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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


Hart, Sarah J., Jeannie Visootsak, Paul Tamburri, Patrick Phuong, Nicole Baumer, Maria-Clemencia Hernandez, Brian G. Skotko, et al. “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): 3029–41.

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Torok, Rachel D., Stephanie L. Austin, Chanika Phornphutkul, Kathleen M. Rotondo, Deeksha Bali, Gregory H. Tatum, Stephanie B. Wechsler, Anne F. Buckley, and Priya S. Kishnani. “PRKAG2 mutations presenting in infancy.” Journal of Inherited Metabolic Disease 40, no. 6 (November 2017): 823–30.

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Herbert, Mrudu, Zoheb B. Kazi, Susan Richards, Amy S. Rosenberg, and Priya S. Kishnani. “Response to de Vries et al.” Genetics in Medicine : Official Journal of the American College of Medical Genetics 19, no. 11 (November 2017): 1281–82.

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McIntosh, Paul, Stephanie Austin, Jennifer Sullivan, Lauren Bailey, Carrie Bailey, David Viskochil, and Priya S. Kishnani. “Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?” Am J Med Genet A 173, no. 10 (October 2017): 2628–34.

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Rairikar, Mugdha, Zoheb B. Kazi, Ankit Desai, Crista Walters, Amy Rosenberg, and Priya S. Kishnani. “High dose IVIG successfully reduces high rhGAA IgG antibody titers in a CRIM-negative infantile Pompe disease patient.” Mol Genet Metab 122, no. 1–2 (September 2017): 76–79.

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Kishnani, Priya S., Eric T. Rush, Paul Arundel, Nick Bishop, Kathryn Dahir, William Fraser, Paul Harmatz, et al. “Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa.” Mol Genet Metab 122, no. 1–2 (September 2017): 4–17.

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Mistry, Pramod K., Julie L. Batista, Hans C. Andersson, Manisha Balwani, Thomas Andrew Burrow, Joel Charrow, Paige Kaplan, et al. “Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.” Am J Hematol 92, no. 9 (September 2017): 929–39.

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Ha, Christine I., Stephanie DeArmey, Heidi Cope, Mugdha Rairikar, and Priya S. Kishnani. “Treatment of profound thrombocytopenia in a patient with Gaucher disease type 1: Is there a role for substrate reduction therapy.” Mol Genet Metab Rep 12 (September 2017): 82–84.

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Kazi, Zoheb B., Ankit K. Desai, Kathryn L. Berrier, R Bradley Troxler, Raymond Y. Wang, Omar A. Abdul-Rahman, Pranoot Tanpaiboon, et al. “Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease.” Jci Insight 2, no. 16 (August 17, 2017).

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Rofail, Diana, Daniel Froggatt, Rafael de la Torre, Jamie Edgin, Priya Kishnani, Renaud Touraine, Sarah Whitwham, Lisa Squassante, Omar Khwaja, and Xavier Liogier D’Ardhuy. “Health-Related Quality of Life in Individuals with Down Syndrome: Results from a Non-Interventional Longitudinal Multi-National Study.” Adv Ther 34, no. 8 (August 2017): 2058–69.

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