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.