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.
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.
