David Bick, MD — Whole Genome Sequencing – It’s Time Has Arrived (SERN/SERGG 2016)
Dr. Bick presents, “Whole Genome Sequencing – It’s Time Has Arrived”
Celia Kaye, MD, PhD — RSSM Regional Collaborative Models (SERN/SERGG 2016)
Dr. Kaye presents, “RSSM Regional Collaborative Models”
Reliable newborn metabolic screening of NICU infants is difficult!
On December 15, 2008, Judi Tuerck, RN, MSN presented “Reliable newborn metabolic screening of NICU infants is difficult!” at Emory University’s Department of Human Genetics Grand Rounds.
Amy Cunningham, RD, LDN, MS — Recommendations for the Nutrition Management of Phenylalanine Hydroxylase Deficiency (SERN/SERGG 2014)
Amy Cunningham talks about newly released SERC/GMDI PKU Nutrition Management Guidelines.
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”
Michael Watson, PhD, MS, FACMG — LTDs and the FDA (SERN/SERGG 2016)
Dr. Watson presents, “LTDs and the FDA”
Metabolic Camp
Metabolic Camp offers a holistic approach to the nutrition management of PKU and MSUD–empowering females ages 12 and older to make healthy choices and take charge of their futures as they live, learn, and play in a supportive camp environment.
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 →
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.
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 →
Alex Kemper, MD, MS, MPH — Considering Newborn Screening for X-linked Adrenoleukodystrophy (SERN/SERGG 2016)
Dr. Kemper presents “Considering Newborn Screening for X-linked Adrenoleukodystrophy”
Current and Emerging Strategies for the Treatment of Inborn Errors of Metabolism
Dr. Li presents: “Current and Emerging Strategies for the Treatment of Inborn Errors of Metabolism”