Deeksha Sarihyan Bali, PhD
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
Selected Grants and Awards
- Factors in Immune Response Affecting Long-term Treatment Outcomes in Pompe disease (CRIM)
- A Phase I Study of the Safety of AAV2/8 LSPhGAA in Late-onset Pompe Disease
- Development and validation of skin fibroblast Cross Reactive Immunological (CRIM) assay for MPSIIIa.
- Potency Assays
- Collaborative Innovation Award, CTSA Program
- Factors in Immune Response Affecting Long-term Treatment Outcomes in Pompe disease
- Activity and Biodistribution of the AAV2/8-LSPhGAA in GAA-knockout mice
- Blood spot GAA Enzyme Testing and GAA Gene Sequencing for Patients Suspected to have Pompe Disease
- A study to identify the frequency of lysosomal acid lipase deficiency in at-risk patient populations
- Supplemental Funding for Phase 1/2 study of Clenbuterol for the Treatment of Pompe Disease
- Phase 1/2 Study of Clenbuterol for the Treatment of Pompe Disease
- Acid alpha-glucosidase (GAA) enzyme activity and GAA gene sequencing for Pompe disease
- Lab on a Chip for Multiplexed Newborn Screening of Lysosomal Storage Disease
- Analysis of GAA activity and GAA mutation analysis
- Measurement of LAL enzyme and LIPA gene sequencing for Wolman
- Clinical Trial Planning in Pompe Disease
- Gene delivery to striated muscle by systemic AAV vectors