William Wilcox, MD, PhD — Pompe Roundtable Discussion (SERN/SERGG 2015)
Dr. Wilcox moderates a panel discussion comprised of Dr. Deeksha Bali, Ms. Andrea Atherton, and Ms. Emily Lisi.
Alex Kemper, MD, MS, MPH — Newborn Screening for MPS I: Evidence and Rationale (SERN/SERGG 2015)
Dr. Kemper presents Newborn Screening for MPS I: Evidence and Rationale.
Marzia Pasquali, PhD, FACMG — Newborn Screening for GAMT Deficiency: The Utah Experience (SERN/SERGG 2016)
Dr. Pasquali presents, “Newborn Screening for GAMT Deficiency: The Utah Experience”
Sarah Elsea, PhD, FACMG — Metabolomics for the Screening and Diagnosis of Rare Disease (SERN/SERGG 2016)
Dr. Elsea presents, “Metabolomics for the Screening and Diagnosis of Rare Disease”
Michael Watson, PhD, MS, FACMG — LTDs and the FDA (SERN/SERGG 2016)
Dr. Watson presents, “LTDs and the FDA”
Victor DeJesus, PhD — Succinylacetone as Primary Marker to Detect Tyrosinemia Type I in Newborns and Its Measurement by Newborn Screening Programs (SERN/SERGG 2016)
Dr. De Jesus presents “Succinylacetone as Primary Marker to Detect Tyrosinemia Type I in Newborns and Its Measurement by Newborn Screening Programs”
COVID-19 Vaccine Considerations for Adult Genetic Patients
Emory University COVID-19 ECHO Program and the Southeast Regional Genetics Network (SERN) will be offering a session to address providers’ concerns about recommending the COVID-19 vaccine to adult patients
The Telemedicine Experience – Companion Demonstration
This video accompanies Dr. David Flannery’s January 28th presentation: The Telemedicine Experience. The demonstration video was produced by Georgia Partnership for Telehealth.
The Telemedicine Experience
Dr. Flannery presents on the current state of telemedicine.
The NIH Undiagnosed Diseases Program
On February 1, 2010, Dr. William Gahl of the National Institutes of Health presented “The NIH Undiagnosed Diseases Program” at Emory University’s Grand Rounds in Atlanta, GA.
The Longitudinal Pediatric Data Resource: Accelerating New Knowledge Discovery and Public Health Surveillance in Genetic Disorders Identified Through Newborn Screening.
Dr. Brower presents, “The Longitudinal Pediatric Data Resource: Accelerating New Knowledge Discovery and Public Health Surveillance in Genetic Disorders Identified Through Newborn Screening.”
The Interactive Autism Network (IAN)
On August 8, 2009, Dr. Paul Law of the Kennedy Krieger Institute at Johns Hopkins University presented “The Interactive Autism Network (IAN)” at the Southeastern Regional Genetics Group, Inc. (SERGG) … More →
The Challenges and Approaches to the Treatment of Peroxisome Assembly Diseases
On January 26, 2009, Dr. Nancy Braverman of the Montreal Children’s Hospital Research Institute presented “The challenges and approaches to the treatment of peroxisome assembly diseases” at Emory University’s Department … More →
Implementation of Newborn Screening for SCID
Dr. Carla Cuthbert gives a brief overview of Severe Combined Immunodeficiency (SCID), its addition to the Recommended Uniform Newborn Screening Panel, and the CDC’s role in the implementation of SCID … More →
Cynthia Powell, MD, MS — Genomics and Newborn Screening (SERN/SERGG 2015)
Dr. Powell presents Genomics and Newborn Screening.
Andrea Atherton, CGC, MS — Newborn Screening For Lysosomal Storage Disorders: The Missouri Experience (SERN/SERGG 2015)
Ms. Andrea Atherton presents Newborn Screening For Lysosomal Storage Disorders: The Missouri Experience.
Eva Morava, MD, PhD — ATP6AP1 Deficiency Causes Liver Disease and Immunodeficiency, Neurologic Symptoms and Abnormal Protein Glycosylation (SERN/SERGG 2016)
Dr. Morava presents, “ATP6AP1 Deficiency Causes Liver Disease and Immunodeficiency, Neurologic Symptoms and Abnormal Protein Glycosylation”
Nicola Longo, MD, PhD — Carnitine and Fatty Acid Oxidation (SERN/SERGG 2016)
Dr. Longo presents, “Carnitine and Fatty Acid Oxidation”
Clinical Genetic Assessment of the Etiology of Autism
On August 8, 2009, Dr. G. Bradley Schaefer of the University of Arkansas for Medical Sciences presented “Clinical Genetic Assessment of the Etiology of Autism” at the Southeastern Regional Genetics … More →