Pompe Disease: Newborn Screening Initiative in the US
Stephanie DeArmey presents “Pompe Disease: Newborn Screening Initiative in the US”. Note that due to PHI, portions of the video slides are blacked out. The audio will continue to play.
Lisa Kobrynski, MD, MPH — Newborn Screening Severe Combined Immunodeficiency T Cell Lymphopenia (SERN/SERGG 2011)
Dr. Kobrynski presents at the 2011 SERC-SERGG Annual Conference.
ISCA (International Standards for Cytogenomic Arrays)
Dr. Ledbetter presents at the 2010 SERGG Annual Meeting.
How to Build Useful Ontologies for Clinical and Translational Research
Dr. Barry Smith presents on biomedical ontology. This is the first of a two-part lecture.
Geoffrey Ginsburg, MD, PhD — Genomic and Personalized Medicine: Foundations to Applications (SERN/SERGG 2011)
Dr. Ginsburg presents at the 2011 SERC-SERGG Annual Conference.
Genetic Telemedicine from the Medical College of Georgia / Georgia Health Sciences University: 1995 to the Present
This is the second in a two-part presentation (video also available on SERC).
Cecelia Bellcross, MS, CGC, PhD — Genetic Risk Profiling for Prediction of Common Diseases (SERN/SERGG 2012)
Dr. Bellcross presents on genetic risk profiling.
Genetic Evaluation of Short Stature
Dr. Irons presents at the 2010 SERGG Annual Meeting
Evolution, Individuality, and Disease
Dr. Boerkoel presents on evolution, individuality, and disease.
Issues in Genetic Testing in Navajo Populations
Dr. Brilliant presents at the 2010 SERGG Annual Meeting.
Krabbe Disease: 100 Years from the Bedside to the Bench and Back to the Bedside
Dr. Wenger presents, “Krabbe Disease: 100 Years from the Bedside to the Bench and Back to the Bedside”
MPS I disease: phenotypes and considerations for newborn screening
Stephanie Cagle presents on MPS I disease.
The future of genomic prediction of common diseases: big data, better prediction?
Dr. Cecile Janssens, Professor of Translational Epidemiology within Emory’s Rollins School of Public Health, presented on Wednesday, September 11 during SERC’s Lunch and Learn Series. Her research involves the translation … More →
Newborn Screening for VLCAD and GA1 in South Carolina
Dr. Wood presents on VLCAD and GA1 newborn screening in South Carolina for the Lunch and Learn series.
Amy Yang, MD, FACMG — Newborn Screening for Pompe Disease: Lessons Learned from New York (SERN/SERGG 2017)
Dr. Amy Yang presents “Newborn Screening for Pompe Disease: Lessons Learned from New York”
Loren Pena, MD — New Gene Discovery and Other Insights from Diagnostic Evaluations in the Undiagnosed Diseases Network (SERN/SERGG 2017)
“New Gene Discovery and Other Insights from Diagnostic Evaluations in the Undiagnosed Diseases Network” by Loren Pena, MD, Undiagnosed Disease Network, Duke University.
New developments with fatty acid oxidation defects
On March 1, 2010, Dr. Michael J. Bennett of The Children’s Hospital of Philadelphia presented “New developments with fatty acid oxidation defects” at Emory University’s Grand Rounds in Atlanta, GA.
Dwight Koeberi, MD, PhD — New developments in therapy for glycogen storage disease (SERN/SERGG 2013)
Dr. Koeberl presents on glycogen storage disease.
Hutton Kearney, PhD, FACMG — Navigating uncertainty and unexpected findings in whole genome array testing: A discussion of interpretation and reporting strategies (SERN/SERGG 2013)
Dr. Kearney presents on genome array testing.