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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


Kazi, ZB, Desai, AK, Troxler, RB, Kronn, D, Packman, S, Sabbadini, M, Rizzo, WB, Scherer, K, Abdul-Rahman, O, Tanpaiboon, P, Nampoothiri, S, Gupta, N, Feigenbaum, A, Niyazov, DM, Sherry, L, Segel, R, McVie-Wylie, A, Sung, C, Joseph, AM, Richards, S, and Kishnani, PS. "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." Genetics in Medicine : Official Journal of the American College of Medical Genetics 21, no. 4 (April 2019): 887-895.

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Kishnani, PS, Goldstein, J, Austin, SL, Arn, P, Bachrach, B, Bali, DS, Chung, WK, El-Gharbawy, A, Brown, LM, Kahler, S, Pendyal, S, Ross, KM, Tsilianidis, L, Weinstein, DA, Watson, MS, and ACMG Work Group on Diagnosis and Management of Glycogen Storage Diseases Type VI and IX, . "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)." Genetics in Medicine : Official Journal of the American College of Medical Genetics 21, no. 4 (April 2019): 772-789.

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Kishnani, PS, Rockman-Greenberg, C, Rauch, F, Bhatti, MT, Moseley, S, Denker, AE, Watsky, E, and Whyte, MP. "Five-year efficacy and safety of asfotase alfa therapy for adults and adolescents with hypophosphatasia." Bone 121 (April 2019): 149-162.

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De Groot, AS, Kazi, ZB, Martin, RF, Terry, FE, Desai, AK, Martin, WD, and Kishnani, PS. "HLA- and genotype-based risk assessment model to identify infantile onset pompe disease patients at high-risk of developing significant anti-drug antibodies (ADA)." Clinical Immunology (Orlando, Fla.) 200 (March 2019): 66-70.

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Lim, J-A, Yi, H, Gao, F, Raben, N, Kishnani, PS, and Sun, B. "Intravenous Injection of an AAV-PHP.B Vector Encoding Human Acid α-Glucosidase Rescues Both Muscle and CNS Defects in Murine Pompe Disease." Molecular Therapy. Methods & Clinical Development 12 (March 2019): 233-245.

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Jauhari, P, Saini, AG, Suthar, R, Sankhyan, N, Rehder, C, Kishnani, P, Gupta, N, Kabra, M, and Singhi, P. "Thenar Hypertrophy and Electrical Myotonia in Pompe Disease." Journal of Clinical Neuromuscular Disease 20, no. 3 (March 2019): 135-137.

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Potnis, KC, Flueckinger, LB, Ha, CI, Upadia, J, Frush, DP, and Kishnani, PS. "Bone manifestations in neuronopathic Gaucher disease while receiving high-dose enzyme replacement therapy." Molecular Genetics and Metabolism 126, no. 2 (February 2019): 157-161.

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Herbert, M, Case, LE, Rairikar, M, Cope, H, Bailey, L, Austin, SL, and Kishnani, PS.  G variant." Molecular Genetics and Metabolism 126, no. 2 (February 2019): 106-116.

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Spiridigliozzi, GA, Goeldner, C, Edgin, J, Hart, SJ, Noeldeke, J, Squassante, L, Visootsak, J, Heller, JH, Khwaja, O, Kishnani, PS, and Liogier d'Ardhuy, X. "Adaptive behavior in adolescents and adults with Down syndrome: Results from a 6-month longitudinal study." American Journal of Medical Genetics. Part A 179, no. 1 (January 2019): 85-93.

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Dale, DC, Bolyard, AA, Marrero, T, Kelley, ML, Makaryan, V, Tran, E, Leung, J, Boxer, LA, Kishnani, PS, Austin, S, Wanner, C, Ferrecchia, IA, Khalaf, D, Maze, D, Kurtzberg, J, Zeidler, C, Welte, K, and Weinstein, DA. "Neutropenia in glycogen storage disease Ib: outcomes for patients treated with granulocyte colony-stimulating factor." Current Opinion in Hematology 26, no. 1 (January 2019): 16-21.

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