Spinal Muscular Atrophy (SMA) is a rare disease that affects the motor nerve cells in the spinal cord. SMA may affect a person’s ability to eat, walk, or even, breathe. SMA is also the number one cause of death in infants. In this episode, Dr. Susan Begelman discusses what causes SMA, newborn screening and hope on the horizon.

About Dr. Susan Begelman
Dr. Susan Begelman is the Vice President of the Rare Disease and Neuroscience Medical Unit in US Medical Affairs at Genentech. In this role, Susan provides scientific leadership for a department responsible for generating and executing medical strategies across a broad portfolio of therapeutic areas.
Susan is widely regarded as a respected leader with an unwavering commitment to patients and has over a decade of experience in the biopharmaceutical industry. Since joining Genentech in 2008, Susan has overseen product development activities and provided oversight of medical launch strategies and phase 3b/4 trials in multiple therapeutic areas that include cardiovascular disease, neuroscience, rare disease, and stroke. Prior to joining the biopharmaceutical industry, she was an academic vascular medicine physician in the Department of Cardiovascular Medicine and Medical Director of the Noninvasive Vascular Laboratory at the Cleveland Clinic for six years.
Susan received a Bachelor of Arts in Biology from the University of Pennsylvania and her Medical Doctorate from Hahnemann University School of Medicine in Philadelphia. She completed her residency in internal medicine and fellowship in vascular medicine at the Cleveland Clinic. Susan is a fellow of the Society for Vascular Medicine for which she was a Committee Chair and held elected positions as a Board of Trustees Member, Secretary, and Treasurer. Susan is also a fellow of the American College of Cardiology.
Episode Details

* About Dr. Susan Begelman
* What is Spinal Muscular Atrophy and how it is typically diagnosed
* Newborn screenings how early diagnosis impacts overall prognosis
* Parent expectations for having a child with SMA
* Hope on the horizon for those with SMA

Related Links

Cure SMA (http://www.curesma.org/)
SMA Foundation (http://www.smafoundation.org/)
Muscular Dystrophy Association (https://www.mda.org/disease/spinal-muscular-atrophy)
United Spinal Association (https://www.unitedspinal.org/)

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