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…

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…