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Deeksha Sarihyan Bali, PhD

Professor of Pediatrics
Campus mail: 4th Floor, Gsrbi, 905 Lasalle Street, Division of Medical Genetics, Durham, NC 27710
Phone: (919) 549-0445
Email address: bali0001@duke.edu

1)Development of new non-invasive laboratory diagnostic methods using enzymology and molecular diagnostic techniques for Glycogen Storage Diseases (GSDs) and Lysoosmal Storage Diseases (LSDs) like Pompe, Fabry, Gaucher, MPS - for early diagnosis and treatment modalities. Exploration of new high throughput diagnostic platforms with an idea of implementation into New born screening (NBS)of these diseases.

2)Clinical research studies associated with Pompe disease with a goal to improve the diagnosis, current therapies and patient care, with special emphasis on clinical development of Cross Reactive Immunologic Material (CRIM) diagnostic methods and association with underlying pathogenic GAA mutations and clinical correlations.

3) Clinical research studies involving other common LSDs (Fabry, MPSI,II,IVa and VI, Gaucher, Wolman disease and more) focusing on early diagnsosis and new born screening.

4)Understanding the hepatocellular adenoma (HCA) and hepatocellular carcinomas (HCC) transformation in GSD I, using paired samples from resected adenomas and adjoining liver tissue. Experiments use SNP and expression microarray analysis, miRNA and CNV analysis in collaboration with other investigators.

5)Pursuing genotype-phenotype correlations for various clinical phenotypes of GSD IX, in order to better understand clinical heterogeneity. Severe phenotypes of GSD IX resulting in liver cirrhosis and Cardiac involvement are of special inetrest to us, especially their association with the underlying pathogenic mutations.

6)Research on Pompe/Mannose-6-phosphate receptor (M6PR300) double knock out mice to understand the role of M6PR in rhGAA uptake and glycogen clearance and also beta-agonist like Clenbuterol.

Education and Training

  • Ph.D., Guru Nanak University (India), 1987

Publications

Desai, Ankit K., Zoheb B. Kazi, Deeksha S. Bali, and Priya S. Kishnani. “Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy..” Mol Genet Metab Rep 20 (September 2019). https://doi.org/10.1016/j.ymgmr.2019.100475.

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Taylor, Jennifer L., Kristin Clinard, Cynthia M. Powell, Catherine Rehder, Sarah P. Young, Deeksha Bali, Sara E. Beckloff, et al. “The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening..” J Pediatr 211 (August 2019): 193-200.e2. https://doi.org/10.1016/j.jpeds.2019.04.027.

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Halaby, Carine A., Sarah P. Young, Stephanie Austin, Ela Stefanescu, Deeksha Bali, Lani K. Clinton, Brian Smith, et al. “Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring..” Genet Med, July 2, 2019. https://doi.org/10.1038/s41436-019-0561-7.

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Wang, Gensheng, Sarah P. Young, Deeksha Bali, Julie Hutt, Songtao Li, Janet Benson, and Dwight D. Koeberl. “Erratum: Assessment of toxicity and biodistribution of recombinant AAV8 vector-mediated immunomodulatory gene therapy in mice with Pompe disease..” Mol Ther Methods Clin Dev 13 (June 14, 2019). https://doi.org/10.1016/j.omtm.2019.05.001.

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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. https://doi.org/10.1038/s41436-018-0364-2.

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Desai, Ankit K., Zoheb B. Kazi, Deeksha S. Bali, Catherine W. Rehder, Susan Richards, Amy S. Rosenberg, and Priya S. Kishnani. “Changing the clinical course of infantile Pompe disease with immune modulation strategies: 12 years of experience.” In Molecular Genetics and Metabolism, 126:S48–S48. Elsevier BV, 2019. https://doi.org/10.1016/j.ymgme.2018.12.106.

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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. https://doi.org/10.1016/j.ymthe.2018.06.023.

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Millington, D. S., and D. S. Bali. “Current state of the art of newborn screening for lysosomal storage disorders.” International Journal of Neonatal Screening 4, no. 3 (September 1, 2018). https://doi.org/10.3390/ijns4030024.

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Mori, Mari, Gloria Haskell, Zoheb Kazi, Xiaolin Zhu, Stephanie M. DeArmey, Jennifer L. Goldstein, Deeksha Bali, Catherine Rehder, Elizabeth T. Cirulli, and Priya S. Kishnani. “Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease..” Mol Genet Metab 122, no. 4 (December 2017): 189–97. https://doi.org/10.1016/j.ymgme.2017.10.008.

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Puzzo, Francesco, Pasqualina Colella, Maria G. Biferi, Deeksha Bali, Nicole K. Paulk, Patrice Vidal, Fanny Collaud, et al. “Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase..” Sci Transl Med 9, no. 418 (November 29, 2017). https://doi.org/10.1126/scitranslmed.aam6375.

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