Alport Syndrome
At the end of this session, learners will be able to define and classify Alport syndrome in pediatric patients, interpret genetic test results in Alport…
At the end of this session, learners will be able to define and classify Alport syndrome in pediatric patients, interpret genetic test results in Alport…
Dr. Brown is the St. Jude Chair of Excellence in Genetics, and Professor and Division Chief of Genetics at the University of Tennessee Health Science…
Please Note: This course may contain imagery and/or video of surgical procedures. At the end of this session, learners will be able to understand the role…
Douglas C. Wallace, MD, PhD is the Michael and Charles Barrett Endowed Chair in Pediatric Mitochondrial Medicine and Metabolic Disease and the Director of the…
This lecture will present a stepwise approach to the evaluation and management of the neonate with persistent hyperinsulinism with a focus on precision diagnosis and…
At the end of this session, learners will be able to understand the history of genetic testing, recall commonly used forms of genetic testing for…
Please Note: This course may contain imagery and/or video of surgical procedures. This session will review fetal diagnostic criteria and optimal management to enhance skills…
Dr. Hakon Hakonarson, MD, PhD, is Professor of Pediatrics at the Perelman School of Medicine, University of Pennsylvania, CHOP’s Endowed Chair in Genomics Research and…
The 3rd annual Mitochondrial Medicine Virtual Symposium and Education Day will explore recent advances in mitochondrial DNA disease recurrent prevention, genetic diagnostic testing, acute care…
Primary mitochondrial diseases share in common an impaired ability to generate energy. Highly heterogeneous in etiology and phenotypes, primary mitochondrial diseases are collectively the most…