Hintergrundbild

uni.news

First discover the disorder and then find the patients

Published on 5. Januar 2018

Bielefeld biochemists confirm cause of initially unclear symptoms 

Der Biochemiker Prof. Dr. Thomas Dierks forscht zu Erbkrankheiten und Therapie-Konzepten, wobei defekte Enzyme und deren Ersatz im Mittelpunkt stehen. Foto: Universität Bielefeld
The sequencing of the human genome has made it possible: nowadays scientists can discover potential disorders for which there are no known patients. Such a disorder is ‘MPS III-E’, originally also called ‘Dierks’s disorder’ after its discoverer. Doctors at the Hadassah-Hebrew University Medical Center in Jerusalem (Israel) found consistent symptoms of progressive blindness in three patient families that indicated the presence of a previously unknown genetic defect. Genome analyses at the University of Lausanne (Switzerland) delivered a candidate gene on which Professor Dr. Thomas Dierks from Bielefeld University had already published a research article in 2012. Studies by Dierks’ research team now revealed that these patients indeed suffer from ‘MPS III-E’.  The researchers are now presenting their analysis in the journal ‘Genetics in Medicine’, published by the Nature Publishing Group.

 

[Weiterlesen]
Posted by JHeeren in General
Tags: homepage

Calendar

« Januar 2018
MoDiMiDoFrSaSo
1
3
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
    
       
Heute

Contact

Universität Bielefeld
Medien & News
Postfach 10 01 31
33501 Bielefeld

E-Mail:
medien@uni-bielefeld.de

Homepage Medien & News

Newsfeeds