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.
David Ledbetter, PhD — Enhancing Knowledge and Improving Patient Care for Rare Genetic Diseases: Engagement of families, clinicians and clinical laboratories (SERN/SERGG 2012)
Dr. Ledbetter presents on patient care for rare genetic diseases.
Newborn Screening Video
Overview of the newborn screening process and what to do next for a positive newborn screening result
National Organization for Rare Disorders (NORD)
NORD is an organization that provides resources for patients and families with rare disorders. Here you can find webinars, educational resources, a list of rare disorders, and other materials to assist with learning more about rare disorders.
Genetic and Rare Diseases (GARD) Information Center
GARD knows that understanding medical terms and technology related to a genetic disorder can be difficult. The Center has developed a glossary of medical terms to help patients and their families understand the language used.
Newborn Screening Disorder Fact Sheets
Provides information on disorders screened via the newborn screening program. These fact sheets were developed for families who want to learn more about a disorder.
Emergency Preparedness Toolkit
Included in this document are disorder-specific lists of supplies needed in case of emergency, as well as a general list of basic emergency preparedness supplies.
Family Perspectives on Telegenetics
Webinar RecordingWebinar Slide Presentation Telegenetics and Telehealth Resources
List of Newborn Screening Conditions Screened in South Carolina
Currently screens for 54 conditions in the following categories: amino acids, endocrine, fatty acid oxidation, hemoglobin, organic acid, and other disorders/conditions
Neurofibromatosis type 2 in Phelan-McDermid syndrome
Catherine Ziats, MDMedical Genetics ResidentGreenwood Genetic Center Greenwood, SC The title of her presentation is: “Neurofibromatosis type 2 in Phelan-McDermid syndrome: institutional experience and review of the literature”
List of Newborn Screening Conditions Screened in Alabama
Currently screens for 46 conditions in the following categories: amino acids, endocrine, fatty acid oxidation, hemoglobin, organic acid, and other disorders/conditions
Alabama’s Listening! Newborn Hearing Screening Program
The Early Hearing Detection and Intervention (EHDI) Program that screens and provides treatment for infants diagnosed with a hearing condition
Utilization of Genetic Services by Primary Care Physicians in the United States
Tina Truong presents on “Utilization of Genetic Services by Primary Care Physicians in the United States”
Georgia Women, Infants, and Children (WIC) Program
A federally funded program to provide low-income women, infants, and children up to the age of 5 with supplemental nutrition
Emergency Preparedness Resources for Patients and Genetic Providers
The National Coordinating Center has consolidated a list of resources developed by the various Regional Genetic Networks, Telehealth Resource Centers, the Centers for Disease Control and Prevention, and Family Voices