The role of newborn screening in the era of gene therapy for neuromuscular disorders

Title : The role of newborn screening in the era of gene therapy for neuromuscular disorders

Abstract:

Neuromuscular disorders (NMD) are debilitating conditions that often lead to early morbidity and mortality due to progressive weakness. In the last decade, the treatment of NMD has undergone a remarkable advancement and we now we have several therapeutic options for these patients which can be life-saving options.

This has made newborn screening more imperative then ever given that early treatment leads to best neurological outcomes, while delays can lead to irreversible loss of function. The key to early initiation of treatment is accurate early diagnosis. Newborn screening (NBS) provides an opportunity to identify children at higher risk for these debilitating diseases, so that diagnosis can be confirmed followed by prompt initiation of therapies. Herein, is a review of the common NMD and the role of NBS in changing their landscape.

Audience Take Away

• Audience will be able to get an update on Newborn screening and early diagnosis of neuromuscular disorders
• Audience will learn about new therapies including gene and enzyme modulation therapies for these disorders
• Audience will get to review evidence of how the newborn screening in conjunction with advanced therapies can improve outcomes in these potentially life threatening disorders
• If not available in their region, this may provide them with information and an incentive to advocate for early diagnosis and treatment of NMD in newborns

Biography:

Dr. Geetanjali Rathore is an Associate Professor of Neurosciences and Pediatrics at UNMC, Omaha, Nebraska, USA. Dr. Rathore is the Medical Director of the Pediatric Neuromuscular Clinic at Children’s Hospital, Omaha and also a board member of the Newborns Screening Advisory Committee for the Nebraska Department of Health. Dr. Rathore has published many papers, book chapters and podcasts. She has also been invited to many international talks and scientific meeting panels. Dr. Rathore is currently the Associate Editor for the Journal of Child Neurology and on the editorial board of several International Journals.Dr. Geetanjali Rathore is an Associate Professor of Neurosciences and Pediatrics at UNMC, Omaha, Nebraska, USA. Dr. Rathore is the Medical Director of the Pediatric Neuromuscular Clinic at Children’s Hospital, Omaha and also a board member of the Newborns Screening Advisory Committee for the Nebraska Department of Health. Dr. Rathore has published many papers, book chapters and podcasts. She has also been invited to many international talks and scientific meeting panels. Dr. Rathore is currently the Associate Editor for the Journal of Child Neurology and on the editorial board of several International Journals.