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Tasting Tradition Discussion Panel - Free webinar on PKU diet and meal planning
Tasting Tradition Discussion Panel - Free webinar on PKU diet and meal planningDear PKU Community, On Tuesday, December 19th at 12 PM EST, Baby's First Test is hosting a discussion panel on newborn screening around the dinner table! Our panelists will discuss their personal experience with special diets as well as their challenges and successes with meal planning during the holidays, including their favorite recipes, traditions, and resources! The panel will be hosted through Zoom , a free, online meeting platform. To join the meeting, simply click this link to register.…

National PKU Awareness Day: December 3, 2017
National PKU Awareness Day: December 3, 2017The first National PKU Awareness Day, December 3, 2012, was established by a Congressional Resolution introduced by two U.S. Senators (Johnny Isakson from Georgia and John Kerry from Massachusetts). The resolution explains what PKU is, the history of PKU, and the importance of sharing information about PKU with others. Join the celebration and spread awareness with Emory University Department of Human Genetics! SPREAD AWARENESS TO YOUR SOCIAL MEDIA NETWORK If you use social media platforms such as Twitter, Facebook, or Google+, post on your status an announcement for National PKU Awareness Day on December 3rd . Share the following web links: Emory Resources for individuals and families affected by PKU Metabolic Genetics Nutrition Program http://genetics.emory.edu/patient-care/metabolic-genetics-nutrition/index.html Medical Nutrition Therapy for Prevention (MNT4P) https://mnt4p.genetics.emory.edu/highlights/ Newborn Screening (NBS) Connect Patient Registry http://nbsconnect.org Metabolic Camp http://metcamp.net http://news.emory.edu/stories/2017/08/video_maternal_pku/campus.html Non-profit organizations that collaborate with Emory to support individuals and families affected by PKU…

2018 Annual Meeting for SERN/SERGG - July 19-21 in Asheville, NC
2018 Annual Meeting for SERN/SERGG - July 19-21 in Asheville, NCThe next annual SERN/SERGG meeting will be held July 19-21, 2018 at Renaissance Asheville Hotel in Asheville, NC. More information available on the SERGG website: http://sergg.org/…

SERN Lunch and Learn available for viewing:
SERN Lunch and Learn available for viewing: We are proud to announce the availability of our latest Lunch and Learn series with Dr. Matt Hawkins.   Today's talk is titled, "Project ECHO: The democratization of medical knowledge".  http://southeastgenetics.org/presentation.php/108/Project_ECHO_The_democratization_of_medical_knowledge  …
Keywords: telemedicine

Moms and future moms with rare inherited disorder aim for healthy babies
Moms and future moms with rare inherited disorder aim for healthy babies"Pregnant women with PKU face special challenges like the threat of having a child with developmental delays even if the baby doesn't have PKU. Maternal PKU refers to any number of fetal abnormalities that result from an expecting mother with PKU who has excessive Phe levels in her blood. So even though a woman with PKU may not have symptoms herself, because she's adhered to a restrictive diet throughout her youth, her baby could still face devastating consequences if she lapses during pregnancy."Full article and video here: http://news.emory.edu/stories/2017/08/video_maternal_pku/campus.html…

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…

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…

SERN Highlights
January 2018

2018 Annual Meeting for SERN/SERGG - July 19-21 in Asheville, NC

2018 Annual Meeting for SERN/SERGG - July 19-21 in Asheville, NC

The next annual SERN/SERGG meeting will be held July 19-21, 2018 at Renaissance Asheville Hotel in Asheville, NC.

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

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