View Only- Spinal Muscular Atrophy: A Timely Update-Spinal Muscular Atrophy: A Timely Update

Video Transcription

Video Summary

The video is a webinar presented by Tom Pryor on spinal muscular atrophy (SMA). He begins by discussing upcoming events and then introduces the topic of the webinar as a timely update on SMA. He highlights recent breakthroughs, such as ACOG endorsing carrier screening for SMA and the approval of Spinraza, an FDA-approved antisense drug for the treatment of SMA.<br /><br />Pryor emphasizes the importance of the Clara Altman Hein Foundation in supporting carrier testing and provides a disclaimer about the educational purpose of the webinar. He then outlines the learning objectives, which include recognizing the different types of SMA, discussing genotype-phenotype associations, exploring carrier and newborn screening for SMA, and providing insights into new therapies for SMA.<br /><br />Pryor invites participants to ask questions at the end of the presentation and provides a preview of the topics he will cover, including the clinical disorder, molecular genetics, diagnostic testing, carrier testing, pathogenesis, and new treatments for SMA. He also discusses the significance of the SMN2 gene in modifying the SMA phenotype and the therapeutic potential of Spinraza in increasing the inclusion of a specific exon of the SMN2 gene.<br /><br />In conclusion, Pryor advocates for newborn screening for SMA to facilitate early diagnosis and treatment. He recommends starting Spinraza therapy early and emphasizes the importance of genetic counseling and education in SMA management. The webinar was made possible with support from the Clare Hein Foundation and is accredited by ACCME for one continuing medical educational credit. Participants are encouraged to complete an evaluation at the end of the webinar.

Asset Subtitle

Hosted by The Ohio State University

Keywords

webinar

spinal muscular atrophy

Spinraza

learning objectives

genotype-phenotype associations

carrier testing

newborn screening

new therapies

genetic counseling