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2017 Annual Meeting for SERN/SERGG - July 20-22 in Asheville, NC
2017 Annual Meeting for SERN/SERGG - July 20-22 in Asheville, NCThe 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/…

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…

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…

Individuals with Sickle Cell Disease or Inherited Metabolic Disorders who have Successfully Transitioned from Pediatric to Adult Care Needed for Online Survey Participation
Individuals with Sickle Cell Disease or Inherited Metabolic Disorders who have Successfully Transitioned from Pediatric to Adult Care Needed for Online Survey ParticipationResearch OpportunityResearchers with SERC Medical Home & Transitioning Workgroup and SERC Consumer Alliance are are recruiting individuals ages 25-35 (and/or their parent or caregiver) who has successfully completed the healthcare transitioning process from pediatric to adult care. This is the first study of its kind using a Delphi survey technique from the consumer perspective. Participants must be willing to complete 3 rounds of online surveys for a one hour time commitment.   For more information, contact the SERC study coordinator Mary Lauren Salvatore at mlsalva@emory.edu or (404) 778-8527.SERC is a HRSA-Supported Partnership -- GRANT #H46MC24090…

Limestone Life article highlights PKU (Athens, AL)
Limestone Life article highlights PKU (Athens, AL) Athens, AL based magazine Limestone Life features an article in their latest edition about Adam and Julie Tucker and their daughter who is diagnosed with PKU: Local Mom Works to Generate Support for Rare Disorder…

Introducing the NBS Connect patient registry!
Introducing the NBS Connect patient registry!NBS Connect http://nbsconnect.org 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. The registry was launched with NBS-PKU Connect for Phenylketonuria, then NBS-MSUD Connect for Maple Syrup Urine Disease. The next phase is now available with. NBS-TYR Connect for Tyrosinemia. Expansion of the registry will continue to include other disorders in the recommended uniform screening panel (RUSP), endorsed by the American College of Medical Genetics (ACMG)We encourage patients affected with PKU, MSUD and Tyrosinemia to visit the website at www.nbsconnect.org , 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…

2016 Annual Meeting for SERC/SERGG - July 14-16 in Ponte Vedra Beach, Florida
2016 Annual Meeting for SERC/SERGG - July 14-16 in Ponte Vedra Beach, FloridaThe next annual SERC/SERGG meeting will be held July 19-21 at the Sawgrass Marriott Hotel in Ponte Vedra Beach, Florida.  Register today on the SERGG website.* Call for Abstracts* Accommodations* Directions* Participant Registration…

SERN Highlights
June 2017

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

2017 Annual Meeting for SERN/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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