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Priya Sunil Kishnani, MBBS

Chen Family 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: 595 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


Mistry, Pramod K., Manisha Balwani, Hagit N. Baris, Hadhami Ben Turkia, T Andrew Burrow, Joel Charrow, Gerald F. Cox, et al. “Addendum to Letter to the Editor: Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1..” Blood Cells Mol Dis 77 (July 2019): 101–2.

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Cardinale, Kathleen M., Alexandra Bocharnikov, Sarah J. Hart, Jane Ann Baker, Christopher Eckstein, Joan M. Jasien, William Gallentine, Gordon Worley, Priya S. Kishnani, and Heather Van Mater. “Immunotherapy in selected patients with Down syndrome disintegrative disorder..” Dev Med Child Neurol 61, no. 7 (July 2019): 847–51.

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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, May 14, 2019.

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Kazi, Zoheb B., Ankit K. Desai, R Bradley Troxler, David Kronn, Seymour Packman, Marta Sabbadini, William B. Rizzo, et al. “An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease..” Genet Med 21, no. 4 (April 2019): 887–95.

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Kishnani, Priya S., Jennifer Goldstein, Stephanie L. Austin, Pamela Arn, Bert Bachrach, Deeksha S. Bali, Wendy K. Chung, et al. “Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)..” Genet Med 21, no. 4 (April 2019): 772–89.

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Kishnani, Priya S., Cheryl Rockman-Greenberg, Frank Rauch, M Tariq Bhatti, Scott Moseley, Andrew E. Denker, Eric Watsky, and Michael P. Whyte. “Five-year efficacy and safety of asfotase alfa therapy for adults and adolescents with hypophosphatasia..” Bone 121 (April 2019): 149–62.

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Lim, Jeong-A, Haiqing Yi, Fengqin Gao, Nina Raben, Priya S. Kishnani, and Baodong Sun. “Intravenous Injection of an AAV-PHP.B Vector Encoding Human Acid α-Glucosidase Rescues Both Muscle and CNS Defects in Murine Pompe Disease..” Mol Ther Methods Clin Dev 12 (March 15, 2019): 233–45.

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De Groot, A. S., Z. B. Kazi, R. F. Martin, F. E. Terry, A. K. Desai, W. D. Martin, and P. S. Kishnani. “HLA- and genotype-based risk assessment model to identify infantile onset pompe disease patients at high-risk of developing significant anti-drug antibodies (ADA)..” Clin Immunol 200 (March 2019): 66–70.

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Jauhari, Prashant, Arushi Gahlot Saini, Renu Suthar, Naveen Sankhyan, Catherine Rehder, Priya Kishnani, Neerja Gupta, Madhulika Kabra, and Pratibha Singhi. “Thenar Hypertrophy and Electrical Myotonia in Pompe Disease..” J Clin Neuromuscul Dis 20, no. 3 (March 2019): 135–37.

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Potnis, Kunal C., Lauren B. Flueckinger, Christine I. Ha, Jariya Upadia, Donald P. Frush, and Priya S. Kishnani. “Bone manifestations in neuronopathic Gaucher disease while receiving high-dose enzyme replacement therapy..” Mol Genet Metab 126, no. 2 (February 2019): 157–61.

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