Rani Singh PhD
- Department of Human Genetics
Professor
- (404) 778-8519
- rsingh@emory.edu
- Singh Research Group Lab
-
101 Woodruff Circle
Suite 7130
Atlanta, GA 30322
Overview
Nutritional care is an essential component for the management of genetic disorders, which has been validated by numerous studies and become increasingly important with the adoption of expanded newborn screening.
Developing a comprehensive, research-based nutrition program that can serve as a national model is one of the driving forces in my career. As part of that commitment, I serve as the principal investigator for the Southeast Regional Genetics Network (SERN), which addresses gaps in genetic services and is funded through the federal Health Resource and Services Administration (HRSA).
In addition, I foster collaborative research with investigators and clinicians throughout the U.S., spearheading evidence- and consensus-based guidelines for nutrition, metabolism, and rare genetic disorders. These guidelines were accepted by the Agency for Healthcare Research and Quality (AHRQ) and are available to providers worldwide to improve patient outcomes.
Our metabolic clinic brings together a large pool of patients with rare diseases, creating a unique clinical, teaching, and research resource for students, clinicians, and researchers. In 2019, we became the first institution to offer both post-masters and post-doctoral nutrition clinical research fellowship training in this specialized field and are now expanding global training utilizing Extension for Community Healthcare Outcomes (ECHO) model through electronic Genetic Nutrition Academy (eGNA).
Our research focuses on the development of nutritional treatment recommendations that promote optimal growth and development and prevent adverse neurological and health consequences in individuals with genetic metabolic disorders.
Academic Appointment
- Professor, Human Genetics, Emory University
- Professor, Department of Pediatrics,, Emory University
- Faculty, Nutrition and Health Sciences, Emory University
Education
Degrees
- MEd from Georgia State University
- BS from Lady Irwin College
- Post-Bac from Lady Irwin College
- PhD from University of Georgia
Research
Focus
-
Nutrition therapy
Nutrition therapy is pivotal in the treatment of individuals diagnosed with genetic disorders and inborn errors of metabolism (IEMs), including all patients identified through newborn screening. The focus of our work at both regional and national levels includes: 1) developing and assessing approaches to research-based programmatic nutrition interventions, 2) evaluating the efficacy of restrictive diets for IEMs, and investigating the relationships between genotypes, metabolomics, and nutrition interventions as they relate to treatment outcomes.
Publications
-
Qualitative assessment of primary care providers' attitudes toward genetic services and genetics education.
J Community Genet Volume: 16 Page(s): 131 - 137
04/01/2025 Authors: Kenneson A; Thornton Y; Cole C; Iyer S; Rosen AR; Singh RH -
Human Milk Feeding in Inherited Metabolic Disorders: A Systematic Review of Growth, Metabolic Control, and Neurodevelopment Outcomes.
J Inherit Metab Dis Volume: 48 Page(s): e70001
03/01/2025 Authors: Ilgaz F; Hller A; Marsaux C; Banta-Wright S; Cokun T; Dingess KA; Jrg-Streller M; Newby C; Singh R; Stahl B -
Corrigendum to "Evaluating change in diet with pegvaliase treatment in adults with phenylketonuria: Analysis of phase 3 clinical trial data" [Molecular Genetics and Metabolism 141, Issue 3 (2024) 108122].
Mol Genet Metab Volume: 143 Page(s): 108613
12/01/2024 Authors: Rohr F; Burton B; Dee A; Harding CO; Lilienstein J; Lindstrom K; MacLeod E; Rose S; Singh R; van Calcar S -
Assessing the lived experiences of females with phenylketonuria in their health management.
Mol Genet Metab Rep Volume: 40 Page(s): 101095
09/01/2024 Authors: Aronoff A; Guan Y; Gurung S; Comeau DL; Singh RH -
Delivering Telegenetics Services: Review and Synthesis of Best Practices.
Telemed J E Health Volume: 30 Page(s): e2232 - e2239
08/01/2024 Authors: Flannery D; Alverson D; Greene C; Krupsinksi E; Mann S; Terry A; Thomas J; Lyon M; Singh R; Dean LW -
Characteristics and outcomes of pregnancies among women with phenylketonuria from the NBS Connect registry.
Mol Genet Metab Rep Volume: 39 Page(s): 101092
06/01/2024 Authors: Kenneson A; Borth MI; Singh RH -
Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program.
Mol Genet Metab Rep Volume: 39 Page(s): 101084
06/01/2024 Authors: Harding CO; Longo N; Northrup H; Sacharow S; Singh R; Thomas JA; Vockley J; Zori RT; Bulloch Whitehall K; Lilienstein J -
The relationship between working memory and anxiety in individuals with early treated phenylketonuria (PKU).
Neuropsychology Volume: 38 Page(s): 368 - 378
05/01/2024 Authors: Boland KM; Schoen MS; Singh RH; Clocksin HE; Cissne MN; Christ SE -
COVID-19 Stress and Child Behavior: Examining Discrimination and Social Support in Racially Diverse ECHO Cohorts.
J Am Acad Child Adolesc Psychiatry Volume: 63 Page(s): 528 - 538
05/01/2024 Authors: Brennan PA; Nozadi SS; McGrath M; Churchill ML; Dunlop AL; Elliott AJ; MacKenzie D; Margolis AE; Ghassabian A; McEvoy CT -
The efficacy of Carbamylglutamate impacts the nutritional management of patients with N-Acetylglutamate synthase deficiency.
Orphanet J Rare Dis Volume: 19 Page(s): 168
04/18/2024 Authors: Singh RH; Bourdages M-H; Kurtz A; MacLoed E; Norman C; Ratko S; van Calcar SC; Kenneson A