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 ABOUT THE DEPARTMENT
 
 
 
 
 
   
 

The sequencing of the human genome (June 2000) has ushered in a new era in the field of Molecular Medicine. Advances in molecular biology technologies have provided us with an understanding of the mechanisms of disease at the molecular level. This understanding can now be translated into diagnostic, prognostic, and therapeutic tools. It is now possible to phenotype and genotype human tumors to increase the accuracy and reproducibility of pathologic diagnosis and treatment. The Department of Molecular Medicine and Biology at Jaslok Hospital and Research Centre aims at providing a broad menu of diagnostic tests probing molecular structure and functions in diseased tissues and biological fluids. Current research in the department on the human genetic front focuses on the differences in genes of normal and affected individuals in evolving various genetic markers for diagnosis of human diseases. The Department is well equipped with sophisticated facilities and the department has obtained a license for working with radioactive isotopes for research program and diagnostics

  
   
   
     
 FACILITIES & SERVICES
 
 
     
 

Diagnostics and Research Facilities:
The Department of Molecular Medicine & Biology is well equipped with sophisticated Instruments include ABI 3100Genetic Analyzer, M.J.Research Dyad PCR Machine and ABI 7700 Sequence detection system for Real Time PCR

Diagnostics Facilities Diagnostics Facilities

 

  
   
   
 

Molecular Diagnostics Tests Facility

The Department of Molecular Medicine and Biology developed PCR based diagnostics tests for detection of Viruses, Bacteria, tests for Neurological and Hematology disorders.

Viruses

 

Test for Cytomegalovirus (CMV)

CMV is an important pathogen in immunocompromised patients, a common congenital viral infection and the leading cause for mental retardation and non-hereditary sensor neural deafness due to an infectious agent.

  • Cytomegalovirus (CMV) PCR (Qualitative)
  • Cytomegalovirus (CMV) Real Time PCR (viral Load)
Sample Required - 10 ml Blood in EDTA or CSF or Urine

Tests for Hepatitis B Virus

HBV is associated with chronic and acute hepatitis, liver cirrhosis and a majority of hepatocellular carcinomas, is detected by PCR. It is very important to know the genotype of HBV for definite treatment A to G genotype have been identified for HBV gene.. Recently it has been shown that YMDD mutation known to cause resistant to Lamivudine therapy. We have developed all these diagnostic tests for diagnosis and treatment of Hepatitis B Virus.

  • Hepatitis B Virus PCR (Qualitative)
  • Hepatitis B Virus Real Time PCR (Viral Load)
  • Hepatitis B Virus YMDD Mutation (Sequencing)
  • Hepatitis B Virus Genotyping (Sequencing)

Sample required: 10 ml Blood in EDTA or liver biopsy

Test For Hepatitis C Virus (HCV)

HCV is one of the most common causes of post transfusion hepatitis, and it is associated with acute and chronic liver diseases and hepatocellular carcinomas. RT-PCR is used to detect HCV sequences. HCV has 6 genotypes and sequencing analysis mainly assesses that. We have all three tests for diagnosis and treatment of Hepatitis C Virus.

  • Hepatitis C Virus RT/PCR
  • Hepatitis C Virus Real Time PCR (Viral Load)
  • Hepatitis C Virus Genotyping by sequencing
Sample required: 10 ml Blood in EDTA or liver biopsy

HPV Detection and HPV 16/18 typing:

High risks HPVs are the established agents of cervical cancers. HPV type 16/18 is often associated with cervical cancers in India. Consensus primers are used to amplify distinct regions of the HPVs from cervical scrapings/biopsies. The PCR product is then digested with different restriction enzymes to yield the unique digestion pattern.

Sample required: Cervical scraping

Epstein-Barr Virus (EBV) DNA PCR:

EBV, a lymph tropic virus, is associated with Burkitt's lymphoma, nasopharyngeal carcinoma, B-cell lymphoma; oral hairy cell leukoplakia in HIV infected patients, infectious mononucleosis and sarcoidosis.

Sample required: 10 ml Blood in EDTA

Bacteria

 

Helicobacter Pylori CAG 'A' PCR:

H. Pylori is one of the most common bacterial infections in humans, and is the etiologic agent of chronic gastritis, gastric and duodenal ulcers. The International Agency for Research on Cancer, has classified H. Pylori as a definitive carcinogen, associated with Gastric Cancer.

Sample required: Gastric biopsy

PCR for Leptospirosis

The deluge of 26/07/05 brought in its wake a slew of water-borne diseases, including dengue and leptospirosis. We have set up a sensitive PCR-based method for early detection of leptospirosis.

Sample required - 10 ml Blood in EDTA or Urine

Malarial Parasites DNA PCR:

Malaria is a worldwide disease with more then 200 million suffering from malarial infection. We have developed a sensitive and specific PCR-based method for the detection of Plasmodium falciparum, Plasmodium vivax, Plasmodium ovale and Plasmodium malariae infections.

Sample required: 10 ml Blood in EDTA

 
     
   
   
  Neurological disorders  
     
 
 
 
 

 

Spinocerebellar Ataxias (SCAs):

SCAs are a heterogeneous group of neurodegenerative disorders. Genetically, these disorders can be divided into autosomal recessive, autosomal dominant and isolated cases. The diagnosis of SCAs is done with the help of DNA PCR to detect an expansion of trinucleotide repeats on the specific chromosomes. We have developed methods for detection of 5 Spinocerebellar Ataxias.

  • PCR for Spinocerebellar Ataxias 1 (SCA-1)
  • PCR for Spinocerebellar Ataxias 1 (SCA-2)
  • PCR for Spinocerebellar Ataxias 1 (SCA-3)
  • PCR for Spinocerebellar Ataxias 1 (SCA-6)
  • PCR for Spinocerebellar Ataxias 1 (SCA-7)
Sample required -10 ml Blood in EDTA

  
   
  SCA3  
 

Friedreich's Ataxia:

Friedreich's Ataxia (FRDA) is an autosomal recessive neurodegenerative disorder, and is the most common inherited ataxia. It is associated with a mutation resulting in trinucleotide GAA repeat expansion in the frataxin gene (chromosome 9).

Sample required: 10 ml Blood in EDTA

DRPLA DNA PCR:

Dentatorubral Pallidoluysian Atrophy (DRPLA) is analyzed by the specific CAG repeats in the DRPLA gene (chr. 12). Normal individuals show up to 34 CAG repeats, and affected individuals have larger expansions of the repeats.

Sample required: 10 ml Blood in EDTA

MELAS DNA PCR:

We have developed a PCR - Nucleotide Sequencing assay for the detection of diagnostic mitochondrial mutations in Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS). MELAS results from a mutation in the mitochondrial DNA of the cell. Children typically present with stunted growth, episodic vomiting, seizures, and recurrent cerebral insults resembling strokes and causing hemiparesia, hemianopia, or cortical blindness. The disease is inherited maternally.

Sample required: 10 ml Blood in EDTA

Huntington's Disease:

Huntington's Disease is an autosomal dominant neurodegenerative disorder, characterized by expansion of specific CAG repeats. The DNA-PCR at our laboratory analyzes the specific normal or expanded CAG repeats. The CAG expansion range in a normal individual is 11-32 CAG repeats, while individuals affected with HD have larger expansions of 42 and more repeats.

Sample required: Blood (10 ml EDTA)
 
   
 

Hematological disorders:

BCR-ABL PCR Test for Chronic Myeloid Leukemia

Chronic Myelogenous leukemia (CML) is characterized by the Philadelphia chromosome (t 9:22) translocation detected by characteristic BCR/ABL fusion transcript in 95-99 % CMLs and ~ 20 % ALLs, using RT-PCR test. The RT-PCR and Real time PCR tests are highly sensitive and specific tests, hence, useful for monitoring presence of minimal residual diseases.
 
   
   
 

qPCR is the only method that allows disease monitoring in these patients and it is important technology for monitoring of Imatinib treatment in CML or ALL patients. It is more sensitive and specific for evaluation of Minimal Residual Disease than FISH technology available presently. We have set up both these tests in our laboratory.

  • BCR-ABL RT/PCR (Qualitative)
  • BCR-ABL Real Time PCR (Quantitative)
Sample required: - 10ml Blood or Bone Marrow.

Beta-Thalassemia (5 Common Indian Mutations):

Thalassemia is an autosomal recessive condition and is caused by point mutations, insertions or deletions in the globin gene. Although, 35 mutations have been recorded in the Indian population, 90% of the thalassemic carriers in the Indian patient group, contain the five common mutations, which are IVS1-5 (G-C), IVS1-1 (G-T), FS41/42 (CTT), FS8/9 (+G) and 619 bp deletions.

Sample: Blood (10 ml EDTA)

Factor V Leiden Mutation PCR-RFLP:

PCR-RFLP is used for detection of blood coagulation Factor V Leiden mutation (Arg 506 Gln). The Factor V Leiden mutation is associated with increased risk for thrombosis.

Sample required: 10 ml Blood in EDTA

Natural Killer Cell Test for Infertility

We have set up a test for assessment of Natural Killer cell population in infertile women having natural spontaneous abortions or abortion after IVF procedure. The assay determine population of following cells by flow cytometry CD3, CD16+CD56, CD56 and CD19

Sample required: - Fresh 10 ml blood (Needs previous appointment)

  
     
   
   
     
RESEARCH PROJECTS  
     
 

On going & proposed Research Programs:

  • Development of sensitive and precise diagnostic test for BCR-ABL Transcript for diagnosis and therapy of CML and ALL patients by using RT/PCR and Real time PCR
  • Genetic Abnormalities in Gall Bladders of Patients from Diverse Geographic Locations in India
  • Prevalence and genotyping of Hepatitis and Hepatocellular Carcinomas: Clinical Correlation with disease progression and treatment.
  • BRCA1 and BRCA2 germ line mutation studies in Indian Breast and ovarian cancer patients to assess the risk factor in their family members.
  • Molecular studies in familial Hereditary Non Polyposis Colon Cancer (HNPCC)
  • Development of Diagnostic markers for early detection of Leptospirosis at adverse environmental conditions.
  • Molecular Analysis of Wilson Diseases (WD) - Detection of mutations in the ATP7B gene in India populations.
  • Investigation of viral genotypic drug resistance mutations in seropositive individuals with reference to its prognostic impact on antiretroviral therapy.
  
     
  Training Program:  
     
 

One-Month Training Program
One-month training program in "Advances in Molecular Medicine & Biology" for B.Sc, M.Sc., Ph.D, MBBS, MD. and DNB students.

  
     
 
Short Term Research Program in biomedical Sciences
Department of Molecular Medicine and Biology has started 4, 6, and 12 months research programs in various faculties of Medicine and Biology for post graduate students in science, Medicine, Pharmacy and Bioengineering faculties. This research program will be a part of on-going projects of this laboratory. Only interested student who wishes to pursue research career in the field of Molecular Biology and Genetics and needs baseline research experience should contact for further details.
 
     
  Introducing Training programs in automated DNA Sequencing and Real Time PCR for Molecular diagnostic study.  
     
     
   
   
     
  DOCTORS IN ATTENDANCE
     
 
  Head of Department
   
 

Dr. Pravin D. Potdar
M.Sc, Ph. D., DMLT, DHE, DMS

   
       

Contact:-

Dr. Pravin D. Potdar.MSc., Ph.D.
Head,
Department of Molecular Medicine & Biology,
Jaslok Hospital & Research Centre,
15, Dr. G.D. Deshmukh Marg, Mumbai 400026.
Phone – 66573445
Mobile- 9820833530.
E-mail -ppotdar@jaslokhospital.net

  
   
   
 
 
 
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