Professional

Meg Comeau, MHA — State Statutes and Legislation Related to Coverage of Dietary Treatments of Heritable Disorders (SERN/SERGG 2017)

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

Michael Bober, MD, PhD — Skeletal Dysplasia: Overview and Emerging Therapies (SERN/SERGG 2013)

Dr. Bober presents on skeletal dysplasia.

Stuart Shapira, MD, PhD — Routine Second Testing in Newborn Screening for Hypothyroidism and Congenital Adrenal Hyperplasia: Is One Screening Test Sufficient? (SERN/SERGG 2012)

Dr. Shapira presents on Newborn Screening for Hypothyroidism and Congenital Adrenal Hyperplasia.

Pedro Juan Santiago Borrero, MD — Researching Genetic Diseases in Puerto Rico (SERN/SERGG 2011)

Dr. Santiago presents on genetic disease research in Puerto Rico.

Project ECHO “The democratization of medical knowledge

Dr. Hawkins presents, “Project ECHO: The democratization of medical knowledge”

Emily Lisi, MS, CGC — The Current Status of Direct-to-Consumer Genetic Testing (SERN/SERGG 2017)

Invited Speaker: Emily Lisi, MS, CGC – Mayo Clinic “The Current Status of Direct-to-Consumer Genetic Testing”

The Exciting World of Genetics in India – From Clinical to Chromosomes, and Metabolic to Molecular

Dr. Verma presents on genetics in India.

The Importance of Standardization of Language and Coding for Newborn Screening

Dr. Zuckerman presents at the 2010 SERGG Annual Meeting.

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

Kirk L. Pappan, PhD — Using Clinical Metabolomics to Screen for Inborn Errors of Metabolism (SERN/SERGG 2017)

Dr. Pappan presents, “Using Clinical Metabolomics to Screen for Inborn Errors of Metabolism”

Update on Congenital Disorders of Glycosylation

Dr. Morava presents at Tulane University on Congenital Disorders of Glycosylation.

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.

Bruce Korf, MD, PhD — Training and Education of Clinical and Laboratory Geneticists (SERN/SERGG 2011)

Dr. Korf presents on training and education of clinical and laboratory geneticists.

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.

Cindy L. Vnencak-Jones, PhD, FACMG — Precision Medicine for the Right Drug at the Right Dose on the First Time (SERN/SERGG 2017)

Invited Speaker: Cindy L Vnencak-Jones PhD – Vanderbilt University “Precision Medicine for the Right Drug at the Right Dose on the First Time”

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.

Lisa Kobrynski, MD, MPH — Newborn Screening Severe Combined Immunodeficiency T Cell Lymphopenia (SERN/SERGG 2011)

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

ISCA (International Standards for Cytogenomic Arrays)

Dr. Ledbetter presents at the 2010 SERGG Annual Meeting.