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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


Updia, Jariya, Surekha Pendyal, Lauren Bailey, Dwight D. Koeberl, and Priya Kishnani. “CLINICAL COURSE AND OUTCOME IN ADULTS WITH PROPIONIC ACIDEMIA: CASE SERIES.” In Molecular Genetics and Metabolism, 123:271–72. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2018.


Kazi, Zoheb, Ankit Desai, Rebecca Martin, Frances Terry, William Martin, Anne De Groot, and Priya Kishnani. “A prediction model to identify infantile Pompe disease (IPD) patients at high-risk of developing significant anti-drug antibodies (ADA) utilizing acid α-glucosidase (GAA ) variants and HLA-type.” In Molecular Genetics and Metabolism, 123:S76–S76. Elsevier BV, 2018.

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Desai, Ankit K., Zoheb B. Kazi, Angelika Erwin, Bradley Troxler, David Kronn, Seymour Packman, Marta Sabbadini, et al. “An immune tolerance approach using methotrexate in the naïve setting of patients treated with a therapeutic protein: Experience in infantile Pompe disease.” In Molecular Genetics and Metabolism, 123:S38–S38. Elsevier BV, 2018.

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Krosschell, Kristin J., John T. Kissel, Elise L. Townsend, Sarah D. Simeone, Ren Zhe Zhang, Sandra P. Reyna, Thomas O. Crawford, et al. “Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I.” Muscle Nerve 57, no. 2 (February 2018): 193–99.

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Herbert, Mrudu, Gail A. Spiridigliozzi, Steven Chen, Mihaela Stefanescu, Stephanie L. Austin, James M. Provenzale, and Priya S. Kishnani. “Cognition and brain involvement in infantile Pompe disease.” In Molecular Genetics and Metabolism, 123:S62–S62. Elsevier BV, 2018.

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Koeberl, Dwight, Laura Case, Edward C. Smith, Yanzhen Li, Crista Walters, Christoph Hornik, Beth Thurberg, Deeksha Bali, Nenad Bursac, and Priya S. Kishnani. “Correction of biochemical abnormalities and gene expression associated with improved muscle function in a phase I/II clinical trial of clenbuterol in Pompe disease patients stably treated with ERT.” In Molecular Genetics and Metabolism, 123:S79–80. Elsevier BV, 2018.

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Puri, Ratna Dua, Seema Kapoor, Priya S. Kishnani, Ashwin Dalal, Neerja Gupta, Mamta Muranjan, Shubha R. Phadke, et al. “Diagnosis and Management of Gaucher Disease in India - Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics.” Indian Pediatrics 55, no. 2 (February 2018): 143–53.


Desai, Ankit K., Crista K. Walters, Heidi L. Cope, Zoheb B. Kazi, Stephanie M. DeArmey, and Priya S. Kishnani. “Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation.” Mol Genet Metab 123, no. 2 (February 2018): 92–96.

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Johnson, Franklin K., Drago Bratkovic, Barry Byrne, Paula R. Clemens, Ozlem Goker-Alpan, Tarakegn Geberhiwot, Priya Kishnani, et al. “First-in-human preliminary pharmacokinetic data on a novel recombinant acid α-glucosidase, ATB200, co-administered with the pharmacological chaperone, AT2221, in patients with late-onset Pompe disease.” In Molecular Genetics and Metabolism, 123:S71–72. Elsevier BV, 2018.

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Austin, Stephanie, Mugdha Rairikar, Laura Case, Lauren Bailey, Zoheb Kazi, Ankit Desai, Kathryn Berrier, et al. “ G “late-onset” GAA variant.” In Molecular Genetics and Metabolism, 123:S21–S21. Elsevier BV, 2018.

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