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Priya Sunil Kishnani, MBBS

Chen Family Professor of Pediatrics
Professor of Pediatrics
Chief, Division of Medical Genetics
Member in the Duke Clinical Research Institute
Campus mail: 595 Lasalle Street, GSRB1, 4th Floor, Room 4010, Durham, NC 27710
Phone: (919) 681-9854
Email address:


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.

Education and Training

  • M.B.B.S., University of Bombay, St. Xavier College, 1985

Selected Grants and Awards


Schwartz, IVD, Göker-Alpan, Ö, Kishnani, PS, Zimran, A, Renault, L, Panahloo, Z, and Deegan, P. "Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey." Molecular Genetics and Metabolism Reports 14 (March 2018): 73-79.

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Krosschell, KJ, Kissel, JT, Townsend, EL, Simeone, SD, Zhang, RZ, Reyna, SP, Crawford, TO, Schroth, MK, Acsadi, G, Kishnani, PS, Von Kleist-Retzow, J-C, Hero, B, D'Anjou, G, Smith, EC, Elsheikh, B, Simard, LR, Prior, TW, Scott, CB, Lasalle, B, Sakonju, A, Wirth, B, Swoboda, KJ, and Project Cure SMA Investigator's Network, . "Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I." Muscle & nerve 57, no. 2 (February 2018): 193-199.

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Desai, AK, Walters, CK, Cope, HL, Kazi, ZB, DeArmey, SM, and Kishnani, PS. "Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation." Molecular Genetics and Metabolism 123, no. 2 (February 2018): 92-96.

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McIntosh, PT, Hobson-Webb, LD, Kazi, ZB, Prater, SN, Banugaria, SG, Austin, S, Wang, R, Enterline, DS, Frush, DP, and Kishnani, PS. "Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy." Molecular genetics and metabolism 123, no. 2 (February 2018): 85-91.

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Bond, JE, Kishnani, PS, and Koeberl, DD. "Immunomodulatory, liver depot gene therapy for Pompe disease." Cellular immunology (December 29, 2017).

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Lim, H-H, Yi, H, Kishimoto, TK, Gao, F, Sun, B, and Kishnani, PS. "A pilot study on using rapamycin-carrying synthetic vaccine particles (SVP) in conjunction with enzyme replacement therapy to induce immune tolerance in Pompe disease." Molecular genetics and metabolism reports 13 (December 2017): 18-22.

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Mori, M, Haskell, G, Kazi, Z, Zhu, X, DeArmey, SM, Goldstein, JL, Bali, D, Rehder, C, Cirulli, ET, and Kishnani, PS. "Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease." Molecular Genetics and Metabolism 122, no. 4 (December 2017): 189-197.

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Keeling, LA, Spiridigliozzi, GA, Hart, SJ, Baker, JA, Jones, HN, and Kishnani, PS. "Challenges in measuring the effects of pharmacological interventions on cognitive and adaptive functioning in individuals with Down syndrome: A systematic review." American journal of medical genetics. Part A 173, no. 11 (November 2017): 3058-3066. (Review)

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Rairikar, MV, Case, LE, Bailey, LA, Kazi, ZB, Desai, AK, Berrier, KL, Coats, J, Gandy, R, Quinones, R, and Kishnani, PS. G "late-onset" GAA variant." Molecular genetics and metabolism 122, no. 3 (November 2017): 99-107.

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Hart, SJ, Visootsak, J, Tamburri, P, Phuong, P, Baumer, N, Hernandez, M-C, Skotko, BG, Ochoa-Lubinoff, C, Liogier D'Ardhuy, X, Kishnani, PS, and Spiridigliozzi, GA. "Pharmacological interventions to improve cognition and adaptive functioning in Down syndrome: Strides to date." American journal of medical genetics. Part A 173, no. 11 (November 2017): 3029-3041. (Review)

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