|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".
|2018 Annual Meeting for SERN/SERGG - July 19-21 in Asheville, NC|
The next annual SERC/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/…
|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…
|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|
The 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 email@example.com. …
|Meeting Announcement: Advisory Committee on Heritable Disorders in Newborns and Children - May 11-12, 2017|
Announcement: 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 firstname.lastname@example.org.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 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 |
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|
Dear 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…
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/