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Recent Webinars

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: Invitae Insights
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

Diagnostic and therapeutic approaches to long QT syndrome (LQTS)

Michael J. Ackerman, M.D., Ph.D.
December 14, 2016
Series: Invitae Insights
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 second webinar, Michael J. Ackerman, M.D., Ph.D. presents the latest diagnostic and therapeutic approaches to long QT syndrome. 

Dr. Ackerman 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.

Dr. Ackerman strives to fulfill the two-fold objective of medical education and biomedical research, as stated by Dr. Charles H. Mayo, “to heal the sick and to advance the science.”

 

Topic: Cardiology
Tags: LQTS

Latest Diagnostic and Treatment Strategies for ARVD/ARVC

Hugh Calkins, MD and Brittany Murray, CGC
November 22, 2016
Series: Invitae Insights
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 first webinar, Hugh Calkins, M.D. and Brittney Murray, M.S., CGC, both of The Johns Hopkins Hospital, discuss the latest diagnostic and treatment strategies for arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Dr. Calkins is the Nicholas J. Fortuin M.D. professor of cardiology and director of the electrophysiology laboratory and arrhythmia service at The Johns Hopkins Hospital.

Ms. Murray is the clinical genetic counselor/program coordinator of the Johns Hopkins Hospital ARVD/C program.

Topic: Cardiology
Tags: ARVD, ARVC

KCNQ2-related epilepsy: impact of genetic testing

John J. Millichap, MD FAAP, Ann & Robert H. Lurie Children’s Hospital of Chicago and Northwestern University Feinberg School of Medicine
November 17, 2015
Series: Invitae Insights
View Recording

Several genes have been implicated in causing genetic forms of epilepsy. In this webinar, Dr. John Millichap will describe the molecular impact of KCNQ2, a gene responsible for causing early onset epilepsy. He will also share insight into the advocacy work of two organizations that provide education, resources, and support to affected families.


A clinical genetics exploration of Charcot-Marie-Tooth disease

Carly Siskind, MS, CGCL, Stanford Health Care
July 29, 2015
Series: Invitae Insights
View Recording

Charcot-Marie-Tooth disease (CMT) is a group of hereditary neuropathies that is characterized by weakness of the foot and lower leg muscles. Symptoms are caused by an impairment in the ability of peripheral nerves to conduct signals throughout the body and result in reduced motor control and sensation in the arms and legs. Different subtypes of CMT exist and genetic testing is often needed to identify the specific subtype. In this webinar, licensed genetic counselor Carly Siskind will explore the underlying genetics, diagnostic options, and clinical management strategies for CMT. She will also discuss the CMT Association and its role as a support resource for clinicians and for patients who are managing this progressive condition.


Diagnosis and management of hypertrophic cardiomyopathy

Dr. Christopher Semsarian, Director, Genetic Heart Disease and Hypertrophic Cardiomyopathy Clinic at Royal Prince Alfred Hospital, Sydney; Director, Australian Genetic Heart Disease Registry
May 18, 2015
Series: Invitae Insights
View Recording

Hypertrophic cardiomyopathy (HCM) is one of the most common single-gene inherited cardiovascular conditions and the most common cause of sudden cardiac death in athletes in the United States. It can present anytime from infancy through adulthood.

Defined by unexplained, abnormal thickening of the heart muscle, or myocardium, HCM can impair both how the heart contracts and the heart’s electrical system, leading to palpitations, dizziness, fainting, chest pain, shortness of breath, and, in some cases, sudden cardiac arrest or death.

Individuals with clinical symptoms of HCM may benefit from diagnostic genetic testing to better understand risks, confirm a diagnosis, and inform management. Asymptomatic individuals within a family with a known HCM mutation may also benefit, as testing may clarify their personal risk of developing HCM and allow for the consideration of medical management.

In this webinar, internationally renowned cardiologist and scientist Dr. Christopher Semsarian offers an overview of the diagnosis and management of HCM from a molecular, genetic, and clinical perspective, and discusses published HCM guidelines.

Topic: Cardiology

Next-Generation Sequencing (NGS) Panel Testing for Noonan Spectrum and Related RASopathy Disorders

Britt Johnson, PhD, FACMG, Invitae Medical Team
April 21, 2015
Series: Invitae Insights
View Recording

Noonan syndrome is a genetic condition, often identified at birth, that can be characterized by a wide spectrum of symptoms and physical features. Clinical findings of Noonan syndrome (and related disorders) include congenital heart defects, craniofacial features, cutaneous abnormalities, tumor development, and more. Noonan spectrum disorders are known as RASopathies due to their impact on the RAS-mitogen-activated protein kinase (MAPK) intracellular signaling pathway. Invitae offers panel testing for conditions that fall under this spectrum.

In this webinar, Britt Johnson will describe both the underlying genetics, as well as the laboratory offerings relevant to obtaining a diagnosis for patients presenting with these clinical features.


Hereditary Gynecologic Cancers: An overview and case studies

Tali Ekstein, MS, LCGC, Invitae
April 01, 2015
Series: Invitae Insights
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As many as 5 to 15% of gynecological cancers are inherited. In this webinar, Invitae’s genetic counselor, Tali Ekstein, will review Invitae’s Hereditary Gynecologic Cancers Panel. We will discuss when this panel may be considered, review the key genes, and cover case studies related to ovarian and endometrial cancers. We will also review how the information obtained from genetic testing may benefit your patient and their family members.

 


High-Risk Breast Cancer Genes – Current Approaches in Community Oncology

Raluca Kurz, MS, LCGC, Invitae
January 28, 2015
Series: Invitae Insights
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Hereditary cancer syndrome testing is becoming increasingly prevalent, yet adoption by community oncology practices has been minimal. Raluca Kurz, a genetic counselor at Invitae, will discuss current drawbacks to incorporating genetic testing into a community oncology practice and how Invitae is helping to overcome these barriers.

Examples include report interpretation, turnaround time, and genetic counseling. We’ll discuss BRCA and the high-risk breast cancer genes as well as management guidelines. The webinar will close with a few case studies of reviewing a family history and then choosing the correct test for your patient.