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Recent Webinars

Targeted treatments for the genetic epilepsies: Clinical cases

Katie Angione, MD, CGC, Children’s Hospital Colorado and Lacey Smith, MD, CGC, Boston Children’s Hospital
December 13, 2017
Series: Partnership Webinars
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Please join us on December 13th to learn from genetic counselors Katie Angione and Lacey Smith as they discuss clinical cases in the management and targeted treatment of genetic childhood epilepsies.

 

Katie Angione, MS, CGC, is a certified genetic counselor in the Neurology Department at Children’s Hospital Colorado. She provides genetic counseling services to patients and families with neurological disorders, with a primary focus on syndromic and non-syndromic epilepsy disorders. She participates in the Tuberous Sclerosis and Rett Syndrome multidisciplinary clinics, as well as the diagnostic Neurogenetics Clinic at CHCO. In addition to her clinical work, Katie is involved in research studies with the goal of furthering the understanding of epilepsy genetics. This currently includes participation in the Epilepsy Genetics Initiative study based at Columbia University, as well as multiple internal studies investigating the genetic etiology of Doose syndrome. Katie is also a member of EpiGC, a consortium of genetic counselors whose aim is to promote quality services to patients and families affected by epilepsy.

 

Lacey Smith, MS, CGC, is a licensed genetic counselor in the Epilepsy Genetics Program at Boston Children’s Hospital. She provides genetic counseling services to patients and families seen in the clinical consultation program. In addition to her clinical work, she developed and coordinates the PCDH19 patient registry at BCH and is involved in a variety of research projects and collaborations that aim to better understand the genetic contributions to epilepsy. Lacey is a member of EpiGC, a consortium of genetic counselors whose aim is to promote quality services to patients and families affected by epilepsy, and is a co-author of the upcoming NSGC practice guideline for genetic testing in epilepsy.

 

Panels and exomes: Diagnostic yield and detection of childhood epilepsy

Joseph Sullivan, MD, UCSF and Swaroop Aradhya, PhD, Invitae
November 13, 2017
Series: Partnership Webinars
View Recording

Please join us on November 13th to learn from Dr. Joseph Sullivan and Dr. Swaroop Aradhya as they discuss diagnostic yield in the detection of childhood epilepsy.

Dr. Joseph Sullivan, a pediatric neurologist, is the director of the UCSF Pediatric Epilepsy Center, where he specializes in the evaluation and treatment of children with epilepsy, in particular the treatment of refractory epilepsy that does not respond to medications. He also has a specialized Dravet/PCDH19 clinic, where he follows a large cohort of children with these types of genetic epilepsy. Dr. Sullivan is a member of the Pediatric Epilepsy Consortium, which brings together pediatric epilepsy centers across the United States to collaborate on various studies in pediatric epilepsy. Sullivan has been involved in research using functional magnetic resonance imaging (fMRI) to identify areas in the brain that control language in children with epilepsy. Prior to joining UCSF Benioff Children's Hospital in 2007, Dr. Sullivan completed residencies in pediatrics at Children's Memorial Hospital at Northwestern University where he spent an additional year as chief resident. He then completed his child neurology, clinical neurophysiology and epilepsy training at Children's Hospital of Philadelphia.

Dr. Aradhya is a board-certified molecular geneticist and cytogeneticist who has helped shape professional practices and technology applications in clinical genetic testing over the past 15 years. He joined Invitae to help bring genetics into mainstream medicine by innovating laboratory technologies, fostering advances in evidence-based clinical standards, and building mechanisms to empower individuals globally to access their genetic information. Before Invitae, Swaroop was VP and senior laboratory director for Neurogenetics and Clinical Microarrays at GeneDx. He completed medical genetics training in 2007 at Stanford University and received his Ph.D. in molecular and human genetics in 2001 at Baylor College of Medicine. Over the course of his career, he has participated in the international Human Genome Project to sequence the X chromosome and helped characterize several genetic disorders. He is currently a ClinGen investigator, serves on the Board of Directors of the American Board of Medical Genetics and Genomics, and is an adjunct clinical associate professor at Stanford University School of Medicine.


A diagnostic odyssey: Why early and accurate genetic testing in epilepsy is so important

Brenda Porter, MD, PhD (Stanford University) and Kim Nye (TESS Research Foundation)
October 25, 2017
Series: Partnership Webinars
View Recording

Please join our webinar on October 25th to learn from Dr. Brenda Porter and Ms. Kim Nye as they discuss the importance of early and accurate genetic testing in epilepsy.

Dr. Brenda Porter is an Associate Professor of Neurology at Stanford University. She received her MD and PhD from Washington University in St. Louis. Dr. Porter developed an interest in difficult to treat epilepsy, with a special focus on children with neuronal developmental disorders leading to epilepsy such as tuberous sclerosis and focal cortical dysplasia. Her clinical research focuses on improving outcomes in epilepsy surgery, increasing parental understanding of epilepsy and the role epilepsy surgery plays in treatment. Currently she sits on the National Institutes of Health’s (NIH) Neuroscience Training (NST-1) study section and has helped Citizens United for Research in Epilepsy (CURE) and the Tuberous Sclerosis Alliance with their grant reviews.

Kim Nye is the President and Founder of TESS Research Foundation, a nonprofit organization that aims to find better treatment options for SLC13A5 Deficiency. Kim holds a BA from Princeton University. She lives in California with her husband, Zach, and their four children: Tessa, Lily, Maggie, and Colton. Both Tessa and Colton have SLC13A5 Deficiency. Kim was a graduate student at Oxford University when she gave birth to her first daughter, Tessa. When Tessa began having unrelenting seizures shortly after birth, Kim began searching for the underlying cause. This was the start of a 10-year diagnostic odyssey. In addition to her work at TESS Research Foundation, Kim serves as a Lay Reviewer for CURE and is on the Steering Committee for the Rare Epilepsy Network.