Skip to main content

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


Kishnani, Priya S., Wuh-Liang Hwu, and Wuh-Liang Pompe Disease Newborn Screening Working Group. “Introduction to the Newborn Screening, Diagnosis, and Treatment for Pompe Disease Guidance Supplement.” Pediatrics 140, no. Suppl 1 (July 2017): S1–3.

Full Text

Kronn, David F., Debra Day-Salvatore, Wuh-Liang Hwu, Simon A. Jones, Kimitoshi Nakamura, Torayuki Okuyama, Kathryn J. Swoboda, Priya S. Kishnani, and Priya S. Pompe Disease Newborn Screening Working Group. “Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum.” Pediatrics 140, no. Suppl 1 (July 2017): S24–45.

Full Text

Burton, Barbara K., David F. Kronn, Wuh-Liang Hwu, Priya S. Kishnani, and Priya S. Pompe Disease Newborn Screening Working Group. “The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease.” Pediatrics 140, no. Suppl 1 (July 2017): S14–23.

Full Text

Spiridigliozzi, Gail A., Lori A. Keeling, Mihaela Stefanescu, Cindy Li, Stephanie Austin, and Priya S. Kishnani. “Cognitive and academic outcomes in long-term survivors of infantile-onset Pompe disease: A longitudinal follow-up.” Mol Genet Metab 121, no. 2 (June 2017): 127–37.

Full Text

Lavigne, Jenifer, Christianne Sharr, Ibrahim Elsharkawi, Al Ozonoff, Nicole Baumer, Campbell Brasington, Sheila Cannon, et al. “Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study.” Am J Med Genet A 173, no. 6 (June 2017): 1539–45.

Full Text

Kishnani, Priya, Mark Tarnopolsky, Mark Roberts, Kumarswamy Sivakumar, Majed Dasouki, Mazen M. Dimachkie, Erika Finanger, et al. “Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α.” Mol Ther 25, no. 5 (May 3, 2017): 1199–1208.

Full Text

Yi, Haiqing, Tao Sun, Dustin Armstrong, Scott Borneman, Chunyu Yang, Stephanie Austin, Priya S. Kishnani, and Baodong Sun. “Antibody-mediated enzyme replacement therapy targeting both lysosomal and cytoplasmic glycogen in Pompe disease.” J Mol Med (Berl) 95, no. 5 (May 2017): 513–21.

Full Text

Cox, Timothy M., Guillermo Drelichman, Renata Cravo, Manisha Balwani, Thomas Andrew Burrow, Ana Maria Martins, Elena Lukina, et al. “Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy.” Blood 129, no. 17 (April 27, 2017): 2375–83.

Full Text

Yi, Haiqing, Quan Zhang, Elizabeth D. Brooks, Chunyu Yang, Beth L. Thurberg, Priya S. Kishnani, and Baodong Sun. “Systemic Correction of Murine Glycogen Storage Disease Type IV by an AAV-Mediated Gene Therapy.” Hum Gene Ther 28, no. 3 (March 2017): 286–94.

Full Text

Chan, Justin, Ankit K. Desai, Zoheb B. Kazi, Kaitlyn Corey, Stephanie Austin, Lisa D. Hobson-Webb, Laura E. Case, Harrison N. Jones, and Priya S. Kishnani. “The emerging phenotype of late-onset Pompe disease: A systematic literature review.” Mol Genet Metab 120, no. 3 (March 2017): 163–72.

Full Text