BioMedical Genomics Unit (BMGU)
BioMedical Genomics Unit (BMGU) has been established by National Institute of Biomedical Genomics on the premises of the SSKM Hospital, the largest tertiary care hospital in Kolkata. The purpose in establishing BMGU is to accelerate basic & translational research by empowering clinicians to carry out independent research and training and also provide genetics services. Establishment of BMGU was guided by the commitment of NIBMG to ensure a proximate and fruitful research engagement between clinicians and basic scientists.
Research in BMGU encompasses a wide variety of genotype-phenotype correlations, gene-environment interactions and effective utilization of genomic data in clinical care. BMGU intends to enable clinician researchers generate basic genomic evidence for identified and defined disease/health phenotypes to facilitate genome-based solutions. The Unit also aims to promote genomic research capacity building by training medical students, researchers and professionals through workshops, continuing education and other training programs.
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From left to right: Prof. V. Mohan, Prof. P. K. Mitra, Prof. Abhijit Chowdhury, Prof. Partha P. Majumder, Prof. Mitali Chatterjee and Prof. S. K. Acharya |
Adjunct Professors
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Professor Abhijit Chowdhury, MD, DM, FNASc Dept. of Hepatology, IPGME&R, Kolkata Research Interests :
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Professor Mitali Chatterjee, MD, PhD, FNASc Dept. of Pharmacology, IPGME&R, Kolkata Research Interests :
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Wet-lab and Computational Facilities at BioMedical Genomics Unit (BMGU)
| Serial No. | Instrument Name | Application |
| 1. | ABI3500 Genetic Analyzer (Applied Biosystems) [GSU]* | Sanger/CE sequencing, fragment analysis and diagnostic testing |
| 2. | Step One Plus Real Time PCR (Applied Biosystems) | TaqMan probe based allelic discrimination and gene expression assay |
| 3. | 2100 Bioanalyzer (Agilent) | Rapid and sensitive quality control of DNA and RNA |
| 4. | Qubit flurometer and Spectrophotometer | Quantification of DNA and RNA |
| 5. | Nanodrop [GSU]* | |
| 6. | Thermal Cyclers (Applied Biosystems) | Rapid amplification of DNA and RNA |
| 7. | Milli-Q System (Millipore) | Ultra-pure water (distilled and double distilled water) purification system for routine molecular biological works |
| 8. | Gel electrophoresis and Imaging system (Gel Doc) | Visualization and documentation of nucleic acids and proteins |
| 9. | Laminar airflow cabinets with UV | Microbiome DNA isolation and PCR work |
| 10. | Light microscope | Visualization of bacterial cells |
| 11. | Incubators, Digital water baths and Dry baths | DNA, RNA isolation and RFLP |
| 12. | Cold Centrifuge (Allegra-25R, Eppendorf), Microfuge (Healforce, eppendorf) | DNA and RNA isolation purposes |
| 13. | Ultra low temperature Freezers (-200C, -800C) and Normal freezers (40C) | Bio-specimen storage |
| 14. | Digital pH meter, Digital Shaker – Rocker, Vortex, Electronic balance, Mini centrifuge, Micro-oven | General lab work purposes |
| 15. | Computer workstations | Data analysis with parallel computing |
| 16. | Desktop computers | Data analysis and general computational work |
| *GSU: Genetic Services Unit in BMGU | ||
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Another major goal of BMGU is to provide genome-based diagnostics to medical conditions. Towards accomplishment of this goal, based on a proposal submitted to the Govt. of West Bengal as a project (P.I.: Professor Partha Majumder), a Genetic Services Unit (GSU) has been set us within BMGU. GSU gets referrals from various departments of government medical colleges and hospitals. GSU has standardized and has provided diagnostic services pertaining to various genetic disorders. A summary is provided below.
GSU referral statistics
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Disease (Total – 45) |
Number of patients tested ( up to 14.11.2018) (Total – 1024) |
| Beta Thalassemia/ HbE trait | 374 |
| Down Syndrome | 69 |
| Duchenne Muscular Dystrophy | 51 |
| Spinal Muscular Atrophy | 74 |
| Wilson Disease | 57 |
| Azathioprine Sensitivity | 72 |
| Cystic Fibrosis | 50 |
| Achondroplasia | 35 |
| Haemophilia A | 15 |
| Dystonia | 25 |
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Other rare diseases (Sickle cell anaemia, MELAS, Connexin 26 common mutation, Factor V Leiden mutation, Fragile X syndrome, Spinocerebellar ataxia type 1,2,3,7,12; Friedreich`s ataxia; Myotonic dystrophy; Huntington disease; Familial hypokalemic periodic paralysis; Chromosomal microdeletion syndromes; Prader – Willi syndrome/ Angelman syndrome) |
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