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Tyrosinemia Type I: Making Connections Count - Meeting Agenda
Tyrosinemia Type I: Making Connections Count - Meeting AgendaThe Tyrosinemia Type I: Making Connections Count Meeting will be held in Atlanta, GA from May 25th-May 26th, 2017.The meeting will provide families in the US to connect with one another and to understand the clinical needs of medical nutrition management.  Here is a detailed agenda of the meeting.  If you have any questions, please contact Theresa Pringle at theresa.pringle@emory.edu.  …

Meeting Announcement: Advisory Committee on Heritable Disorders in Newborns and Children - May 11-12, 2017
Meeting Announcement:  Advisory Committee on Heritable Disorders in Newborns and Children - May 11-12, 2017Announcement: The next meeting for the Advisory Committee on Heritable Disorders in Newborns and Children will be held in-person and via webcast on May 11, 2017, 9:30 a.m. to 5:00 p.m. and May 12, 2017, 9:30 a.m. to 3:00 p.m. The address for the meeting is 5600 Fishers Lane, 5th Floor Pavilion, Rockville, MD 20857.  Registration: This meeting will be open to the public but advance registration is required. The registration link is http://www.achdncmeetings.org/. The online registration deadline is Thursday, May 4, 2017, 5:00 p.m. Eastern Time. For technical problems gaining access to the registration website, please email Morgan Pinckney at mpinckney@lrginc.com.Agenda: The agenda is still being finalized, but meeting topics will include:(1) Identifying and following up on out of range newborn screening results(2) CDC’s Newborn Screening Quality Assurance Program(3) Implementation of Critical Congenital Heart Defects screening(4) A Report on Medical…

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…

SERC Highlights
May 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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