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.
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
Family Perspectives on Telegenetics
Webinar RecordingWebinar Slide Presentation Telegenetics and Telehealth Resources
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”
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”
What to Expect From a Telehealth Visit
Provide patients with information on what to expect during your telehealth visit
September 2020 Lunch and Learn
Speakers for this presentation:Catherine Ziats, MD Medical Genetics Resident
David Flannery, MD — Update on Telemedicine in the SERGG States (SERN/SERGG 2013)
Dr. Flannery presents on Telemedicine in the SERGG states.
Kristy Lee, CGC, MS — Challenges in Interpretation & Explanation of Exome Sequencing (SERN/SERGG 2015)
Ms. Kristy Lee presents, Challenges in Interpretation & Explanation of Exome Sequencing.
Nicholas Katsanis, PhD — Modeling Structural Defects in Neonates and Young Children (SERN/SERGG 2015)
Dr. Katsanis presents Modeling Structural Defects in Neonates and Young Children.