Posts Tagged ‘genzyme’
It takes “Extraordinary Measures” to promote Pompe Disease awareness
Sometimes, it takes a blockbuster movie like Extraordinary Measures, in theaters now, to increase public awareness of a rare and neglected genetic disease. The movie, which stars Brendan Fraser, Keri Russell and Harrison Ford, is inspired by the story of John and Aileen Crowley, who have two children with Pompe disease. In the 1990’s, John Crowley collaborated with a scientist named William Canfield in an ongoing effort to develop treatment for Pompe disease.
Pompe disease (also known as Glycogen Storage Disease Type II) affects an estimated 1 in 40,000 people in the United States and is caused by the buildup of a complex sugar called glycogen in the body’s cells. The accumulation of glycogen in certain tissues, especially muscles, impairs their ability to function normally. Pompe disease is caused by mutations in a gene called GAA and is inherited in an autosomal recessive manner, which means that two mutated gene copies, one from each parent, are necessary to cause the disease.
My experience with genetic testing
As a founder of AccessDNA with no science background, I am often asked why on earth I choose to devote all of my professional efforts to building a company in the emerging consumer genetics space. While genetics is about as “personal” as it gets, for me it is even more so because my first experience with genetic testing related to the birth of my daughter, Everson.
You see, I am privileged for so many reasons, not the least of which is that I live in a city that has some of the best genetics professionals around. Sadly, there are few of these professionals in the U.S. and I am positive many people would benefit from their services if awareness and access were greater. And it is not just about the prenatal testing that I experienced. There are plenty of other testing types out there that have the potential to enormously impact healthcare, including drug response testing and other clinical medical genetic testing.
That is where AccessDNA comes in. I felt there was a need to help others understand more about their genetic risks and access appropriate genetic testing and services. Fortunately for me, and the thousands of others that are already using AccessDNA, my genetic counselor (and one of the best in the biz) shared a similar vision for how the internet could be the perfect medium for delivery of this hard to find information and services. From the moment she left Genzyme to cofound the company and take the lead hand in creating all the content you find on our website, Jordanna has been the perfect partner and we are all lucky to have access to her!!
