Street / P.O. Box	Geert Grooteplein 10, 656
Zip code	6525 GA
City	Nijmegen
Country	The Netherlands
E-Mail	S.Timal-Stevenson@labgk.umcn.nl
Phone number(s)	+31 (0)24 3613986
Website(s)	-

"In january 2011, I started as a phD student on my project entitled "functional mapping of whole exome data in metabolic disease". I focus on glycosylation and mitochondrial disorders, two heterogenic and recessive metabolic diseases. Until now, diagnosis heavily depended on series of biochemical methods and follow-up sanger sequencing. As some cases could not be solved in this way, we believe that disease gene identification will be accelerated by next generation sequencing.
In this project, we aim for new diagnosis strategies by integrating next generation sequencing with functional models.” "

Functional mapping of whole-exome data in metabolic disease