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Genetic Research Centre, Mumbai engaged in research and service on genetic disorders.

Genetics is the cradle of biological sciences. The knowledge of genetics and genomics has revolutionised health care all over the world. The control of communicable diseases has always been prioritized by the National Health programmes in India. However, with strategies to control infectious diseases such as Universal Immunization Programme, the focus has shifted from communicable to other diseases of public health importance. Hereditary disorders are now recognized to be responsible for a significant burden on public health systems. Genetic disorders place considerable health and economic burden not only on affected people and their families, but also on the community and the nation at large. With the completion of Human Genome Project (HGP) in April 2003 and the advances in molecular genetics, there is now a better understanding of genetic basis of diseases. This has helped the scientist in primary and secondary prevention of genetic diseases, carrier testing, genetic diagnosis, prenatal diagnosis and preimplantation genetic diagnosis. It is now possible to test several genetic diseases even at preclinical stages, allowing for early intervention and genetic counseling.

In humans, over 6000 genetic disorders due to chromosomal / gene mutations have been identified. Congenital malformations and inborn errors of metabolism account for a significant cause of neonatal and infant morbidity and mortality. In adults degenerative disorders too have a genetic basis. Genetic disorders in all age groups are a major concern in India. Common disorders are Down syndrome, Fragile X syndrome, idiopathic mental subnormality, haemolytic anaemias, inborn errors of metabolism and recurrent spontaneous abortions.

The Genetic Research Centre, Mumbai had its humble beginnings in early nineteen seventies as a genetic unit of the Council's Institute for Research in Reproduction (IRR). The primary mandate of the Centre has been genetic diagnosis, counselling, prenatal diagnosis and genetic screening. Under the able leadership of clinician Dr. Lalit Ambani and scientist Dr. Peter Thomas, followed later by Dr. Z.M. Patel and Dr. S.S. Dhareshwar the Center received recognition and a full fledged ICMR Genetic Research Center was established in May 1986 and became the twentieth permanent centre of ICMR. The Genetic Research Centre is the only ICMR centre that undertakes research activities directed towards prevention of genetic disorders by counseling, screening and prenatal diagnosis. The first cytogenetic diagnosis of Down syndrome was carried out at the Center. The Center was shifted to Bai Jerbai Wadia Hospital For Children from 1986 to 2000. The Centre was again relocated to its present location at the National Institute for Research in Reproductive Health in January 2000. The Centre has completed twenty five years of yeomen service to the nation and research.













The Centre also envisages research in many areas with a vision to improve maternal and child health by use of cytogenetic, molecular and biochemical techniques. To meet this objective, the Centre has undertaken the following initiatives since its inception.

(i) Identify various genetic disorders prevalent among different ethnic groups in the population.

(ii) Evolve effective methods of diagnosis, management and prevention.

(iii) Conduct operational research connected with planning National Reproductive and Child Health Programmes.

The Centre has a well-equipped laboratory with state of art facilities. Since inception the Centre has participated and successfully completed the following research projects:

(i) Birth defect surveillance programme.

(ii) Cytogenetic and biochemical tests for mental retardation.

(iii) Prenatal diagnosis of genetic disorders and genetic counseling.

(iv) Anthropometric measurements in newborn and school children.

(v) Pre-conceptional folic acid supplementation.

(vi) Feasibility of introducing genetic services in National Family Welfare Programme in rural areas, phase I and II.

(vii) Control programme of thalassaemia by antenatal screening.

(viii) Cryptic chromosomal translocation in couples with bad obstetric history.

(ix) Validity of expression of FMRP (Fragile X mental retardation protein) in lymphocytes as a screening test for FragileXsyndrome.

(x) Development and validation of ELISA for HbA2-A novel screening method for thalassaemia carriers.

(xi) Ascertainment of chromosome 22q11.2 micro deletion in cases of non-syndromic congenital heart disease

The Centre proposes to undertake the following research and clinical activities in the near future:

* Setting up a National Referral Centre for single gene disorders viz. inborn errors of metabolism, genodermatosis, skeletal dysplasias and X-linked mental retardation.

* Cytogenetic and molecular studies on mental retardation.

* Biochemical and molecular analysis of inborn errors of metabolism.

* Molecular analysis of genodermatoses.

* Molecular analysis of skeletal dysplasias.

* Genetic testing for infertility, reproductive disorders and disorders of sex development.

* Establishment of National Database for Genetic Disorders.

* Setting up of a Pre-implantation Genetic Diagnostic (PGD) facility.

* Setting up genetic clinics at primary health centers in rural areas.

The GRC, Mumbai has well qualified and experienced clinical and laboratory geneticists. The Centre has state-of-art equipment and infrastructure. The Centre is soon acquiring microarray system, high throughput DNA sequencers, ultrasonography machine with 3D/4D capabilities for accurate diagnosis of fetal anomalies.

To disseminate the knowledge on genetic disorders, the Centre regularly conducts seminars, symposia, workshops. Training programmes for under and post graduate students, technicians, clinicians, geneticists are also organized. It is proposed to develop GRC as a "Centre of Excellence" for diagnosis and prevention of genetic diseases. The ultimate goal of the Center is that the research activities will get translated into effective genetic services and thus help the marginalized section of the society.

Tuberculosis Research Centre, Chennal Renamed as the National Institute for Research in Tuberculosis

Tuberculosis Research Centre, Chennai celebrated its Foundation Day on August 1,2011. Secretary, Department of Health Research, Govt, of India and Director General, ICMR, Dr. V.M. Katoch; Financial Advisor of ICMR Shri Sanjeev Datta and Sr. Deputy Director-General (Administration), ICMR Shri Arun Baroka participated in the celebrations. Prof. M.V. Natrajan, Vice Chancellor of Dr. M.G.R. Medical University, Chennai was the Chief Guest of the Function. Dr. S.M. Mehendale, Director of the Council's National Institute of Epidemiology, Chennai delivered the Foundation Day Oration.


Other dignitaries participated in the function included, Former Director of Tuberculosis Research Centre and Director General of ICMR Dr. S.R Tripathy, Former Directors of Tuberculosis Research Centre Dr. R. Prabhakar and Dr. PR. Narayanan, Former Director of the Council's Institute for Research in Medical Statistics, Chennai Dr. S. Radhakrishna and many other retired scientists and staff members of the Centre.

In view of the significant contributions of the Tuberculosis Research Centre in the field of Tuberculosis Research, the Centre was rechristened as the National Institute for Research on Tuberculosis on this occasion. Dr. V.M. Katoch unveiled the plaque having new name of the Centre at its foundation day.

Highlights of interview with Dr. Sanjeev D. Kholkute, director-in-charge of Genetic Research Centre, Mumbai on scientific activities and achievements of the Centre

Q.1. What are common genetic diseases prevalent in Indian community and specific advise you would like to suggest?

Dr. Kholkute: Consanguineous marriages are common in some parts of India. This leads to high incidence of recessive genetic disorders. Conditions like thalasasemia, sickle cell disease, spinal muscular atrophy, etc. have long been recognized in India and the molecular basis of these has been well established.

Inborn errors of metabolism are emerging as an important cause of paediatric mortality and morbidity. Most of them, if not all, are recessive single gene disorders.

New born screening of all babies for congenital hypothyroidism, congenital adrenal hyperplasia, galactosemia, methyl malonic aciduria and maple syrup urine disease can be initiated. Carrier screening is possible for diseases like thalassaemia. Pre-pregnancy screening for these disorders is advisable to determine the risk of having an affected child. Prenatal diagnosis can be provided by mutation analysis on fetal material obtained after chorion villus sampling or amniocentesis.

Chromosomal abnormalities are common, They include conditions like Down syndrome, Turner syndrome, etc. The incidence of Down syndrome is also increasing as a number of working women are delaying pregnancies.

Biochemical screening for Down syndrome can be done from the maternal blood during the first/second trimester. For high risk pregnancies fetal chromosomal analysis for diagnosing Down syndrome should be done. Down syndrome screening is now being routinely advised to couples receiving genetic counseling at the Center.

Q.2. What are the priority areas and future plans of Genetic Research Centre and how does it contribute to the National Health Programmes?

Dr. Kholkute: GRC's main aim is to reduce the burden of genetic disease by diagnosing and counselling for specific genetic disorders and providing accurate prenatal diagnosis.

Single gene disorders like Inborn errors of metabolism (lEMs) are now being recognized as an important cause of perinatal mortality and morbidity. The priority would be to identify the single gene disorders prevalent in India and establish the molecular basis in these cases. Genetic Research Center proposes to be a center of excellence in diagnosis and screening of IEMs. Screening for children suspected to have IEMs and preventing recurrence in high risk families by prenatal diagnosis can be an effective part of programmes included in the Maternal and Child Health category.

Q.3. Does any specific ethnic group or area is more prone to genetic diseases?

Dr. Kholkute: Genetic diseases are pan-ethnic, however, certain communities do have higher prevalence of the disease. It is well recognized that certain communities like Kutchis, Lohanas, and Sindhis, are known to have higher prevalence of thalassaemia. Hb E disease is prevalent in Orissa and West Bengal. Sickle cell disease is common in the eastern parts of Maharashtra. G6PD deficiency is more in Parsis community. Certain leukodystrophies (megalencephalic leukodystrophy) have been shown to be common in the certain community and the founder mutation has also been identified previously. Most patients with Tay Sachs disease referred to us from Gujarat are belonging to a particular community. The founder mutation has also been identified.


Q.4. Do the environmental changes may also have some influence on genetic diseases?

Dr. Kholkute: Chronic or acute exposure to ultraviolet and X-rays radiation in the environment or in radioactive toxic waste can cause heritable mutations and genetic disease. Benzo[a]pyrene, diol epoxide (a major component of tobocco smoke), acridines, aflatoxin, alcohol are environmental contaminants known to cause genetic damage and cause genetic disease.

Mutations in the genetic material are also a part of the evolution process. Deleterious mutations decrease the chances of survival and beneficial mutations enhance survival. It has been postulated that thalassaemia-belt of the world coincides with the malaria belt of the world. This has occurred because beta globin mutations leading to thalassaemia increased haemoglobin F in human red blood cells which conferred partial resistance to the malarial parasite. Thus during evolution carriers of beta thalassaemia were probably selected over those who did not harbor mutations in the beta globin gene. Thus tropical climate which favoured malaria also favoured persistence of thalassaemia.

Q.5. If both the parents are or one of the parents is having genetic disorder, what are the chances of their kids getting genetic disorder?

Dr. Kholkute: Genetic disorders can be classified as monogenic, poly genie and multifactorial disorders. Monogenic disorders are further classified as autosomal dominant, autosomal recessive, sex linked recessive and dominant disorders. Single gene disorders are classified as either dominant or recessive disorders.

Autosomal dominant disorders have a recurrence risk of 50%, if either parent is affect. In case of autosomal recessive disorders, the risk of having an affected child is 25 %, wherein the partners are carriers for the same genetic disorder. Consanguinity and inbreeding increases the risk for recessive disorders.

Sex linked or X linked recessive disorders are usually seen in males as they have only one copy of X chromosome. Females are usually carrier for the disorder. When mother is a carrier for an X linked disorder, sons have 50% chance of being affected and 50% chance of being normal, while daughters have 50% chance of being carrier and 50% chance of being normal. X-linked recessive disorders in father-none of the male offsprings are affected and all female offsprings are carriers.

In X-linked dominant disorders males and females are affected, severity is higher in males as they have only one X chromosome. Hence survival in males decreases due to which most of the cases are females.

Y linked conditions are extremely few and the transmission is from father to son only.

Molecular diagnosis in these couples would assist accurate genetic counseling and risk prediction.

In polygenic disorders, many genes collectively contribute to the disorder. In such cases an empiric risk is given which is the general risk seen in a particular population. If more than one family member is affected then the recurrence risk is more than that of the population.

Multifactorial disorders are those wherein both genetic and environmental factors are responsible for the disorder. In such situation an empiric risk can be predicted.

Compiled by Dr. Parag Tamhankar Scientist C, Dr. Dhanjit Kumar Das, Scientist B, Senior Counceilor, Dr. Lakshmi Vasudevan and Director-in-charge, Dr. Sanjeev, D. Kholkute
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Author:Tamhankar, Parag; Das, Dhanjit Kumar; Vasudevan, Lakshmi; Kholkute, Sanjeev D.
Publication:ICMR Bulletin
Article Type:Abstract
Geographic Code:9INDI
Date:Aug 1, 2011
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