Please join us on August 7 to learn from Drs. Nykamp and Araya, as they discuss the role of a functional modeling platform that utilizes computational and experimental approaches — including cellular and mRNA analyses — to inform the clinical significance of variants affecting both RNAs and proteins.
Keith Nykamp, PhD, currently leads the Clinical Sciences and Interpretation team at Invitae. As part of this team, he is working to improve the accuracy of variant classification with a robust, evidence-based system that can be applied consistently across all genes and diseases. Before joining Invitae, Keith worked as a Molecular Geneticist and Director of Next-Generation Sequencing (NGS) at PreventionGenetics. He holds a doctorate in Molecular Genetics from the University of Florida and was a postdoctoral fellow with the Howard Hughes Medical Institute at the University of Wisconsin-Madison.
Prior to joining Invitae, Carlos L. Araya, PhD, was the co-founder and CEO of Jungla Inc., an AI-driven biotechnology company focused on enabling robust, scalable and transparent clinical genomics for the precision medicine industry. Carlos completed postdoctoral work at Stanford University and holds a doctorate in Genome Sciences from the University of Washington. His work has been published in Nature, Nature Methods, Nature Biotechnology, and Nature Genetics, and featured in the New York Times.
Please join us on July 24th to learn from Dr. Aradhya as he shares insights from Invitae’s recent study published in Epilepsia Open involving nearly 10,000 patients that supports the routine and early use of genetic testing in childhood epilepsy.
Swaroop Aradhya, PhD, FACMG, is the head of Global Medical Affairs at Invitae. Dr. Aradhya is a board-certified molecular geneticist and cytogeneticist. 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.
Please join us on June 11th to learn from Dr. Andrea Mazzanti as he discusses estimating and managing risk in patients with LQTS and CPVT.
Andrea Mazzanti, MD, is a cardiologist and researcher at the Molecular Cardiology Division of the IRCCS ICS Maugeri in Pavia, Italy. Since 2012, Dr. Mazzanti has worked with Professor Silvia G. Priori on clinical research in the field of genetic diseases of the heart.
Join Invitae and partners for a webinar presenting Invitae’s new patient-driven, telemedicine-guided genetic testing service . Topics include: Invitae’s intent and goals; a detailed demonstration of the patient experience; how we work with our partners, Genome Medical and PWN Health, to provide patients with expert clinical support; outcomes from our pilot program; and how this new process can help genetic counselors in the clinic. At the end of the webinar, we have ample time to answer questions from the audience. We encourage you to participate by submitting your questions in real-time during the webinar or beforehand at this link: https://forms.gle/gmwcz5TUFWLGPPmF7.
Please join us on June 5th to learn from Dr. Etheridge as she discusses risks and benefits of exercise in the management of patients with genetic heart rhythm disorders.
Susan Etheridge, MD, is Director of the Pediatric Cardiology Fellowship and Residency Program at the University of Utah School of Medicine and Primary Children’s Medical Center. Dr. Etheridge is a pediatric electrophysiologist who sees children and some adults with all forms of arrhythmic disorders, having a special interest in long QT syndrome.
Please join us on June 5th to learn from Dr. Ackerman as he discusses postmortem genetic testing for sudden cardiac death in the young.
Michael J. Ackerman, MD, PhD, is the Windland Smith Rice Cardiovascular Genomics Research Professor and Professor of Medicine, Pediatrics, and Pharmacology at the Mayo Clinic in Rochester, Minnesota. He is a consultant in cardiovascular diseases and pediatric cardiology and serves as Director of Mayo Clinic’s Long QT Syndrome/Genetic Heart Rhythm Clinic and the Windland Smith Rice Sudden Death Genomics Laboratory.
Please join us on November 13th to learn from Dr. Nussbaum as he discusses the clinical utility of genetic testing for heritable cardiovascular conditions, including arrhythmias, cardiomyopathies, familial hypercholesterolemia, and aortic aneurysms.
Prior to joining Invitae, Dr. Nussbaum was chief of the Division of Genomic Medicine at UCSF Health, where he also held leadership roles in the Cancer Genetics and Prevention Program and the Program in Cardiovascular Genetics. 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.
Please join us on July 24th to learn from Dr. Aradhya as he discusses a study recently published by Invitae in Genetics in Medicine, showing that intragenic copy number variants (CNVs; deletions/duplications) are a substantial proportion of clinically important variants reported in genetic testing across diverse clinical specialties.
Dr. Aradhya is a board-certified molecular geneticist and cytogeneticist, who has helped to shape professional practices and technological 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.
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.
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.