Rani Singh, Ph.D.



Division of Medical Genetics, Nutrition Section

Office: Woodruff Memorial Research Building, 7133

Phone: 404-778-8519

Email: rsingh@emory.edu

Additional Contact Information

Mailing Address:

Emory University - Department of Human Genetics

Woodruff Memorial Research Building
101 Woodruff Circle, 7th Floor, Suite 7130

Atlanta, GA 30322

Additional Websites

Research Interests

Nutritional care is an essential component for the management of genetic disorders. Developing a comprehensive clinical nutrition program both for inpatients and outpatients with inborn errors of metabolism that can serve as a national model of clinical care has been a high priority in my career. My research interests focus on optimizing nutritional treatment of genetic disorders and developing patient education and community outreach strategies through the Emory Genetics Metabolic Nutrition Program. The goals of these clinical research efforts are to develop nutritional treatment recommendations that promote optimal growth and development, and prevent adverse neurological and health consequences in individuals with genetic metabolic disorders.

Current research aimed at advancing treatment strategies include:

  • investigations of the relationship of individual genotypes and nutrition interventions as they relate to treatment outcomes and
  • interventions designed to effectively transition nutrition management from childhood to adulthood. Other critical avenues to assure optimal nutritional care include recent programmatic efforts to bridge nutritional care with expanded Newborn Screening and genetics services provided through national programs.


  • PhD, Nutrition, University of Georgia, 1989
  • Postdoctoral research fellow, Emory University School of Medicine, Department of Pediatrics, Division of Medical Genetics, 1990-1992


Published and Accepted Research Articles in Refereed Journals

  • Quirk ME, Schmotzer BJ, Singh RH. Predictive equations underestimate resting energy expenditure in female adolescents with phenylketonuria. J Am Diet Assoc. 2010 Jun;110(6):922-5.PMID: 20497783
  • Weaver MA, Johnson A, Singh RH, Wilcox WR, Lloyd-Puryear MA, Watson MS. Medical foods: Inborn errors of metabolism and the reimbursement dilemma. Genet Med. 2010 Jun;12(6):364-9.PMID: 20445457
  • Mazer LM, Yi SH, Singh RH. Docosahexaenoic acid status in females of reproductive age with maple syrup urine disease. J Inherit Metab Dis. 2010 Apr;33(2):121-7. Epub 2010 Mar 9.PMID: 20217236
  • Kemper AR, Brewer CA, Singh RH. Perspectives on dietary adherence among women with inborn errors of metabolism. J Am Diet Assoc. 2010 Feb;110(2):247-52.PMID: 20102852
  • Yi S, Singh RH. Protein substitute for children and adults with phenylketonuria. Cochrane Database of Systematic Reviews. In press.
  • Singh RH, Jurecki E, Rohr F. Recommendations for personalized dietary adjustments based on patient response to Tetrahydrobiopterin (BH4) in phenylketonuria. Top Clin Nutr. 23:(No.2)149-157, 2008.
  • Singh RH, Kaczmarczyk MM. Standards of professional practice for genetic metabolic dietitians. Genet Med. 10(4):290-293, 2008.
  • Gregory CO, Yu C, Singh RH. Phenylalanine monitoring for dietary compliance among patients with phenylketonuria: comparison of methods. Genet Med. 9:761-765, 2007.
  • Singh RH. The enigma of medical foods. Molecular Genetics and Metabolism. 92:3-5, 2007.
  • Singh RH. Nutritional Management of Patients with Urea Cycle Disorders. Journal of Inherited Metabolic Disease. 30(No.6)880-887, 2007.

Book Chapters

  • Singh RH. Homocystinuria. Pediatric Nutrition in Chronic Diseases and Development Disorders: Prevention, Assessment, and Treatment. Ekvall, SW (Ed). Oxford University Press, New York, NY, 2005.
  • Singh RH. Maple Syrup Urine Disease. Pediatric Nutrition in Chronic Diseases and Development Disorders: Prevention, Assessment, and Treatment. Ekvall, SW (Ed). Oxford University Press, New York, NY, 2005.

Manuals, Videos, Computer Programs, and Other Teaching Aids

2001 - Present

PKU Food Exchange List

Emory University Press

2002 - Present

MSUD Food Exchange List

Emory University Press


Low-Protein Cooking Conference


In Press

Nutritional Management of Urea Cycle Disorders: a practical reference for clinicians