Family

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 →

Genomics and Newborn Screening

Dr. Powell presents Genomics and Newborn Screening.

Newborn Screening For Lysosomal Storage Disorders: The Missouri Experience

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 →

Considering Newborn Screening for X-linked Adrenoleukodystrophy

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”

Cystic fibrosis NBS Intended and Unintended Consequences

Dr. Schechter presents on Cystic fibrosis newborn screening.