Newborn Screening Videos

Pathway to Newborn Screening Facilitated by Collaborations with a Parent Organization A Case Scenario: GAMT Deficiency

As a part of the SERN Lunch and Learn series, Heidi Wallis and Marzia Pasquali, PhD, FACMG discussed how they collaborated to have GAMT (guanidinoacetate N-methyltransferase) Deficiency recommended for being … More →

The Early Check Expanded Newborn Screening Study in North Carolina

As a part of the SERN Lunch and Learn series, Holly Peay, Ph.D., MS, and Cynthia Powell, MD, MS discussed their research on expanding newborn screening in North Carolina for … More →

What are Chromosomes and Genes? Video in Spanish

Overview of the concepts of genes and chromosomes, the basics of genetics. The video is in Spanish with English subtitles.

A Miraculous New Era for Cystic Fibrosis: Impact of Molecular Screening and Therapy.

The third annual Paul M. Fernhoff Memorial Lecture was held Thursday, September 17, 2015. Dr. Philip Farrell’s keynote address is available here entitled “A Miraculous New Era for Cystic Fibrosis: … More →

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.

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.

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.

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.

Amy Yang, MD, FACMG — Newborn Screening for Pompe Disease: Lessons Learned from New York (SERN/SERGG 2017)

Dr. Amy Yang presents “Newborn Screening for Pompe Disease: Lessons Learned from New York”

Newborn Screening, Lysosomal Storage Disease

New developments with fatty acid oxidation defects

On March 1, 2010, Dr. Michael J. Bennett of The Children’s Hospital of Philadelphia presented “New developments with fatty acid oxidation defects” at Emory University’s Grand Rounds in Atlanta, GA.

Newborn Screening Video

Overview of the newborn screening process and what to do next for a positive newborn screening result

Joseph Bocchini, PhD — Update on Activities of the Secretary’s (Discretionary) Advisory Committee on Heritable Disorders in Newborns and Children (SERN/SERGG 2013)

Dr. Bochinni presents on SACHDNC activities.

Cynthia Hinton, MS, MPH, PhD — Newborn Screening for Critical Congenital Heart Disease (SERN/SERGG 2012)

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

Olaf Bodamer, MD, PhD, FCCMG — Newborn Screening in the Genomic Era (SERN/SERGG 2014)

Alex Kemper, MD, MS, MPH — The SACHDNC Approach to Considering Conditions for Newborn Screening (SERN/SERGG 2013)

Dr. Kemper presents on the SACHDNC approach to considering conditions for newborn screening (NBS).

Meg Comeau, MHA — The Affordable Care Act: Implications for Newborn Screening and Children with Genetic Conditions (SERN/SERGG 2013)

Meg Comeau presents on the ACA.

Marci Sontag, PhD — NewSTEPs: Newborn Screening Technical assistance and Evaluation Program (SERN/SERGG 2013)

Dr. Sontag presents on NewSTEPs.