5q Spinal Muscular Atrophy (SMA) | Webinar | Ambry Genetics

For more information about genetic testing, please visit www.ambrygen.com/
This talk will review the molecular genetics and clinical components of diagnosing and caring for children and adults with SMA.We will review the natural history of the disease and how the clear understanding of disease etiology has allowed 2 new FDA therapies to change the landscape of this once deadly disorder.
Presented by:
Elicia Estrella, MS, LCGC
Brissa Martin, MS, CGC
Elicia Estrella, MS, LCGC is a certified and licensed genetic counselor at Children’s Hospital, Boston. She works in the neurology department as the genetic counselor/clinic coordinator for the neuromuscular team. She also part Division of Genetic & Genomics in the Kunkel Muscular Dystrophy Research Lab (Louis Kunkel, Ph.D. discovered the DMD gene). Ms. Estrella earned a MS degree in Neuroscience from Boston College and a MS in Genetic Counseling from Brandeis University. She has worked as both a research and clinical genetic counselor at several institutions and on varied research projects. She has published several papers and enjoys mentoring prospective genetic counseling students.

[@ast7173]

Thank you for the comprehensive insight !

[@spandanpate]

Thankyou ma'am very brief insight but I wished you'd also provide more detail on management point of view for physical therapy

[@JUBAsniper100]

Thank you so much

[@prembiswas5581]

Help man sma