“New Gene Discovery and Other Insights from Diagnostic Evaluations in the Undiagnosed Diseases Network” by Loren Pena, MD, Undiagnosed Disease Network, Duke University.
Dr. Koeberl presents on glycogen storage disease.
Dr. Ledbetter presents on patient care for rare genetic diseases.
Overview of the newborn screening process and what to do next for a positive newborn screening result
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.
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.
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.
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.
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
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.
Provide patients with information on what to expect during your telehealth visit
This infographic provides in-depth information to families about telegenetics.
This checklist helps families prepare for a telemedicine visit.
This worksheet helps families prepare for a telemedicine visit.
A 3-part video series, in both English and Spanish, by the Midwest Regional Genetics Network.
Dr. Bochinni presents on SACHDNC activities.
Dr. Hinton presents on newborn screening for critical congenital heart disease.