OUR STORY

GENE DISCOVERY - WDR45

In December 2012, in the American Journal of Human Genetics, Dr. Tobias Haack of Helmholtz Zentrum München, a German research institution in cooperation with the laboratories of Dr. Susan Hayflick at the Oregon Health & Science University, published a paper which identified a gene WDR45. Through the use of whole exome sequence testing, scientists were able to identify WDR45, which became the fifth member of the NBIA Family (Neurodegeneration with Brain Iron Accumulation), a group of rare, genetic neurological disorders characterized by abnormal accumulation of iron in the basal gangli.

 

Today we know WDR45 as the genetic cause for Beta-Propeller Protein-Associated Neurodegeneration - BPAN

Through whole-genome sequencing, the iHOPE NETWORK and their respective clinical partners strive to end years-long diagnostic odysseys.
Through whole-genome sequencing, the iHOPE NETWORK and their respective clinical partners strive to end years-long diagnostic odysseys.