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(November 2, 2000, Gazette)

Genetics at the breakfast table

Dr. Bridget Fernandez and Dr. Ban YounghusbandPhoto by HSIMS
Dr. Bridget Fernandez and Dr. Ban Younghusband

By Sharon Gray

Guests from government, health care organizations, community groups and the university gathered for breakfast at the Fluvarium Oct. 17 to find out more about genetic research at Memorial.

The speakers were Dr. Ban Younghusband, interim chair of the Discipline of Genetics, and Dr. Bridget Fernandez, acting clinical chief of the Newfoundland Genetics Program.

Dr. Younghusband explained that the Discipline of Genetics is new and still small, with just five full-time faculty members and another five faculty involved in collaborative research. Areas of research include population genetics, genetic epidemiology, molecular genetics and clinical genetics.

Newfoundland has often been described as a geneticist’s paradise because its population descends from a small homogenous group with large families and a stable population. In addition, excellent family records are available and people are willing to participate in studies.

There have been many successful results from genetic research done in Newfoundland, with identification of specific genes for diseases such as myotonic dystrophy, polycystic kidney disease, Bardet-Biedl Syndrome, and hereditary colon cancers. Dr. Younghusband said new areas of research involve complex diseases such as obesity and diabetes.

The benefits of genetic research are better health care and improved quality of life for those affected by genetic diseases, as well as clues to understanding common disorders. Genetic research also offers the opportunity for economic benefit to the province, since all this research is funded by outside money.

Dr. Fernandez talked about the clinical aspects of the Newfoundland and Labrador Medical Genetics Program (NLMGP). Staff include herself, one half-time clinical geneticist (Dr. Ted Rosales), medical geneticist Dr. Jane Green, three genetic counsellors in St. John’s (two at the Janeway and one at the Hereditary Cancer Clinic), two outreach genetic counsellors and one clinical assistant.

The laboratory services offered include molecular and cytogenetic analysis. The molecular lab now offers tests for 10 single-gene disorders including cystic fibrosis, hereditary colon cancer and hereditary hemochromatosis. Dr. Fernandez said that while some genetic diseases are over-represented in Newfoundland, others are almost non-existent. One objective is to establish a registry housed at the NLMPG which would identify the 10 most common genetic disorders in the province in a number of categories including single gene disorders, multifactorial disorders and congenital abnormalities.

“We want to offer better screening to families with hereditary conditions, including where possible the option of a genetic test for family members at 50 per cent risk of being affected.”

The breakfast talk by Drs. Younghusband and Fernandez was part of Health Research Awareness Month activities organized by a new biomedical research marketing group in the Faculty of Medicine. The breakfast was sponsored by Glaxo Wellcome Inc.

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