What’s New in Newborn Screening – July 2010

Dr. Therrell presents at the 2010 SERGG Annual Meeting.

Elizabeth Krupinski, PhD — Vision for Telemedicine (SERN/SERGG 2017)

“Vision for Telemedicine” Elizabeth A. Krupinski, PhD, Emory University School of Medicine

Julie Jones, PhD — Understanding Autism Spectrum Disorders (ASD): GGC’s Piece of the Puzzle (SERN/SERGG 2012)

Dr. Jones presents on autism spectrum disorder.

Sandra Sims, MD, FRCP — Transition to Adult Health Care (SERN/SERGG 2012)

Dr. Sirrs presents on transitioning to adult health care.

Muin Khoury, MD, PhD — The Scientific Foundation for Using Personal Genomics to Improve Health and Prevent Disease (SERN/SERGG 2011)

Dr. Khoury presents at the 2011 SERC-SERGG Annual Conference.

Pompe Disease: Newborn Screening Initiative in the US

Stephanie DeArmey presents “Pompe Disease: Newborn Screening Initiative in the US”. Note that due to PHI, portions of the video slides are blacked out. The audio will continue to play.

Geoffrey Ginsburg, MD, PhD — Genomic and Personalized Medicine: Foundations to Applications (SERN/SERGG 2011)

Dr. Ginsburg presents at the 2011 SERC-SERGG Annual Conference.

Genetic Telemedicine from the Medical College of Georgia / Georgia Health Sciences University: 1995 to the Present

This is the second in a two-part presentation (video also available on SERC).

Cecelia Bellcross, MS, CGC, PhD — Genetic Risk Profiling for Prediction of Common Diseases (SERN/SERGG 2012)

Dr. Bellcross presents on genetic risk profiling.

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.

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.

Dwight Koeberi, MD, PhD — New developments in therapy for glycogen storage disease (SERN/SERGG 2013)

Dr. Koeberl presents on glycogen storage disease.

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.

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

SERN Emergency Medical Food Access Fact Sheet

Following the onset of the COVID-19 pandemic, this fact sheet was developed to provide patients with a list of contact information from metabolic formula companies and family organizations in the metabolic community.