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Gene linked to peripheral nerve degeneration discovered


Vancouver, BC – April 2, 2004 – A study published in the online edition of the American Journal of Human Genetics reports that researchers from Xenon Genetics have discovered a novel gene relating to peripheral neuropathy that results in an absence of sensations. This gene discovery adds further depth to Xenon’s neuroscience portfolio and could lead to novel therapeutic and diagnostic opportunities for patients with peripheral neuropathy.

Xenon Genetics is a clinical genetics-based drug discovery and development company.

Working with a network of collaborators, the Xenon team identified the gene linked to a disease called hereditary sensory and autonomic neuropathy type II, HSAN II. Individuals with this recessive neuropathic disorder suffer from sensory impairment due to loss of nerve fibres in the peripheral nervous system. Drs William Pryse-Phillips, Banfield Younghusband and Roger Green from Memorial University in Newfoundland and Dr Bernard Brais of the Centre de Recherche du Centre Hospitalier de l’Universit de Montral identified regional clusters of families with this disorder in Eastern Canada. Xenon researchers cloned and validated the gene underlying HSAN II in these families.

“This important discovery provides further validation of Xenon’s approach to finding human disease genes for our drug programs,” says Rajender Kamboj, senior vice president, drug discovery at Xenon. “Good drugs are developed from good validated targets and Xenon has already advanced three genetic discoveries into internal drug discovery and development programs”.

Identification of the molecular basis of HSAN II is an important step in the diagnosis and future management of this and other peripheral neuropathies. This gene may play a role in the development or maintenance of peripheral sensory neurons or their supporting cells. It is also possible that a therapeutic derived from this discovery could be used to prevent or treat features of peripheral neuropathy including diabetic neuropathy. Due to the severe disability and early onset of HSAN II, diagnostic testing and genetic counseling is now a viable option for at-risk family members of affected individuals. This will be particularly useful in certain regions of Quebec and Newfoundland where the disease has a very high frequency.