Genetics
The importance of investigating genetic perturbations in diseased individuals is highlighted by the fact that many such alterations, in form of single nucleotide polymorphisms (SNP), would be inherited by the offsprings of the diseased individual. Capturing such information would develop a resource base that could be used to understand the disease or treat the patients of the next generation more effectively. Keeping this larger interest of the society and to better the treatment options, ILBS initiated genetics services in 2011. ILBS is amongst a handful of hospitals in the country that carryout genetic investigations for liver diseases. Genetics is an indispensible field for disease related research. More than 7500 patients have been screened for genetic disorders leading to liver diseases since the department started. With rapid pace of research new genes are being identified that correlate with liver diseases eventually resulting in the increase in the number of patients that are now being screened for liver disorders. The Department screened over 1100 samples in the past year. The department supports clinical and research faculty, fellows, students and staff by providing them scientific and technical inputs to meet their research goals. The Department of Genetics provides single nucleotide polymorphism (SNP) analysis for the following diseases :
- IL28B – Mutation in this gene is associated with poor immune response during HCV infection.
- ITPA – Associated with increased risk of anemia in HCV patients on ribavarin treatment.
- TATA box – Polymorphism in the promoter region of UDP glucuronosyltransferase 1 family, polypeptide A1 (UGT1A1) results in a defective enzyme leading increased unconjugated bilirubin in circulation.
- MTHFR, Factor-II and Factor-V – The SNPs in these gene are associated with thrombosis disorders resulting in hypercoagulability.
- ATP7B – Either of the 200+ mutations in this gene result in accumulation of copper in body parts and is classified as Wilson's disease.
- HFE – The polymorphisms in the gene are responsible for increased accumulation of iron in the liver.
- SPINK1, CFTR – Both these genes are responsible for regulating the trypsin production pathway in pancreas; mutations result in pancreatitis.
- JAK2 – Polymorphism in this gene is associated with Budd-Chiari syndrome often as a complication of polycythemiavera.
- PNPLA3 – SNPs in this gene are associated with non-alcoholic fatty liver disease and steatohepatitis.
- TPMT – The immune suppressant azathioprine metabolism is necessary to curtail its toxic effect. TPMT enzyme is responsible for this and SNP leads to increased drug toxicity.
- PRSS1 – Mutations in this gene result in premature conversion of trypsinogen to trypsin leading to pancreatitis
Services Rendered
| 2023 | |
|---|---|
| TATA box – Polymorphism in the promoter region of UDP glucuronosyltransferase 1 family, polypeptide A1 (UGT1A1) results in a defective enzyme leading increased unconjugated bilirubin in circulation. | 397 |
| MTHFR, Factor-II and Factor-V – The SNPs in these gene areassociated with thrombosis disorders resulting in hypercoagulability. | 206 |
| ATP7B – Either of the 200+ mutations in this gene result in accumulation of copper in body parts and is classified as Wilson's disease. | 12 |
| HFE – The polymorphisms in the gene are responsible for increased accumulation of iron in the liver. | 01 |
| SPINK1, CFTR – Both these genes are responsible for regulating the trypsin production pathway in pancreas; mutations result in pancreatitis. | 12 |
| JAK2 – Polymorphism in this gene is associated with Budd-Chiari syndrome often as a complication of polycythemia vera. | 127 |
| PNPLA3 – SNPs in this gene are associated with non-alcoholic fatty liver disease and steatohepatitis. | 690 |
| TPMT – The immune suppressant azathioprine metabolism is necessary to curtail its toxic effect. TPMT enzyme is responsible for this and SNP leads to increased drug toxicity. | 60 |
| PRSS1 – Mutations in this gene result in premature conversion of trypsinogen to trypsin leading to pancreatitis | 04 |
| CYP3A5, ABCB1, MDR1 – Mutations in thw genes are associated with tacrolimus resistance and correct assessment helps define the dose of the drug | 94 |
Research focuses on elucidation of molecular pathways at cellular and systems level during disease progression using integrated analysis of genomic (total RNA, miRNA), proteomic, metabolomic and metagenomic data. An intense area of research in this regard is the gut microbial alterations during disease onset. Using the Next Generation Sequencing tools the group has analyzed the gut metagenome in patients of alcoholic liver disease. In the same set of patients, the PBMC transcriptome and plasma metabolome has also been analyzed. New tools are being developed for identifying transcriptome modules in blood and liver, that provide insight at a system level functioning of genes/cells during disease progression. The strongholds of the lab are employing mathematical modelling for analysis of the omics data and also that it is the only unit at ILBS to perform bioinformatic analysis using R and Python, besides other tools. Another area of investigation is genetic analysis of inheritance patterns of the potential candidate genes which when mutated results in genetic disorders which finally affect the liver functioning. The group has screened affected families to identify potentially susceptible individuals by mutation analysis screening.
Total Number of publications of that faculty member : 39
