Genetic Testing 101 - Webinar (presented by NORD)

Webinar replay from August 22 2018 provides an overview of the different types of genetic tests, indications for their use, and their benefits and limitations. The webinar will also include stories from patients and families who have had genetic testing and the impact it has had on their lives. This webinar will be of interest to patients, caregivers, advocates and students.

Presenter: Dr. Debra Regier is the Director of Genetic and Genomic Education at Children’s National Hospital. Her patient population includes general genetics, storage disorders, and metabolic diseases.  Her passion for patient outcomes has led her to pursue excellence in teaching the next generation of rare disease clinical providers. She is the Primary Investigator for the Rare Disease Clinical Research Scholar’s Program. This program offers early career rare disease researchers a curriculum designed to address the specific needs of rare disease clinical researchers. As a member of the Society for Inherited Metabolic Disorder’s Board of Directors, she has become the lead of a project to create educational content for newborn screening labs across the country. Regier is a member of the Education Committee at the National Organization for Rare Disorders.

Host: Mary Dunkle is Vice President of Educational Initiatives at the National Organization for Rare Disorders (NORD). In that role, she oversees the department responsible for educational outreach, partnerships, and resources for patients, caregivers, medical professionals, students and the public. Mary has been a member of the NORD staff for 18 years. Before joining NORD, she was on the staff of Pennsylvania State University for 11 years, first as a writer/editor in the office of the Vice President for Research and later as Manager of Penn State’s News Bureau.

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