MCADD Summit Video – Introduction
This video is a recording of the MCADD Summit that took place on 2.25.2023, which was jointly organized by MNT4P and SERN. This video is part 1 of a 3 … More →
MCADD Summit Video – Medical Commentary
This video is a recording of the MCADD Summit that took place on 2.25.2023, which was jointly organized by MNT4P and SERN. This video is part 2 of a 3 … More →
MCADD Summit Video – Nutritional Management
This video is a recording of the MCADD Summit that took place on 2.25.2023, which was jointly organized by MNT4P and SERN. This video is part 3 of a 3 … More →
Behavioral Health and Development in Individuals with Medical/Neurological Conditions of Known Genetic Origin
As a part of the SERN Lunch and Learn series, John Constantino, MD discussed the development and behavior in individuals with medical and/or neurological conditions of known genetic origin. … More →
Long-term Care Planning for Children with Complex Healthcare Needs
Discusses estate planning for children with complex healthcare needs
Michael Gambello, MD, PhD – An Update on the All of Us Research Program and the SouthEast Enrollment Center (SERN/SERGG 2022)
Provides updates and reviews data from the All of Us Research Program, an effort by the National Institute of Health (NIH), where health data, habits, and the physical environment of … More →
Jaime Vengoechea, MD – Clinical Genomics: Perils, Pitfalls, and Opportunities (SERN/SERGG 2022)
Addresses difficulties that can arise from genomic testing and identifies strategies to mitigate unexpected consequences.
Priya S. Kishnani, MD – New Insights into Hepatic Glycogen Storage Diseases (SERN/SERGG 2022)
Discusses knowledge gaps of Hepatic Glycogen Storage Diseases.
Heidi Wallis – The Role of Families in Advancing Newborn Screening (SERN/SERGG 2022)
Discusses how families advocate for the advancement of newborn screening.
Hans Andersson – What Does the 2022 Medical Genetics Workforce Look Like? (SERN/SERGG 2022)
Provides the historical context of medical genetics and discusses the future of the genetics workforce.
Lori Carter Edwards, PhD, MPH – Addressing Genetic Conditions through a Trustworthy Community Engagement Lens (SERN/SERGG 2022)
Discusses the principles of community engagement, highlighting key strategies to help health professionals build trustworthiness with families, and promote health equity when addressing genetic conditions.
Tara Britt – How Policy Impacts Rare Disease (SERN/SERGG 2022)
Overview of the Rare Disease Advisory Council (RDAC) and how families can get involved in their state’s organization. Find Your State’s RDAC
What is genetic testing? Video in Spanish
Overview of genetic testing. The video is in Spanish with subtitles.
Genetics Visit FAQs
This handout provides answers to frequently asked questions about a genetics visit and what to expect. Genetics Visit FAQ in English Genetics Visit FAQ in Spanish
Telemedicine Tips for Patients and Families/Caregivers
This is a guide to help you prepare for your telemedicine appointment with your provider. Your provider may have additional requirements for you that are not listed in the document. … More →
Healthcare Interpreter Resources
Are you looking for a healthcare interpreter to provide medical interpretation for your patients? Here is a list of professional healthcare interpreter organizations for states in the southeastern region. Alabama … More →
Pathway to Newborn Screening Facilitated by Collaborations with a Parent Organization A Case Scenario: GAMT Deficiency
As a part of the SERN Lunch and Learn series, Heidi Wallis and Marzia Pasquali, PhD, FACMG discussed how they collaborated to have GAMT (guanidinoacetate N-methyltransferase) Deficiency recommended for being … More →
PDF EMBED TEST
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The Early Check Expanded Newborn Screening Study in North Carolina
As a part of the SERN Lunch and Learn series, Holly Peay, Ph.D., MS, and Cynthia Powell, MD, MS discussed their research on expanding newborn screening in North Carolina for … More →
Gene Therapy
Dr. Dwight D. Koeberl, MD, Ph.D. from Duke University was the keynote speaker for the 2021 SERN/SERGG meeting. Dr. Koeberl is a Professor of Pediatrics and a Professor in Molecular … More →