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Priya Sunil Kishnani, MBBS

Chen Family Distinguished Professor of Pediatrics
Professor of Pediatrics
Chief, Division of Medical Genetics
Professor in the Department of Molecular Genetics and Microbiology
Core Faculty in Innovation & Entrepreneurship
Member in the Duke Clinical Research Institute
Campus mail: 905 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


Khan, Aleena A., Tracy Boggs, Michael Bowling, Stephanie Austin, Mihaela Stefanescu, Laura Case, and Priya S. Kishnani. “Whole-body magnetic resonance imaging in late-onset Pompe disease: Clinical utility and correlation with functional measures.” J Inherit Metab Dis 43, no. 3 (May 2020): 549–57.

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Santoro, Stephanie L., Sheila Cannon, George Capone, Cathy Franklin, Sarah J. Hart, Victoria Hobensack, Priya S. Kishnani, et al. “Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database.” Genet Med 22, no. 4 (April 2020): 767–76.

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ElMallah, Mai K., Ankit K. Desai, Erica B. Nading, Stephanie DeArmey, Richard M. Kravitz, and Priya S. Kishnani. “Pulmonary outcome measures in long-term survivors of infantile Pompe disease on enzyme replacement therapy: A case series.” Pediatr Pulmonol 55, no. 3 (March 2020): 674–81.

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Hart, Sarah J., Kanecia Zimmerman, Corinne M. Linardic, Sheila Cannon, Anna Pastore, Vasiliki Patsiogiannis, Paolo Rossi, et al. “Response to Zhang et al.” Genet Med 22, no. 3 (March 2020): 662.

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Rossi, Alessandro, Irene J. Hoogeveen, Vanessa B. Bastek, Foekje de Boer, Chiara Montanari, Uta Meyer, Arianna Maiorana, et al. “Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations.” J Inherit Metab Dis, February 16, 2020.

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Han, Sang-Oh, Alexina C. Haynes, Songtao Li, Dennis M. Abraham, Priya S. Kishnani, Richard Steet, and Dwight D. Koeberl. “Evaluation of antihypertensive drugs in combination with enzyme replacement therapy in mice with Pompe disease.” Mol Genet Metab 129, no. 2 (February 2020): 73–79.

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Koeberl, Dwight D., Laura E. Case, Ankit Desai, Edward C. Smith, Crista Walters, Sang-Oh Han, Beth L. Thurberg, Sarah P. Young, Deeksha Bali, and Priya S. Kishnani. “Improved muscle function in a phase I/II clinical trial of albuterol in Pompe disease.” Mol Genet Metab 129, no. 2 (February 2020): 67–72.

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Gupta, Neerja, Zoheb B. Kazi, Sheela Nampoothiri, Sujatha Jagdeesh, Madhulika Kabra, Ratna Dua Puri, Mamta Muranjan, et al. “Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease.” J Pediatr 216 (January 2020): 44-50.e5.

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Crisp, Kelly D., Laura E. Case, Richard M. Kravitz, Priya S. Kishnani, and Harrison N. Jones. “Training, detraining, and retraining: Two 12-week respiratory muscle training regimens in a child with infantile-onset Pompe disease.” J Pediatr Rehabil Med 13, no. 1 (2020): 71–80.

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Kishnani, Priya S., James B. Gibson, Michael J. Gambello, Richard Hillman, David W. Stockton, David Kronn, Nancy D. Leslie, et al. “Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.” Genet Med 21, no. 11 (November 2019): 2543–51.

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