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| Home » Diagnostic » Research |
Diagnostics
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Research Interests
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1. Delineation of dysmorphic syndromes and their counseling
2. Linkage analysis for gene mapping in single gene disorders
3. Molecular analysis of single gene disorders
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Projects
Clinical, biochemical and molecular analysis of treatable lysosomal storage disorders
Lysosomal storage disorders are a heterogeneous group of disorders associated with specific lysosomal enzyme deficiency. Enzyme replacement therapy (ERT) is available for at least 5 of these disorders, namely Gaucher disease, Fabry disease, Mucopolysaccharidosis type I and VI, and Pompe disease. Phase II trials are underway for Niemann Pick disease. Our study aims to characterize the clinical features, biochemical parameters and molecular defects in these treatable disorders. The results would form the basis for revealing the spectrum of mutations for these disorders in the Indian population which will in turn help in better diagnosis of carriers for these disorders and accurate prenatal diagnosis. At present the diagnosis and prenatal diagnosis of these disorders is primarily based on enzyme assay, which has a number of disadvantages. There is a large amount of overlap in enzyme levels among carriers and normal people; hence it is very difficult to detect carriers by enzyme assay. Therefore mutation detection is imperative for carrier detection. In addition, the data regarding mutations will be helpful in genotype phenotype studies in these disorders. Further, the knowledge regarding mutations in Indian patients will help in establishing testing for these disorders as a service to the patients.We plan to carry out detailed clinical assessment of patients followed by screening tests and specific enzyme assay for each of the 6 disorders. After confirmation of diagnosis, mutation analysis will be performed by sequencing the respective genes. Genotype phenotype analysis will be carried out to assess the association of certain genotypes with clinical features, enzyme activity, etc.
Establishment of EBV transformed cell lines from families with rare genetic disorders.
A large number of patients present to the genetic clinic with genetic diseases like chromosomal syndromes, metabolic disorders and dysmorphic syndromes. Many of these patients have rare genetic disorders for which the genes are not known. Research in genetic aspects of rare diseases needs collection of multiple families with the disorder. DNA banking is one of the methods to store the patient genetic information but live cells for future research cannot be stored by this method. Live cells are required for experiments relating to gene expression, protein synthesis etc. Hence Epstein Barr Virus(EBV) transformed cell lines from patient lymphocytes is the ideal method for long term storage of genetic material from families with rare genetic disorders. We plan to establish EBV transformed cell lines from informative families with rare genetic disorders. This collection of genetic material will be an important resource for future research projects pertaining to individual diseases. The cell lines will be an endless resource of DNA, RNA and live cells for different experiments.
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Last updated on : Friday, 20th March, 2009.
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