SERN | Southeast NBS & Genetics Regional Collaborative

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Long-Term Follow-Up Workgroup


A newborn screening (NBS) system that operates between an established public health infrastructure and a follow-up infrastructure includes seven basic functions: education, screening, follow-up, confirmatory testing and diagnosis, treatment/management, outcome assessment, and system quality assurance. The Southeast Genetics Collaborative conducted a regional needs assessment that revealed several gaps in the functioning of the NBS system and the degree to which each system addressed the seven NBS system functions.  Among the gaps that were identified was the need to improve the long-term management of disorders detected by NBS.  The Long-Term Follow-Up (LTFU) Workgroup was established to address the need to improve long-term care of patients identified with NBS disorders.    


Rani Singh, PhD, RD, Chair

Nutrition Management Guidelines Portal

The Nutrition Managment Guideline project develops nutrition guidelines for the management of genetic metabolic disorders for which there is little published scientific evidence. Both evidence-based and consensus-based methods are used in creation of the guidelines. This process incorporates the best evidence, including published literature, "gray" literature (such as clinical protocols), and consensus of practitioners who work with metabolic disorders. Our consensus based portion will utilize both the Delphi Survey technique and the Nominal Group technique.

Under the helm of PI Rani Singh, PhD, RD (Southeast NBS and Genetics Collaborative) and co-PI Fran Rohr, MS, RD, LDN (Genetic Metabolic Dietitians International), four workgroups have been created to develop the guidelines (Amino Acidopathies, PKU, Organic Acidopathies, and Fatty Acid Oxidation Disorders). Each workgroup is made up of dietitians from all regions of the United States and utilizes the expertise of our partner organization, GMDI. Each workgroup will develop one guideline at a time and will take approximately one year to complete. The completed guidelines will be published on both the SERC and GMDI website.

NBS Connect Patient Registry NBS Connect is a Patient Registry that aims to improve the long-term health of those diagnosed with disorders identified through newborn screening (NBS). NBS Connect serves as a valuable resource for researchers, healthcare professionals, as well as patients and their families.


Selected Publications

Peer-reviewed journal article

Singh RH, Hinman AR. Newborn dried bloodspot screening: Long-term follow-up activities and information system requirements. Genet Med. Dec;12(12 Suppl):S261-6. 2010  PMID: 21150373

Singh RH, Hinman AR, Wild E. Building a model for a comprehensive newborn screening system long-term follow-up information system. Mol Genet and Metab, 2009.

SERN Highlights
October 2019

SERN Lunch and Learn Announcement Friday, October 18, 2019

Please join us on Friday, October 18, 2019,at 12:00 pm (noon) in the

7th Floor Conference Room

Woodruff Memorial Research Building

101 Woodruff Circle  

for our

SERN Lunch and Learn Series.

A flyer is attached for your review.

Our speaker will be:

Judith Fridovich-Keil, PhD


Emory University

School of Medicine

Department of Human Genetics

The title of her presentation is:

“Rethinking Duarte Galactosemia”

Pizza will be provided

Please RSVP by Friday, October 11th to  

Live presentation via internet is available.

Email and

 for web reservations.

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