Priya S. Kishnani, MD, MB BS



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Professor of Pediatrics
Division Chief, Medical Genetics
Department / Division:
Pediatrics / Pediatrics-Medical Genetics
DUMC 103856
595 Lasalle Street, GSRB 1
4th Floor, Room 4010
Durham, NC 27710
Appointment Telephone:
Office Telephone:
  • MB BS, Topiwala National College, Bombay (India), 1986
  • Pediatrics, Bombay University (India), 1987-1990
  • Pediatrics, Duke University Medical Center, 1990-1991
  • Genetics and Metabolism, Duke University Medical Center, 1992-1995
Clinical Interests:
Glycogen Storage Disease with focus on Types I, II, III, and Type IX (natural history, long-term complications, and treatment interventions); lysosomal storage diseases such as Gaucher, Pompe, Fabry, Mucopolysaccharidosis (long-term follow-up, natural history, and treatment interventions such as enzyme-replacement therapy, small molecule therapy); Down syndrome (long-term follow-up, management, and interventions to improve cognition); management and treatment of metabolic disorders such as fat acid-oxidation defects, urea-cycle disorders, mitochondrial disease
Research Interests:

A multidisciplinary approach to care of individuals with genetic disorders in conjunction with clinical and bench research that contributes to:
1) An understanding of the natural history and delineation of long term complications of genetic disorders
2) The development of new therapies for genetic disorders through translational research
3) The development and execution of large multicenter trials to confirm safety and efficacy of potential therapies
4) Role of antibodies/immune response in patients on therapeutic proteins.

. Down syndrome: The Duke Comprehensive Down syndrome (DS) clinic is a multidisciplinary clinic for the clinical care of approximately 700 children and young adults with Down syndrome. Research interests include establishing best practices for screening of celiac disease, thyroid dysfunction, and iron deficiency anemia. The Duke DS Research Team is evaluating the effects of cholinesterase inhibitors on cognition and behavior in children and young adults with Down syndrome. Research issues focus on establishing a standard dosing regimen and developing a sensitive and specific test battery to detect changes in language and cognitive ability. These studies are being performed at the Duke Clinical Research Unit at Duke. We are currently involved in a multi-center Phase 2 pediatric trial using donepezil, a cholinesterase inhibitor. The Duke DS Research team is also exploring how a national Down Syndrome registry program could be built and utilized to expand understanding of the condition.

. Lysosomal Storage Disease: The Duke Lysosomal Storage Disease (LSD) treatment center follows and treats patients with Pompe, Gaucher, Fabry, Mucopolysaccharidosis and other LSD's. The Duke Metabolism Clinical Research Team is exploring many aspects of enzyme replacement therapy (ERT), including impact on different systems, differential response, and long term effects. Other symptomatic and treatment interventions for this category of diseases are also being explored in the context of clinical care. The care team has extensive experience in the care of infants and adults with Pompe disease and was instrumental in conducting clinical trials and the bench to bedside work that led to the 2006 FDA approval of alglucosidase alfa, the first treatment for this devastating disease. We are currently focusing on role of antibodies/immune response on patient outcome and role of immunemodulation/immunesuppression as an adjunct to ERT.

. Glycogen Storage Disease: We are actively following subjects with all types of Glycogen Storage Disease, with particular emphasis on types I, II, III, IV, VI and IX. The goal of the treatment team is to better determine the clinical phenotype and long term complications of these diseases. Attention to disease manifestations observed in adulthood, such as adenomas and risk for HCC, is of paramount importance in monitoring and treating these chronic illnesses. We are establishing clinical algorithms for managing adenomas, and the overall management of these patients including cardiac, bone, muscle and liver issues.

. Neuromuscular disorders: We are collaborating with neurologists, cardiologists and neuromuscular physicians to serve as a treatment site for clinical trials in these diseases. We are currently involved in trials of DMD and are working closely on setting up collaborations for studies in SMA.
Representative Publications:
  • Hardy, O; Worley, G; Lee, MM; Chaing, S; Mackey, J; Crissman, B; Kishnani, PS. Hypothyroidism in Down syndrome: screening guidelines and testing methodology. American Journal of Medical Genetics Part A. 2004;124A:436-437.  Abstract
  • Heller, JH; Spiridigliozzi, GA; Sullivan, JA; Doraiswamy, PM; Krishnan, RR; Kishnani, PS. Donepezil for the treatment of language deficits in adults with Down syndrome: a preliminary 24-week open trial. American Journal of Medical Genetics Part A. 2003;116A:111-116.  Abstract
  • Koeberl, DD; Millington, DS; Smith, WE; Weavil, SD; Muenzer, J; McCandless, SE; Kishnani, PS; McDonald, MT; Chaing, S; Boney, A; Moore, E; Frazier, DM. Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening. Journal of Inherited Metabolic Disease. 2003;26:25-35.  Abstract
  • Koeberl, DD; Young, SP; Gregersen, NS; Vockley, J; Smith, WE; Benjamin, DK; An, Y; Weavil, SD; Chaing, SH; Bali, D; McDonald, MT; Kishnani, PS; Chen, YT; Millington, DS. Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening. Pediatric Research. 2003;54:219-223.  Abstract
  • Snyder, MJ; Bradford, WD; Kishnani, PS; Hale, LP. Idiopathic hyperammonemia following an unrelated cord blood transplant for mucopolysaccharidosis I. Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. 2003;6:78-83.  Abstract
  • Kishnani, PS; Faulkner, E; VanCamp, S; Jackson, M; Brown, T; Boney, A; Koeberl, D; Chen, YT. Canine model and genomic structural organization of glycogen storage disease type Ia (GSD Ia). Veterinary pathology. 2001;38:83-91.  Abstract
  • Kishnani, PS; Spiridigliozzi, GA; Heller, JH; Sullivan, JA; Doraiswamy, PM; Krishnan, KR. Donepezil for Down's syndrome. American Journal of Psychiatry. 2001;158:143.  Abstract
  • Mackey, J; Treem, WR; Worley, G; Boney, A; Hart, P; Kishnani, PS. Frequency of celiac disease in individuals with Down syndrome in the United States. Clinical Pediatrics. 2001;40:249-252.  Abstract
  • Shaiu, WL; Kishnani, PS; Shen, J; Liu, HM; Chen, YT. Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease. Molecular Genetics and Metabolism. 2000;69:16-23.  Abstract
  • Van Hove, JL; Kishnani, PS; Demaerel, P; Kahler, SG; Miller, C; Jaeken, J; Rutledge, SL. Acute hydrocephalus in nonketotic hyperglycemia. Neurology. 2000;54:754-756.  Abstract
  • Ahmad, A; Amalfitano, A; Chen, YT; Kishnani, PS; Miller, C; Kelley, R. Dubowitz syndrome: a defect in the cholesterol biosynthetic pathway?. American Journal of Medical Genetics Part A. 1999;86:503-504.  Abstract
  • Ahmad, A; Kahler, SG; Kishnani, PS; Artigas-Lopez, M; Pappu, AS; Steiner, R; Millington, DS; Van Hove, JL. Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate. American Journal of Medical Genetics Part A. 1999;87:331-338.  Abstract
  • Kishnani, PS; Boney, A; Chen, YT. Nutritional deficiencies in a patient with glycogen storage disease type Ib. Journal of Inherited Metabolic Disease. 1999;22:795-801.  Abstract
  • Kishnani, PS; Sullivan, JA; Walter, BK; Spiridigliozzi, GA; Doraiswamy, PM; Krishnan, KR. Cholinergic therapy for Down's syndrome. The Lancet. 1999;353:1064-1065.  Abstract
  • Kishnani, PS; Bao, Y; Wu, JY; Brix, AE; Lin, JL; Chen, YT. Isolation and nucleotide sequence of canine glucose-6-phosphatase mRNA: identification of mutation in puppies with glycogen storage disease type Ia. Biochemical and Molecular Medicine. 1997;61:168-177.  Abstract
  • Kishnani, PS; Van Hove, JL; Shoffner, JS; Kaufman, A; Bossen, EH; Kahler, SG. Acute pancreatitis in an infant with lactic acidosis and a mutation at nucleotide 3243 in the mitochondrial DNA tRNALeu(UUR) gene. European Journal of Pediatrics. 1996;155:898-903.  Abstract