1st Annual Mitochondrial Medicine Education Day
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…
Course Category: Human Genetics
Influence of Genetic Information on Neonatologists’ Decisions
Katharine Press Callahan, MD, is a neonatology fellow at Children’s Hospital of Philadelphia. Her research focuses on how neonatologists use genetic information to make medical…
Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care
Katherine Szigety, MD, PhD completed her MD-PhD training at the Perelman School of Medicine at the University of Pennsylvania. Her thesis work in Biochemistry and…
Metabolic Outliers in Human Disease
Dr. Ralph DeBerardinis, MD, PhD joined the faculty of UT Southwestern Medical Center in 2008 and joined the Children’s Medical Center Research Institute at UTSW…
The Genetics of the Epilepsies
At the end of this session, learners will be able to understand the genetic basis of childhood epilepsies, to learn about the potential for precision…
Gene-Targeted Therapies of Neuromuscular Disorders: An Update on SMA and DMD
At the end of this session, learners will be able to gain an overview of genetic diagnostic advances and its therapeutic implications in neuromuscular diseases,…
Turner Syndrome: The (Missing) X Files
Turner syndrome is a genetic disorder that affects girls and results in a variety of health problems ranging from short stature and lack of pubertal…
“I’ve Always Loved to Ask Why”: The Power of Mitochondrial Medicine
Our mitochondria make the energy that keeps us alive. Geneticist Marni Falk, MD, joins Madeline to discuss what happens when our mitochondria don’t work properly,…
Realized: Delivering on the Promise of Gene Therapy
World-renowned hematologist and scientist Dr. Katherine High has spent much of her career focused on achieving a goal few believed was possible: developing gene therapies…
Sequenced: Using Genetics to Solve Medical Mysteries
Strange symptoms with no clear cause. Medical histories that mystify even the most experienced doctors. Dr. Ian Krantz, Co-Director of CHOP’s Roberts Individualized Medical Genetics…