Knowing your exact genetic diagnosis does more than just satisfy your curiosity — it can impact family planning, disease management and participation in clinical trials
Respondents to MDA’s Transitions Survey — in other words, people with a neuromuscular disease who are in their teens through late 30s — made it clear they had questions about the genetics of their disease, as well as questions about family planning and the value of diagnostic testing.
MDA’s Genetic Counseling Webinar, which occurred Feb. 22, 2012, answers many of those questions.
Exon skipping is a strategy currently being developed for Duchenne muscular dystrophy (although it may have application to other genetic diseases down the line) in which sections of genetic code are “skipped,” allowing the creation of partially functional dystrophin, the muscle protein missing in DMD.
Originally titled in print: Peeking at 'the Cards You Were Dealt'
James Lupski’s story has all the elements of a good sci-fi tale: a research scientist determined to uncover the cause of his own genetic disease, a friend and colleague who’s also an intrepid gene hunter, and a futuristic technology that not only pinpoints the molecular cause of the research scientist’s disease, but also opens the door to a new era of personalized medicine.
But in this case, it’s...
Imagine visiting your doctor and being advised to get a particular genetic test. Instead, you open your laptop and pull up a list of all 3 billion chemical “letters” that make up your full genome (the entire set of genes that comprise your DNA).
Or, perhaps you have your genetic blueprint, or “genome sequence,” encoded in a chip on your health insurance card. Swipe it through a reader when you...
Genetic testing in the 21st century
From the Human Genome Project to TV medical and crime shows, to an evergrowing list of genetic tests purported to diagnose diseases, trace your ancestry or predict your future, DNA seems to be the subject of the day.
Even those who choose not to undergo testing find it hard to ignore. Whether or not to get tested is a personal decision. But since the DNA testing genie isn’t going back in the...
MDA begins first U.S. Duchenne gene therapy trial
Family histories help solve medical mysteries
The year was 1992, and neurologist John Day had recently moved from the University of California at San Francisco to the University of Minnesota at Minneapolis, where he was to assume the directorship of the MDA clinic. (Day still holds this position, at what is now the Fairview-University Medical Center. He's also an associate professor of neurology at the university.)
Earlier that year, a...