Sickle Cell Gene Therapy
New research has led to the approval of sickle cell gene therapy and CHOP has played a big role in both the research and implementation…
Course Category: Human Genetics
Fetal Skeletal Dysplasia
In this session, learners will be able to discuss the background of fetal skeletal dysplasia, predicting perinatal outcome, prenatal genetic evaluation, how to approach severe…
Studies on “Final Common Pathways” Associated with Cardiomyopathies and Arrythmias
Dr. Jeffrey A. Towbin is the Executive Co-Director of the Heart Institute and Professor & Chief of Pediatric Cardiology at Le Bonheur Children’s Hospital and…
Mitochondrial Disease – Making the Diagnosis
Join us as Dr. Rebecca Ganetzky, Director of the Mitochondrial Biochemical Diagnostic Test Development, Assistant Director of the Metabolomics and Advanced Diagnostics Laboratory, and attending…
Genetic Aspects of Congenital Heart Disease
At the end of this session, learners will be able to recall congenital heart disease subtypes, review testing options for disease-related genetic alterations, and understand…
Marfan Syndrome
How well do you know the stigmata of Marfan Syndrome, which are an important components of the pre-participation sports physical? Staci M. Kallish, DO, a…
The Exceptional Story of APOL1 Mediated Kidney Disease
Matt Sampson, MD, MSCE, ASCI is the Warren E. Grupe Chair of Pediatric Nephrology at Boston Children’s Hospital, Associate Professor of Pediatrics and Medicine at…
New Frontiers: At the Forefront of Hemophilia Treatment With CHOP
With a stroll down the hallway at Children’s Hospital of Philadelphia, you run into a tremendous knowledge base and expertise to help answer challenging scientific…
Genetic Testing in the NICU: Benefits and Harms
Learning Objectives: Consider the ways that researchers measure or neglect to measure the utility of genomic medicine for critically ill infants Analyze the complexities of…
7th Annual Personalized IBD and VEO-IBD Virtual Symposium
This one-day virtual course, led by faculty from CHOP’s Center for Pediatric Inflammatory Bowel Disease (IBD) and the Very Early Onset Inflammatory Bowel Disease (VEO-IBD)…