High Throughput Mutation Screening of Ion Channel Genes in Familial Neurological Disorders

Principal Investigator: Guy A. Rouleau
Theme : Health
Competition : Competition II
Status : Completed
Start : Jan. 16, 2003
End: Mar. 31, 2007
Budget : $5,968,156.00

Ions are electrically charged particles within our bodies. Ion channels generate and orchestrate the electrical signals that race through our nervous system, heart and muscles. Many neurological disorders, such as epilepsy, Tourette syndrome, restless legs syndrome and bipolar disease may in part result from dysfunction in these channels, due to mutations in the genes that encode them. While the sequencing of the human genome has allowed us to identify hundreds of ion channel genes, their precise functions remain elusive. Researchers in this project propose to identify the genetic factors responsible for the aforementioned diseases by screening for mutations in ion channel genes. Once researchers have identified mutations, they will establish which diseases are associated with which specific mutations. By understanding the genetic determinants of these disorders, researchers will be much closer to their diagnosis and to developing therapies to treat these neurological disorders. This project is led by researchers from the Montréal General Hospital Research Institute and McGill University in collaboration with Emerillon Therapeutics Inc., Montréal.



Ron Lafreniere Emerillon Therapeutics inc.