Geneticists
Medical genetics laboratories are responsible for NCL diagnostics. Medical geneticists also give parents the counselling they need. That is why these doctors have to know about the hereditary disease NCL.
Diploid chromosome set:
In juvenile NCL patients there is a DNA mutation on chromosome 16.
(Source: http://www.uni-regensburg.de)
Therefore an appropriate NCL information sheet was sent to all medical geneticists.
At http://www.gfhev.de/de/beratungsstellen/beratungsstellen.php there is a complete list of genetic counselling centres.
At the 24th Meeting of North German Medical Geneticists taking place on 12 November 2005, approx. 100 participants listened to talks on such topics as "Clinical genetics and molecular genetics". The NCL Foundation was able to present a talk at this meeting titled: "NCL Foundation: introduction to a new concept for treatment of the rare childhood disease NCL". This provided an opportunity to inform more experts in the field of medical genetics about NCL.
