Inborn errors of immunity can affect individuals of any age and any background. The symptoms can range from mild to severe and the treatment and screening for these symptoms can be invasive. It is well established in the literature that a genetic diagnosis can help guide medical management, but how good are genetic tests at finding diagnoses? Does the genetic test you’re ordering include copy number variant analysis, deep intronic variants, and coverage of difficult-to-sequence regions?
In this educational webinar, North American Marketing Manager Joe Jacher, MS, CGC and Executive Medical Director Dr Tero-Pekka Alastalo, MD, PhD will provide an introduction to genetic testing for inborn errors of immunity and examine Blueprint Genetics’ experience sequencing thousands of individuals suspected of having an inborn error of immunity. We will also review the Comprehensive Immune and Cytopenia panel and when it might be useful for your patients.
Tero-Pekka is the Executive Director of Medical, and also a co-founder at Blueprint Genetics. He is based in San Francisco and holds various responsibilities in the North American operations of the company. Tero-Pekka has an MD-PhD degree and is specialized in pediatrics and pediatric cardiology. He has a PhD in molecular and cellular biology as well. During his 3-year postdoctoral training at Stanford University School of Medicine, he focused on the molecular genetic mechanisms of cardiovascular disease.
Joe Jacher, MS, CGC received a Bachelor of Arts degree in Biochemistry, Cell and Molecular Biology from Drake University and a Master of Science degree in Genetic Counseling from the University of Cincinnati. He worked as a clinical genetic counselor at both Michigan State University and the University of Michigan and specialized in Pediatrics, Immunology, and Hematology. Currently, he is the North American Marketing Manager for Blueprint Genetics based out of Minneapolis, Minnesota.
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