Beyond Seizures: Genetic Journeys from Infancy Onward with Beth Sheidley, Sonal Mahida, and Rozalia Valentine

• In this session we will review the classification system for seizures and epilepsy, with emphasis on epilepsy syndromes. We will discuss the current landscape of genetic discovery for epilepsies and review guidelines for clinical testing. We will present a series of cases to illustrate strategies for diagnostic assessment as well as clinical and personal utility of establishing a molecular diagnosis for individuals with epilepsy.

  Level of Instruction: Intermediate

  

  Only the live session qualifies for CEUs but when possible, we host the recordings on our website and NSGC recommends participants to use their personal email instead of work email addresses to ensure they receive their CEU certificates.

  

  Ambry Genetics is approved as a provider for continuing education program by NSGC and ASCLS P.A.C.E ® Program.

Beth Sheidley, MS, CGC | Presenter

Director of Genetic Counseling for the Department of Neurology at Boston Children’s Hospital

Beth (she/her) is a licensed genetic counselor with over 30 years of experience in clinical genetic counseling, research and teaching. Her areas of expertise include epilepsy, autism, psychiatric illness and both prenatal and pediatric genetic counseling. Beth is the Director of Genetic Counseling for the Department of Neurology at Boston Children’s Hospital. She is a founding member and Co-Chair of EpiGC, an international network of genetic counselors who specialize in epilepsy genetics and who are dedicated to the education of both providers and families. Beth also serves on the Epilepsy Foundation’s Professional Advisory Board and is the Co-Editor of genetics content for the Epilepsy Foundation’s website.

Sonal Mahida | Presenter

Senior Genetic Counseling Program Manager for the Department of Neurology at Boston Children’s Hospital

Sonal (she/her) is a licensed genetic counselor with over a decade of experience in neurogenetics. She is a Senior Genetic Counseling Program Manager for the Department of Neurology at Boston Children’s Hospital. She provides genetic counseling to families in pediatric neurogenetics clinics and manages a team of genetic counselors and genetic counseling assistants. Sonal is also a genomic medicine lead for the Intellectual and Developmental Disabilities Research Consortium’s National Brain Gene Registry. In this role, she participates in gene curation and oversees and manages enrollment inquiries, data access requests, and adherence to authorship guidelines.

Rozalia Valentine | Presenter

Lead Genetic Counselor at the Boston Children’s GeneSTEPS

Rozalia (she/her) is a licensed genetic counselor with experience in clinical neurogenetics and research. In addition to her genetic counseling graduate degree, Rozalia completed formal LEND training and has extensive experience working directly with both children and adults with complex medical and/or developmental needs. Rozalia primarily specializes in neonatal epilepsy, brain malformations, and chromatinopathies. She is the lead genetic counselor at the Boston Children’s GeneSTEPS study site, which enrolls infants with new onset epilepsy for rapid whole genome sequencing.

Victoria Suslovitch, MS, CGC | Moderator

Genomic Science Liaison - Rare Disease at Ambry Genetics

Victoria joined Ambry Genetics in 2023 as a Genomic Science Liaison for the Rare Disease team. In her role, she educates healthcare providers about genetic testing and genomic medicine, and aims to advance access, equity, and quality of genetics services. Prior to joining Ambry, Victoria was a research genetic counselor at Boston Children's Hospital, for a study that develops genomically targeted therapies for children with rare neurological diseases. She received her Master of Science in Genetic Counseling degree from Boston University, and is certified by the American Board of Genetic Counseling