Family

New Gene Discovery and Other Insights from Diagnostic Evaluations in the Undiagnosed Diseases Network

“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 in therapy for glycogen storage disease

Dr. Koeberl presents on glycogen storage disease.

Enhancing Knowledge and Improving Patient Care for Rare Genetic Diseases: Engagement of families, clinicians and clinical labortories

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.

What to Expect From a Telehealth Visit

Provide patients with information on what to expect during your telehealth visit

TeleWhat? An Introduction to Telegenetics

This infographic provides in-depth information to families about telegenetics.

Preparing for a Successful Telehealth Visit Checklist

This checklist helps families prepare for a telemedicine visit.

Preparing for a Successful Telehealth Visit Worksheet

This worksheet helps families prepare for a telemedicine visit.

Introduction to Healthcare Through Telemedicine

A 3-part video series, in both English and Spanish, by the Midwest Regional Genetics Network.

Genetic Services Video

Spanish Interpreter Video

Genetics Clinic in the 21st Century

Update on Activities of the Secretary’s (Discretionary) Advisory Committee on Heritable Disorders in Newborns and Children

Dr. Bochinni presents on SACHDNC activities.

Newborn Screening for Critical Congenital Heart Disease

Dr. Hinton presents on newborn screening for critical congenital heart disease.