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Ann Martin
- Female
- Asheville, NC
- United States
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Join DuchenneConnect's Clinic Services Resource Today!
Started Aug 10, 2011 0 Replies 1 Favorite
What do you like about the healthcare your child is receiving at clinic? What do you NOT like about the healthcare your child is receiving at clinic? WE WANT TO KNOW! Please join the Clinic…Continue
Ann Martin, MS, CGC, Genetic Counselor & Director of The Duchenne Registry
Profile Information
- About me:
- I work for PPMD as Director of The Duchenne Registry and I am a certified genetic counselor. I have been with PPMD since 2011, and prior to joining PPMD, I worked as a genetic counselor at Carolinas Healthcare System for 15 years.
- About my family:
- I am married with two children.
- City:
- Asheville, NC
Ann Martin's Blog
Understanding Currently Recruiting Gene Therapy Studies
Posted on December 19, 2017 at 4:19pm 1 Comment 0 Favorites
For the last many months, we have all been watching gene therapy make headlines around the world, across various diseases. As you know, earlier this year PPMD launched a Gene Therapy Initiative to help support the exploration of various gene therapy technologies in Duchenne.
Of particular note has been the progress made in…
ContinueYour DuchenneConnect Registry Data is Advancing Research! New Publication
Posted on October 16, 2017 at 10:29am 0 Comments 0 Favorites
Do you ever wonder what happens to all the data we collect in the DuchenneConnect Registry? Ever wonder why we regularly ask you to update your registry account?
How your data is used:
Your data is used in many ways.…
ContinuePPMD's DuchenneConnect Team Presents at Annual Genetic Conference
Posted on October 5, 2016 at 1:00pm 0 Comments 0 Favorites
Last week, Ann Lucas and I had the honor of presenting an Educational Breakout Session focused on Duchenne at the National Society of Genetic Counselors (NSGC) Annual Education Conference in Seattle. Lauren Morgenroth from TRiNDS also presented during the session, as well as Laurie Paschal, a Duchenne mom living in…
DuchenneConnect & UCLA Recruiting Patients for Genetic Modifiers Study
Posted on March 15, 2016 at 10:49am 0 Comments 0 Favorites
We know that changes or mutations in the Dystrophin gene are what cause Duchenne and Becker but we don’t have a good understanding of why people within the same family with the same genetic change (genotype) can be so different in their symptoms (phenotype). The…
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Hi Ann, I had sent a friend request and failed to put a message with it. I was wondering if you are still looking at DNA analysis's and gathering them. My daughters MLPA test shows duplications in exxon 8-17. She is in the United Dystrophinopathy Project thru Nationwide Childrens Hospital. Thanx, Sherri