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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


Brooks, Elizabeth D., Dustin J. Landau, Jeffrey I. Everitt, Talmage T. Brown, Kylie M. Grady, Lauren Waskowicz, Cameron R. Bass, et al. “Long-term complications of glycogen storage disease type Ia in the canine model treated with gene replacement therapy.” In J Inherit Metab Dis, 41:965–76, 2018.

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Herbert, Mrudu, Surekha Pendyal, Mugdha Rairikar, Carine Halaby, Robert W. Benjamin, and Priya S. Kishnani. “Role of continuous glucose monitoring in the management of glycogen storage disorders.” J Inherit Metab Dis 41, no. 6 (November 2018): 917–27.

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Haskell, Gloria T., Mari Mori, Cynthia Powell, Timothy J. Amrhein, Gillian I. Rice, Lauren Bailey, Natasha Strande, et al. “Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case.” Cold Spring Harb Mol Case Stud 4, no. 5 (October 2018).

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Hahn, Si Houn, David Kronn, Nancy D. Leslie, Loren D. M. Pena, Pranoot Tanpaiboon, Michael J. Gambello, James B. Gibson, et al. “Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study.” Genet Med 20, no. 10 (October 2018): 1284–94.

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Koeberl, Dwight D., Laura E. Case, Edward C. Smith, Crista Walters, Sang-Oh Han, Yanzhen Li, Wei Chen, et al. “Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase I/II Clinical Trial of Clenbuterol in Pompe Disease.” Mol Ther 26, no. 9 (September 5, 2018): 2304–14.

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Mistry, Pramod K., Manisha Balwani, Hagit N. Baris, Hadhami Ben Turkia, T Andrew Burrow, Joel Charrow, Gerald F. Cox, et al. “Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1.” Blood Cells Mol Dis 71 (July 2018): 71–74.

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Herbert, Mrudu, Heidi Cope, Jennifer S. Li, and Priya S. Kishnani. “G Variant: Implications for Newborn Screening.” J Pediatr 198 (July 2018): 308–12.

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Mozaffar, Tahseen, Drago Bratkovic, Barry Byrne, Paula Clemens, Tarekegn Geberhiwot, Ozlem Goker-Alpan, Priya Kishnani, et al. “First-in-human Study of ATB200/AT2221 in Patients with Pompe Disease: Preliminary Results From the ATB200-02 Trial.” In Neurology, Vol. 90. LIPPINCOTT WILLIAMS & WILKINS, 2018.


Updia, Jariya, Lauren B. Flueckinger, Kadiyala V. Ravindra, Carla W. Brady, Stephanie Austin, Surekha Pendyal, and Priya Kishnani. “A FIRST REPORT OF CHOLANGIOCARCINOMA IN GSD I.” In Molecular Genetics and Metabolism, 123:271–271. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2018.


Schwartz, Ida Vanessa D., Özlem Göker-Alpan, Priya S. Kishnani, Ari Zimran, Lydie Renault, Zoya Panahloo, Patrick Deegan, and Patrick GOS Study group. “Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey.” Mol Genet Metab Rep 14 (March 2018): 73–79.

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