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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


Bailey, Lauren A., Mugdha Rairikar, Ankit Desai, Zoheb Kazi, Laura Case, and Priya Kishnani. “A newborn screening dilemma: when to treat Pompe disease with c.-32-13T&gt/;G IVS splice site mutation.” In Molecular Genetics and Metabolism, 120:S24–S24. Elsevier BV, 2017.

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Austin, Stephanie L., Andrew Chiou, Baodong Sun, Laura E. Case, Kenny Govendrageloo, Perrin Hansen, and Priya S. Kishnani. “Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation.” Mol Genet Metab 120, no. 1–2 (January 2017): 96–100.

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Han, Sang-oh, Alexina C. Haynes, Songtao Li, Priya S. Kishnani, Richard Steet, and Dwight D. Koeberl. “Beneficial effects of carvedilol with enzyme replacement therapy in Pompe disease.” In Molecular Genetics and Metabolism, 120:S62–S62. Elsevier BV, 2017.

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Kishnani, Priya, Marisa Gayron, Andrew E. Denker, Eric Watsky, and Cheryl R. Rockman-Greenberg. “Biochemical and physical function outcomes in adults with pediatric-onset hypophosphatasia treated with asfotase alfa for up to 3 years: interim results from a Phase 2 study.” In Clinical Endocrinology, 86:66–66. WILEY-BLACKWELL, 2017.


Schwartz, Ida Vanessa D., Ozlem Goker-Alpan, Priya Kishnani, Ari Zimran, Lydie Renault, Zoya Panahloo, and Patrick Deegan. “Characteristics of 27 patients with type 3 Gaucher disease: a descriptive analysis from the Gaucher Outcome Survey.” In Molecular Genetics and Metabolism, 120:S120–21. Elsevier BV, 2017.

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Bali, Deeksha S., Jennifer L. Goldstein, Keri Fredrickson, Stephanie Austin, Surekha Pendyal, Catherine Rehder, and Priya S. Kishnani. “Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency.” Jimd Rep 37 (2017): 63–72.

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Gupta, Punita, Brian Shayota, Alejandra Gomez, Lorien Tambini-King, Zoheb Kazi, and Priya S. Kishnani. “Early initiation of prophylactic immune tolerance induction and enzyme replacement therapy in prenatally diagnosed infantile onset Pompe disease with a CRIM-negative mutation.” In Molecular Genetics and Metabolism, 120:S60–S60. Elsevier BV, 2017.

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Lim, Han-Hyuk, Haiqing Yi, Takashi K. Kishimoto, Fengqin Gao, Baodong Sun, and Priya S. Kishnani. “Immunomodulation to enzyme replacement therapy with tolerogenic nanoparticles containing rapamycin in a murine model of Pompe disease.” In Molecular Genetics and Metabolism, 120:S83–84. Elsevier BV, 2017.

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Stockton, David W., Kenneth I. Berger, Matthias Boentert, Barry Byrne, Priya S. Kishnani, Juan C. Llerena, Mark Roberts, Sonia Maruti, and Roberto Araujo. “Impact of earlier treatment on respiratory function in patients with late-onset Pompe disease: data from the Pompe Registry.” In Molecular Genetics and Metabolism, 120:S128–S128. Elsevier BV, 2017.

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Ganesh, Jaya, Maria I. Scarano, Michael Hardiman, and Priya Kishnani. “Late-onset Pompe disease with atypical presentation: What else is going on?” In Molecular Genetics and Metabolism, 120:S49–50. Elsevier BV, 2017.

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