5q Spinal Muscular Atrophy (SMA): The Bench to the Bedside with Elicia Estrella, MS, LCGC

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.

Elicia Estrella, MS, LCGC | Presenter

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.

Brissa Martin, MS, CGC | Moderator

Brissa Martin received her B.S. in Microbiology and Molecular Genetics from the University of California, Los Angeles and her M.S. in Genetic Counseling from the University of California, Irvine. She has worked primarily in the field of molecular diagnostics and has experience in a variety of specialties including neurology, mitochondrial and metabolic disorders, cancer, and whole exome sequencing. She has clinical expertise in pediatric genetics and prenatal diagnosis. Additional experience includes laboratory processes, result reporting, variant assessment, test launching, client services, and sales.