Educational Videos

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.

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 →

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 →

What are Chromosomes and Genes? Video in Spanish

Overview of the concepts of genes and chromosomes, the basics of genetics. The video is in Spanish with English subtitles.

Diagnosing the Previously Undiagnosable through Genomic Medicine

Developing a genomic medicine program

Dr. Korf presents on genomic medicine.

CRISPRs & Gene Editing: Laboratory Use & Clinical Future

Invited Speaker: Robert A. Kesterson, PhD – UAB “CRISPRs & Gene Editing: Laboratory Use & Clinical Future”

Collaborative Care among Specialists, Families, and the Primary Care Medical Home for Children with Genetic Conditions

Dr. Carl Cooley presenting on Medical Home.

Clinical Whole Exome Sequencing For the Evaluation of Genetic Disorders

Dr. Eng presents on whole exome sequencing.

Clinical Application of Microarray Technology on Hematological Malignancies and Solid Tumor: The CCMC Experience

Dr. Li presents at the 2010 SERGG Annual Meeting.

Basic Building Blocks for Biomedical Ontologies

Dr. Barry Smith presents on biomedical ontology. This is the second in a two-part series.

A Miraculous New Era for Cystic Fibrosis: Impact of Molecular Screening and Therapy.

The third annual Paul M. Fernhoff Memorial Lecture was held Thursday, September 17, 2015. Dr. Philip Farrell’s keynote address is available here entitled “A Miraculous New Era for Cystic Fibrosis: … More →

Direct to Consumer Telemedicine Application

Lloyd Sirmons presents on Direct to Consumer Telemedicine Application, with focus on how the DTC market changed with the onset of COVID-19.

The Clinical and Molecular Complexity of Split-hand/foot Malformation

The Art of Choosing

Dr. Iyengar presents on the implications of choice.

Telegenetics in Region 3 (SERC): Past Successes and Plans for the Future

Dr. Andersson speaks about telegenetics activities in the Southeast Region Collaborative. This is the first of a two-part presentation along with Dr. David Flannery (presentation also available on SERC).

State Statutes and Legislation Related to Coverage of Dietary Treatments of Heritable Disorders

Keynote Address: “State Statutes and Legislation Related to Coverage of Dietary Treatments of Heritable Disorders” Meg Comeau, MHA, Catalyst Center, Boston University School of Public Health

Skeletal Dysplasia: Overview and Emerging Therapies

Dr. Bober presents on skeletal dysplasia.