The Safe and Effective Practice of AAV Gene Therapy
Join the Clinical In Vivo Gene Therapy (CIGT) team at Children’s Hospital of Philadelphia for an exciting educational symposium, as we provide fundamental knowledge on…
Course Category: Human Genetics
Fetal Fireside: Detailed Fetal Imaging and Whole Exome Sequencing/Whole Genome Sequencing Can Reveal the Diagnosis in Complex Cases with Normal Microarray
This session will present an overview of prenatal exome and genome sequencing (ES and GS), review the CHOP/CFDT experience with ES/GS on anomalous fetuses, discuss…
Gene Therapies for Epilepsy
Learning Objectives: Understand the types of gene therapy approaches and their risks Describe current therapies being studied for epilepsy treatment Speaker: Pamela Pojomovsky McDonnell, MD,…
Explore the Cores: Talking Transformational Technology, Throughput Sequencing & Trees with Teodora Orendovici, PhD
Today’s high throughput sequencing techniques empower researchers to sequence a genome, epigenome, and transcriptome faster than ever before. At Children’s Hospital of Philadelphia Research Institute,…
5th Annual Mitochondrial Medicine Education Day
Please join us for our 5th Annual Mitochondrial Medicine Virtual Symposium! The Children’s Hospital of Philadelphia hosted this full-day virtual event for clinicians, researchers and…
Genetic Mechanisms and Disorders
At the end of this session, learners will be able to describe indications for genetic evaluation, recall current methods for genetic testing, and discuss the…
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…
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…