colon cancer. Heretofore genome screening and scanning approaches are developed and applied as well as plenty of veritable candidate genes are investigated for their meaning for the respective disease.

These projects are embedded in transregionally promoted research nets.