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News and Events  
September is Newborn Screening Awareness Month
September is Newborn Screening Awareness MonthIn 1963, Dr. Robert Guthrie and his colleague published a paper—A Simple Phenylalanine Method for Detecting Phenylketonuria in Large Populations of Newborn Infants—and his test ushered in a new era. It marked the first time newborns could be screened and receive treatment for a disease before symptoms even appeared. That…

New video on hereditary cancer screening and prevention
New video on hereditary cancer screening and preventionGenetic Alliance, in partnership with the CDC Office of Public Health Genomics, is excited to announce the launch of a new video focused on hereditary cancer screening and prevention! More than one million people in the United States are at increased risk for adverse health outcomes caused by Lynch syndrome and…

Test reliably detects inherited immune deficiency in newborns
Test reliably detects inherited immune deficiency in newbornsNIH-supported study suggests that early diagnosis of severe combined immunodeficiency leads to high survival rates A newborn screening test for severe combined immunodeficiency (SCID) reliably identifies infants with this life-threatening inherited condition, leading to prompt treatment and high survival rates, according to a study supported by the National Institutes of Health.…

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Patients & Families
Find disorder specific information as well as other resources for patients and families.
Resources for health care and public health professionals interested in newborn screening (NBS) & genetics.
2014 SERC/SERGG Anuual Meeting

Save the Date!
The 2014 SERC/SERGG meeting will be held July 17-19 at Sawgrass Marriott Hotel in Ponte Vedra Beach, FL.

Featured Content
October 2014

Introducing the NBS Connect patient registry!

Introducing the NBS Connect patient registry!

NBS Connect has been designed as a resource for those affected by certain disorders included in the newborn screening (NBS) panel. Extensive development of the registry will occur via a phased approach using Phenylketonuria (PKU) as the model disorder. We have recently launched the Maple Syrup Urine Disease (MSUD) patient profile, which will be followed by other disorders in the NBS panel recommended by the American College of Medical Genetics ACMG).

We encourage patients affected with PKU and MSUD to visit the website at , register and complete their participant profiles. Participants will have access to disorder specific education materials, information on the latest research and clinical trials, recipes, interactive health tracking systems, “Ask an Expert” tools and more. We hope you will take advantage of the resources provided which will empower you to make more informed healthcare decisions.

This registry will be an asset both for forming connections between consumers and for building a qualitative database for future research.

If you have any questions, please email the project manager Yetsa Osara at

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© 2006, 2007, 2009, 2010, 2011, 2012, 2013   —   SOUTHEAST NBS & GENETICS COLLABORATIVE   —   A HRSA SUPPORTED PARTNERSHIP   —   GRANT #H46MC24090