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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: 905 Lasalle Street, GSRB1, 4th Floor, Room 4010, Durham, NC 27710
Phone: (919) 681-9854
Email address: kishn001@mc.duke.edu

RESEARCH INTERESTS

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

Publications

Ha, Christine I., Ankit K. Desai, Justin Waterfield, Zoheb B. Kazi, Stephanie L. Austin, Edward H. Bossen, Priya S. Kishnani, and Anne F. Buckley. “Outside the fiber: interstitial pathology of skeletal muscle in infantile Pompe disease.” In Molecular Genetics and Metabolism, 120:S60–61. Elsevier BV, 2017. https://doi.org/10.1016/j.ymgme.2016.11.136.

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Austin, Stephanie L., Rachel D. Torok, Chanika Phornphutkul, Kathleen Rotondo, Anne F. Buckley, Gregory H. Tatum, Stephanie B. Wechsler, and Priya S. Kishnani. “PRKAG2 as a mimicker of Pompe disease.” In Molecular Genetics and Metabolism, 120:S23–S23. Elsevier BV, 2017. https://doi.org/10.1016/j.ymgme.2016.11.029.

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Kishnani, Priya S., Mary Alice Abbott, Yin-Hsiu Chien, Paula R. Clemens, Virginia E. Kimonis, Nancy Leslie, Juan C. Llerena, et al. “Sequence variants and genotypes among 898 patients with Pompe disease: data from the Pompe Registry.” In Molecular Genetics and Metabolism, 120:S75–S75. Elsevier BV, 2017. https://doi.org/10.1016/j.ymgme.2016.11.179.

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Mori, Mari, Lauren A. Bailey, Januario Estrada, Catherine W. Rehder, Jennifer S. Li, Joseph G. Rogers, Deeksha S. Bali, Anne F. Buckley, and Priya S. Kishnani. “Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report..” Jimd Rep 31 (2017): 79–83. https://doi.org/10.1007/8904_2016_563.

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Weinreb, Neal J., Julie Batista, Hans C. Andersson, Manisha Balwani, T. Andrew Burrow, Joel Charrow, Paige Kaplan, et al. “Transformation in pre-treatment presentations of Gaucher disease during the first two decades of imiglucerase enzyme replacement therapy: a report from the International Collaborative Gaucher Group Gaucher Registry.” In Molecular Genetics and Metabolism, 120:S139–S139. Elsevier BV, 2017. https://doi.org/10.1016/j.ymgme.2016.11.368.

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Mistry, Pramod, Neal J. Weinreb, Julie Batista, Hans C. Andersson, Manisha Balwani, Thomas Andrew Burrow, Joel Charrow, et al. “Transformation in Pre-Treatment Presentations of Gaucher Disease during the First Two Decades of Imiglucerase Enzyme Replacement Therapy: A Report from the International Collaborative Gaucher Group Gaucher Registry.” In Blood, Vol. 128. AMER SOC HEMATOLOGY, 2016.

Scholars@Duke

Yi, Haiqing, Fengqin Gao, Stephanie Austin, Priya S. Kishnani, and Baodong Sun. “Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV..” Mol Genet Metab Rep 9 (December 2016): 31–33. https://doi.org/10.1016/j.ymgmr.2016.09.008.

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Mori, Mari, Stephanie L. DeArmey, Thomas J. Weber, and Priya S. Kishnani. “Case series: Odontohypophosphatasia or missed diagnosis of childhood/adult-onset hypophosphatasia? - Call for a long-term follow-up of premature loss of primary teeth..” Bone Rep 5 (December 2016): 228–32. https://doi.org/10.1016/j.bonr.2016.08.004.

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Sharr, Christianne, Jenifer Lavigne, Ibrahim M. A. Elsharkawi, Al Ozonoff, Nicole Baumer, Campbell Brasington, Sheila Cannon, et al. “Detecting celiac disease in patients with Down syndrome..” Am J Med Genet A 170, no. 12 (December 2016): 3098–3105. https://doi.org/10.1002/ajmg.a.37879.

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Weber, Thomas J., Eileen K. Sawyer, Scott Moseley, Tatjana Odrljin, and Priya S. Kishnani. “Burden of disease in adult patients with hypophosphatasia: Results from two patient-reported surveys..” Metabolism 65, no. 10 (October 2016): 1522–30. https://doi.org/10.1016/j.metabol.2016.07.006.

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