Newborn Screening and Molecular Biology Branch

The Newborn Screening and Molecular Biology Branch (NSMBB) has the only laboratory in the world devoted to ensuring the accuracy of newborn screening tests in every state and more than 78 countries. Newborn screening is a vital public health program that tests babies for congenital disorders that are not apparent at birth. The Newborn Screening Quality Assurance Program (NSQAP) develops analytical methods to measure substances in dried blood spots (DBSs) and produces certified DBS quality-control and reference materials for newborn screening tests. Because of NSQAP, parents and doctors in the United States and worldwide can trust the results of newborn screening tests.

In 2005, the Branch launched the Newborn Screening Translation Research Initiative (NSTRI) as an ongoing collaboration with the CDC Foundation. Working with corporate, academic, and foundation partners, NSTRI assures the quality of research methods during pilot studies and into routine screening. Since its inception, NSTRI has developed laboratory projects focusing on a variety of disorders, including lysosomal storage disorders and severe combined immune deficiency.

NSMBB also conducts research, develops methods, and performs analyses by using complex, state-of-the-art molecular techniques for identifying genetic risk factors of public health importance. A variety of diseases have been or are currently the topic of study, including type 1 diabetes and kidney disease, asthma, type 2 diabetes, ischemic stroke, an iron-overload disease known as hemochromatosis, birth defects, and acute lymphoblastic leukemia.

NSMBB is home to a total of 41 staff, including 14 people with Ph.D.s, 5 people with M.S. degrees, and 23 people with B.S. or other degrees.

Did You Know?

• The Newborn Screening Laboratory prepares nearly one million dried blood spot reference specimens each year and distributes them to laboratories in every U.S. state and territory as well as to laboratories in more than 78 countries.