Genetics: “We try to simplify diagnosis for rare diseases“ -- MEDICA Trade Fair

Genetics: “We try to simplify diagnosis for rare diseases“

Interview with Dr. Peter N. Robinson, Institute for Medical Genetics, Charité University Hospital Berlin

Sometimes your TV is actually right and diagnosing an illness is really a puzzle. This is the case with rare diseases for example, which only affect a small portion of the population. Physicians are then confronted with the problem of not having enough experience with a specific illness and its symptoms to be able to make a diagnosis.

11/10/2014

Photo: Gold piece surrounded by black ones

Orphan diseases affect only very few people; © panthermedia.net/Juergen Priewe

Photo: Puzzle in pieces, a stethoscope lying on top

Looking for the right diagnosis can sometimes be like solving a puzzle for the physicians involved. "PhenIX" helps them to put the pieces together; © panthermedia.net/Matthew Benoit

Photo: Cotton swap and speciman cup on a print out

Using a specimen from the patient, "PhenIX" makes suggestions about genes that possibly cause the disease; © panthermedia.net/Thomas Simon

Photo: Timo Roth; Copyright: B. Frommann

© B. Frommann