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(January 24, 2002, Gazette)

Genetic disease attracts attention of German TV
Research heading to small screen


A German television crew was in the province last week to film material that will be included in a three-part documentary on genetics and its impact on clinical practice in medicine. The three-man crew from ZDS TV spent part of their time in Gander, where they interviewed Corey Winter, a young man whose life was saved two years ago by an internal cardiac defibrillator. (See Gazette, Oct. 4, 2001).

The story of Corey Winter’s genetic illness and how he came to have the defibrillator installed is also the story of the search for the gene that causes a rare genetic condition known as arrythmogenic right ventricular cardiomyopathy (ARVC). Medical geneticists at Memorial have been researching this condition and mapping the families in which it occurs for over a decade. In 1995 Dr. Ludwig Thierfelder, a German cardiologist and cardiovascular geneticist, became interested in the condition and teamed up with the Memorial group to do genetic testing.

Dr. Thierfelder was also in Newfoundland last week, and the TV crew followed him as he met with patients. While he can’t predict when the specific gene that causes ARVC will be identified, he said the search has been narrowed down to the short arm of chromosome 3 and genes in that area are being screened for mutations.

“We can tell individual patients quite a lot,” he said. “We can almost precisely identify risk because there are several landmark DNA polymorphisms that distinguish one individual from another and all those affected in the pedigree have a specific pattern of polymorphisms in that region.”

Even for those who know they are at high risk of sudden cardiac death, the good news is that an internal cardiac defibrillator can recognize fatal arrythmias and, if necessary, provide a shock that reinstates normal heart rhythm.

The ZDS TV documentaries will look at 12 different diseases and what genetic therapy can offer in terms of treatment. “In Germany there’s a very heated debate about genetics and genetic engineering,” said Michael Garrett, an American who has lived in Germany for 11 years. “We want to show some of the positive benefits coming from genetic research and treatments.”

Jens Monath is a writer and reporter who came up with the idea for the documentary series. “Two years ago we started reading about biotechnology and stem cell research. We wanted to do something that would focus on people’s destinies, telling people’s stories.”

Mr. Monath said the documentaries will not tell retrospective stories, but ones that are unfolding right now. “Like the family today who heard the news about their son’s risk for sudden cardiac death, we want to be there when that’s happening.”

Although some of the stories are being filmed in Germany, others are coming from outside the country. Mr. Monath said the two camera crews involved in shooting the documentaries are doing a lot of travel, and he thought it was well worthwhile to travel for five-and-a-half hours to Newfoundland to interview some of the people affected by one rare genetic disease.