Researchers at Memorial University of Newfoundland’s Faculty of Medicine are major collaborators in the discovery of a novel gene relating to peripheral neuropathy. A study published in the April online edition of the American Journal of Human Genetics reports the discovery of the gene linked to hereditary sensory and autonomic neuropathy type II (HSAN II), a condition which causes loss of nerve sensation in the hands and feet.

Dr. William Pryse-Phillips

“The most important part of work is that we are finally in a position to help families with this disease,” said Dr. Ban Younghusband, chair of the Discipline of Genetics. “HSAN II has an early onset and can lead to severe disability. These findings will lead to our ability to offer DNA-based diagnostic testing and genetic counseling to those family members of who are at risk of developing the disease or of having children with the condition.”

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 drug based on the action of HSN2 could be used to prevent or treat features of peripheral neuropathy, including that resulting from diabetes.

Drs. Banfield Younghusband and Roger Green

Neurologist Dr. William Pryse-Phillips began working with patients with hereditary neuropathy in 1972, when he first came to Newfoundland. Using information gathered by neurologist Dr. Max House, he began to gather further information on families, mainly in the Notre Dame area, with the disease. He has seen patients with the Type 1 hereditary neuropathy, a rare dominant genetic disease, as well as the even rarer Type II, which is recessive. He estimates he has seen between 50 and 100 patients with Type I and less than a dozen with Type II.

Passing information over to colleagues Drs. Younghusband and Green and well as Dr. Sharon Buehler, now honorary research professor, Dr. Pryse-Phillips role was to make a final diagnosis of the type of hereditary neuropathy the patient had, as well as to treat the patient. Treatment involves counseling on the need to constantly inspect and protect feet, treating pain, and promptly treating complications such as cuts.

Dr. Pryse-Phillips, recently retired, said he was delighted with the identification of the HSAN II gene and credited the work of all those involved for its “obsessive precision.” He said his ability to be clinically certain of the type of hereditary neuropathy each patient had was instrumental in Xenon’s skilful detection of the gene.

In November 2000, Xenon and Memorial University signed an agreement to collaborate on three genetic diseases that are prevalent in Newfoundland and Labrador. The agreement with Memorial was negotiated through the university’s commercialization organization, the Genesis Group. “This agreement, which involved Xenon collaborating with university researchers in St. John’s and Montreal, was a blueprint for how things should be done in Canada” said David King, president of the Genesis Group. “This collaboration was possible because Memorial had access to the unique founder population in this province and because the Faculty of Medicine had the foresight in 1999 to set up a dedicated Discipline of Genetics. Great things can happen when these kinds of resources are mobilized, as evidenced by this announcement about the discovery of gene HSN2. But this is just the beginning, genetic research carried out in Canada and at Memorial will bring great benefit to society over the next decade.”

Xenon is a privately owned, clinical genetics-based drug discovery and development company engaged in developing small molecule therapies based on the genetic causes of select metabolic, neurological and cardiovascular diseases.