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FDA permits marketing of first newborn screening system for detection of four, rare metabolic disorders
FDA permits marketing of first newborn screening system for detection of four, rare metabolic disorders FDA News Release The U.S. Food and Drug Administration today permitted marketing of the Seeker System for the screening of four, rare Lysosomal Storage Disorders (LSDs) in newborns. The Seeker system is designed to detect Mucopolysaccharidosis Type I (MPS I), Pompe , Gaucher and Fabry . It is the first newborn screening test permitted to be marketed by the FDA for these disorders.LSDs are a group of rare, inherited metabolic disorders in which enzymes (proteins) that normally eliminate unwanted substances in the body's cells are not at normal levels or functioning properly. According to the U.S. Department of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children, MPS I, Pompe, Gaucher and Fabry occur in approximately 1 in 1,500 to no more than 1 in 185,000 newborns and children, depending on the disorder. If not detected…

New RTI International Program to Offer Free Elective Genetic Testing for North Carolina Newborns
New RTI International Program to Offer Free Elective Genetic Testing for North Carolina Newborns RESEARCH TRIANGLE PARK, NC - A new program offering free elective genetic testing for newborns, developed at RTI International, will become available to North Carolina parents starting in 2018, thanks to a grant from the National Institutes of Health. The program, called Early Check , grew from RTI's research on newborn screening , done in partnership with the North Carolina State Laboratory of Public Health, the University of North Carolina at Chapel Hill, Duke University, and Wake Forest Baptist Medical Center. All three sites are part of a national consortium of institutions that have received funding from the NIH through the Clinical and Translational Science Awards (CTSA) program. NIH, through the National Center for Advancing Translational Sciences (NCATS), will provide $1 million per year over five years to launch Early Check statewide, offering testing for one or more genetic conditions to up…

Cystic Fibrosis Foundation Consensus Guidelines for Diagnosis of Cystic Fibrosis Webinar - March 28, 2017
Cystic Fibrosis Foundation Consensus Guidelines for Diagnosis of Cystic Fibrosis Webinar - March 28, 2017Dear Colleagues,Last month the "Cystic Fibrosis Foundation Consensus Guidelines for Diagnosis of Cystic Fibrosis" were made available on TheJournal of Pediatrics website. We hope you have had the opportunity to read all the articles and learn about the new guidelines. If not, please be sure to read the first article in the Supplement which lists the consensus statements. (click here)Highlights from this publication will be shared in a webinar onTuesday, March 28, at 12 noon ETPhilip Farrell, MD: will discuss the guideline development process and sweat testingClement Ren, MD: will examine the differences from previous guidelines and CRMS/CFSPIDPatrick Sosnay, MD: will explain the CFTR2 project and application of genetic data to diagnosis.To get the most out of this presentation you are encouraged to read the linked guideline and answer 13 pre-webinar case-based questions (click here).  Cases will be discussed during the…

SERC Highlights
March 2017

2017 Annual Meeting for SERC/SERGG - July 20-22 in Asheville, NC

2017 Annual Meeting for SERC/SERGG - July 20-22 in Asheville, NC

The next annual SERC/SERGG meeting will be held July 20-22, 2017 at Renaissance Asheville Hotel in Asheville, NC.

More information available on the SERGG website: http://sergg.org/

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