Establishment of Human Genetic Research cum Counselling Centres at Srinagar
In the year 1993, a research project “ Survey and Cytogenetic Study of Mentally Retarded Children in Jammu “ was sponsored by J & K State Council for Science & Technology. Workdone under the project was submitted for evaluation to J&K State Council for Science & Technology. Based on the recommendations of experts, J&K State Council for Science & Technology established a “ Human Genetic Research-cum-Counselling Centre “ at Jammu with Prof. Subash Gupta, Professor of Zoology, Department of Zoology, University of Jammu and Dr. T.R.Raina, Head Blood Transfusion Department, Govt. Medical College, Jammu as the Principal Investigators. The center was initially set up in Government Medical College, Jammu in collaboration with Department of Zoology, University of Jammu during 1997-98.
During the financial year 2003-04 a similar type of centre was established at Sher-i-Kashmir Institute of Medical Sciences, Soura, Srinagar with Prof.Mushtaq Sidiqui,Head , Department of Immunology as Principal Investigator and Director, SKIMS as Chief Coordinator.
These established centers mainly deal with:
i) Detection of chromosomal abnormalities in clinically suspected cases of:
ii) - Congenial anomalies
- Infertile Couples
- Couples with bad obstetric history
- High-risk families etc.
iii) Genetic Counselling
iv) Public Awareness about Genetic diseases.
Brief Work Done/ Studies Conducted:
The brief details of work done/studies conducted/patients provided diagnosis-cum-counselling so far against the funds provided to the center by J&K State Council for Science and Technology are as under:-
S.No Year Funds Target fixed Target Achieved
1. 2001-02 2.50 2.46 92 89
2. 2002-03 2.89 1.50 127 91
3. 2003-04 3.00 2.86 150 108
4. 2004-05 21.00 20.76 200 200
5. 2005-06 15.17 8.80 400 200
6. 2006-07 6.00 3.00 400
Studies/ Investigations Carried at Present
Initially the chromosome study of the patients was done from the bone marrow which was a difficult and painful procedure. The bone marrow method was replaced by tissue culture which provided relief to the patients. At present genetic study is done from lymphocyte culture of patients where only 0.3 ml of blood is used for the complete study of chromosomes so as to make the correct diagnosis of the disease. The major diseases which have been covered by making chromosome study so far as:-
i) Down Syndrome – Major cause of mental retardation
ii) Turner Syndrome—Responsible for mental retardation and failure of mensuration( Primary Amenorrhoea)
iii) Ambiguous Geneilia—Failure of the phenotypic sex
iv) Infertile Couples—Incapable to have a child
v) Klinefelter Syndrome—Responsible for mental retardation and reproductive failure
vi) Fragile-X-Second most common cause of mental retardation, next to Down Syndrome.
Where ever required the patients have been given genetic counseling and despite meager facilities, success has been achieved in most of the cases.
Future Expansion/Upgradation Plans
Molecular genetic study, Pre-natal diagnosis & Harmonal assays, which are important pre-requisites for such a centre could not be taken up due to lack of funds and infrastructure. The centers have not so far been able to cover the following aspects of Human Genetic Research:
i) PCR based screening of diseased genes- numbering nearly six thousand
ii) DNA Fingerprinting- mutation detection and crime detection
iii) Southern Hybridization-mutation detection
iv) Northern & Western Blotting-mutation detection
v) Fluorescent in-situ hybridization( FISH)-rapid technique for mutation detection
vi) DNA sequencing-reading the arrangement of the bases
vii) Primer/Probe designing-for the independent working of the center
viii) Enzymology-study of enzymes
ix) Automatic Karyotyping-for rapid analysis of chromosomes
The work done at the said center has been evaluated by a top ranking cytogeneticist and molecular biologist of the country,Prof.Lal Ji Singh, Director, Central for Cellular and Molecular Biology, Hyderabad who recommended upgradation of the centre .
The work done in the centre has also been evaluated by Dr.A.J.S. Bhanwar, Prof.& Head, Department of Human Genetics, Guru Nanak Dev University, Amritsar and Prof. Ravi Prakash, Dean Faculty of Bio-Sciences, Maharashi Dayanand University, Rohtak. Both of them recommended the upgradation of the centre.
Keeping in view the work done at the centre, growing demand of the societydue to increased awareness about the congenital diseasea and the recommendations of the experts, Science & Technology has sanctioned upgradation of two existing Human Genetic Counselling cum Research Centres at a total cost of Rs.1191.00 lacs spread over three years. The objective is to provide Genetic Counselling and conduct research on various Genetic disorders prevalent in the state of Jammu & Kashmir. The composition of the two advanced centers is as under:
i) Srinagar Centre ( Chief Coordinator, Director,SKIMS,Soura, Principal Investigators Dr. Mushtaq Siddiqi, Department of Immunology and Dr.Mohd Ashraf Ganie, Department of Endocrinology,SKIMS,Soura ).
ii) Jammu Centre ( Chief Coordinator, Vice-Chancellor,Jammu University, Principal Investigators Prof. Subash Gupta,Department of Zoology,University of Jammu and Dr. T.R.Raina,Department of Blood Transfusion, Govt. Medical College,Jammu).