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Past 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
View Recording

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.

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria

Keith Nykamp, PhD, Invitae
November 08, 2017
Series: Leading with Science
View Recording

Join us for a live webinar on Invitae’s innovative approach to genetic variant classification, recently published in the October issue of Genetics in Medicine.

The program, intended for genetic counselors, geneticists, and other healthcare providers interested in variant classification, will help you:

  • Understand how Invitae applies the ACMG–AMP variant classification framework and further refines its application for consistency
  • Categorize and prioritize evidence for comprehensive interpretation of sequence variants
  • Identify useful data sources for confident variant classification
  • Systematically and rigorously apply semi-quantitative evidence criteria when classifying variants from benign to pathogenic

Dr. Keith Nykamp has been studying the influence of genetic variation on phenotype in academic and diagnostic settings for more than 15 years. He’s been with Invitae since 2013 and leads the effort to establish and maintain a reliable evidence-based system for variant classification. Before joining Invitae, Dr. Nykamp worked as a molecular geneticist and director of next-generation sequencing at Prevention Genetics.

The future of genetic testing: Making genetic information affordable and accessible to all

Randy Scott, PhD, Chairman of the Board, Invitae and Genome Medical
October 30, 2017
Series: Partnership Webinars
View Recording

Please join us on October 30th as Dr. Randy Scott discusses the future of genetic testing and how we can make genetic information affordable and accessible to all.

Randy Scott is executive chairman of Invitae and Genome Medical. Prior to this position, Randy served as chief executive officer at Invitae. Prior to co-founding Invitae, Randy served as Genomic Health's Chief Executive Officer from 2000 until 2009 and Executive Chairman until 2012. Under Randy's leadership, Genomic Health developed and launched two revolutionary cancer diagnostics tests. At Incyte, Randy served in various roles from 1991 through 2000, including Chairman of the Board, President and Chief Scientific Officer. Randy holds a B.S. in Chemistry from Emporia State University and a Ph.D. in Biochemistry from the University of Kansas. Randy is a prominent thought leader in the genomics and sequencing space and is the author of more than 40 publications, 20 patents, and is the recipient of numerous awards, which highlight his leadership in the personalized medicine space.

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.

Next-generation sequencing (NGS)-based detection of deletions and duplications in heritable cardiovascular conditions

Matteo Vatta Ph.D., FACMG
May 24, 2017
Series: Leading with Science
View Recording

Next-generation sequencing (NGS) effectively detects both del/dup events and sequence alterations, and has a number of advantages over traditional techniques. Intended for genetic counselors, physicians, and other healthcare providers, this presentation will help you to:

  • Understand how next-generation sequencing (NGS) can detect both del/dup events and sequence alterations
  • Assess the advantages of NGS-based del/dup detection, including improved coverage compared to traditional techniques
  • Describe the frequency of del/dup events in heritable cardiovascular conditions

Dr. Vatta is a clinical molecular geneticist with more than 20 years of experience in cardiovascular genetic research and 10 years in cardiovascular genetic diagnostics. Before joining Invitae, Dr. Vatta was the Director of the Cardiovascular Genetics Section at the Indiana University Molecular Genetics Diagnostic Laboratory in the Division of Diagnostic Genomics and Associate Professor of Clinical Medical and Molecular Genetics at Indiana University. There, he led the development and launch of next-generation sequencing analysis for clinical testing. Dr. Vatta received his Ph.D. in molecular genetics from the Scuola Internazionale Superiore di Studi Avanzati/International School of Advanced Studies (SISSA/ISAS) in Trieste, Italy, with a thesis on the “Molecular Genetic Approach to the Study of Dilated Cardiomyopathy." 

What is the role of DNA diagnostics in cardiovascular medicine?

Robert Nussbaum, MD
March 28, 2017
Series: Invitae Insights
View Recording

Looking for insights into the care of families with inherited cardiovascular diseases and the implications for genetic testing? This webinar describes the role of DNA diagnostics in cardiovascular medicine. Intended for genetic counselors, physicians, and other healthcare providers, the presentation will help you better:

  • Understand the role of genetic testing in the diagnosis and management of cardiovascular disease
  • Identify patients who are most likely to benefit from genetic testing
  • Interpret genetic test results confidently

Dr. Nussbaum has served as Invitae’s Chief Medical Officer since August 2015. Prior to joining Invitae, he was chief of the Division of Genomic Medicine at UCSF Health, where he also held leadership roles in the Cancer Genetics and Prevention Program beginning in January 2009 and the Program in Cardiovascular Genetics beginning in July 2007. From April 2006 to August 2015, he served as a member of the UCSF Institute for Human Genetics. Prior to joining UCSF Health, Dr. Nussbaum was chief of the Genetic Disease Research Branch of the National Human Genome Research Institute, one of the National Institutes of Health, from 1994 to 2006.

He is a member of the Institute of Medicine and a fellow at the American Academy of Arts and Sciences. Dr. Nussbaum is a board-certified internist and medical geneticist who holds a B.S. in Applied Mathematics from Harvard College and an M.D. from Harvard Medical School in the Harvard-MIT joint program in Health Sciences and Technology. He completed his residency in internal medicine at Barnes-Jewish Hospital and a fellowship in medical genetics at the Baylor College of Medicine.

Topic: Cardiology

Diagnostic and therapeutic approaches to catecholaminergic polymorphic ventricular tachycardia (CPVT)

Silvia Priori, M.D., Ph.D.
February 02, 2017
Series: Partnership Webinars
View Recording

We are pleased to jointly present a three part medical education webinar series with the Sudden Arrhythmia Death Syndromes (SADS) Foundation. The series is designed to educate genetic counselors, physicians, and other healthcare providers about the care of families with inherited arrhythmias and implications for genetic testing.

In this third webinar, Silvia Priori, M.D., Ph.D. presents the latest diagnostic and therapeutic approaches to catecholaminergic polymorphic ventricular tachycardia (CPVT). 

Professor Priori is full professor of cardiology at the University of Pavia (Italy), general scientific director of the IRCCS Fondazione Salvatore Maugeri, director of cardiac rehabilitation, and head of the molecular cardiology laboratories at the IRCCS Fondazione Salvatore Maugeri. Professor Priori is also director of the cardiovascular genetics program at the Centro Nacional de Investigaciones Cardiovasculares Carlos III (CNIC) in Madrid, Spain.

Professor Priori's research laboratories have helped to define the fundamental mechanisms of arrhythmogenesis and abnormalities of intracellular calcium that cause sudden cardiac death in patients with inherited arrhythmias. More recently, Professor Priori’s research has focused on the development of molecular therapies for inherited arrhythmias.

Topic: Cardiology
Tags: CPVT