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Implementation of Newborn Screening for SCID - Carla Cuthbert PhD, FACMG, FCCMG
Implementation of Newborn Screening for SCID  
SERC Lunch and Learn #2
Emory University
Department of Human Genetics
Atlanta, GA  
Date
February 10th, 2011
Length
51:21

About the Presentation
Dr. Carla Cuthbert gives a brief overview of Severe Combined Immunodeficiency (SCID), its addition to the Recommended Uniform Newborn Screening Panel, and the CDC’s role in the implementation of SCID screening.

Presenter Biography
Dr Cuthbert is the Chief of the Newborn Screening and Molecular Biology Branch, at the National Center for Environmental Health at the CDC. The Branch comprises several quality assurance, public health service, test development and translational research activi- ties. The Newborn Screening Quality Assurance Program (NSQAP) is devoted to ensuring the accuracy of newborn screening tests in every state and more than 78 countries. Service activities include proficiency testing, development of quality control and reference blood spot materials, filter paper evaluation, training and consultation. The mission of the Newborn Screening Translation Research Initiative (NSTRI) is to assure that the translation of research methods into routine laboratory tests for newborn screening leads to sustainable high-quality testing and healthier babies worldwide. Its activities include development of new screening methods for spe- cific diseases (eg LSDs and SCID) and integrating State Public Health Laboratories into the translation process through collaborative field studies (eg SCID pilot programs with Wisconsin and Massachusetts). The Newborn Screening Molecular Biology Team functions to facilitate and enhance newborn screening through molecular testing. Its activities include collaboration with screening laboratories for method development, technology transfer and providing expertise.


Prior to her work at the CDC, Dr Cuthbert was a Biochemical Genetics Laboratory Director at the University of Miami, overseeing all aspects of laboratory management and reporting, providing consultation for physicians, staff and other healthcare professionals for patients with inborn errors or metabolism. She also has a strong interest in education and was the instructor for the ABMG General Genetics Review and the Clinical Biochemical Genetics Review courses offered to Medical Genetics Fellows and Residents at the Uni- versity of Miami.


Dr Cuthbert’s Fellowship in Biochemical Genetics at the Hospital for Sick Children in Toronto sparked an early interest in small molecule method development using tandem mass spectrometry for the diagnosis of inborn errors of metabolism. During subsequent fellowships at the Mayo Clinic in Rochester, Minnesota (Biochemical Genetics and Clinical Chemistry), her projects included mass spectrometry method development of steroid markers for Congenital Adrenal Hyperplasia and development of assays for homocys- teine and methylmalonic acid in dried blood spots as second-tier NBS markers for elevated methionine and propionylcarnitine respec- tively.


Dr. Cuthbert is board-certified in Clinical Laboratory Biochemical Genetics from both the American College of Medical Genetics and the Canadian College of Medical Geneticists. She is also a candidate for the American Board of Clinical Chemistry.

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