I am Dr. Christine Stanley, Laboratory Director and American Board of Medical Genetics board certified clinical molecular geneticist. I would like to take this opportunity to discuss the importance of carrier testing for one of the most under-recognized but most common genetic causes of infant death, Spinal Muscular Atrophy (SMA).
Continue reading »Thank you to everyone who became a Facebook fan or Twitter follower. Because of you, we surpassed our goal of 2010 fans by February 14 and will be donating $5000 to the Claire Altman Heine Foundation to support research on SMA Carrier testing as a population screening, which we know will be helpful to many families.
Continue reading »I hope you had a happy Thanksgiving holiday. By now, you have hopefully had the opportunity to view our website and have found it helpful and informative when learning about SMA carrier screening.
Continue reading »Hi, I'm Libby Couchon, Senior Genetic Counselor at Athena Diagnostics. I want to be the first to welcome you to this website designed to increase awareness of Spinal Muscular Atrophy (SMA), a disorder that affects 1 in 6000 to 10,000 individuals and is the second most common inherited recessive disorder after cystic fibrosis. SMA is a progressive neuromuscular disorder, which ranges in severity and age of onset from before birth to young adulthood. The most common and severe form of SMA is Type I which affects 60% of individuals with SMA.
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