Go to link http://www.genomefoundation.in/
About/Genesis of Genome Foundation
Human disease and suffering are as old as humanity. A class of diseases that not only causes physical misery but also psychological trauma to the patient and his family, is genetic disorders affecting successive generations. The distressing and disturbing truth in this sad saga is that there is no cure available for these diseases and hence prevention of the inheritance of such diseases becomes absolutely essential. The last two decades have seen the emergence of modern cytogenetics and molecular genetics along with the development of medical genetics from a purely academic discipline into a clinical specialty of great importance. The role of various forms of genetic screening in the prevention of genetic diseases is now well established and hence genetic services are becoming increasingly popular throughout the world. In the absence of specific treatment, and with gene therapy being a long cherished goal, it is very important to continue with the concept of genetic diagnosis, carrier detection, genetic counseling, pre-pregnancy monitoring, pre-implantation genetic diagnosis and prenatal diagnosis. The identification of a genetic defect in patients can be utilized as a handle to track the inheritance of the defective gene in the fetus by performing fetal sampling procedure during early pregnancy. In this backdrop, genetic diagnosis has immense potential with particular stress on prospective screening and counseling for common disorders such as thalassemias, muscular dystrophies, etc.
The problem of genetic disorders in India is enormous. Millions of people are suffering from inherited diseases like thalassemia, muscular dystrophy, diabetes mellitus, coronary heart diseases etc. One-sixth of the world population living in India has never been systematically studied for the prevalence of inherited genetic disorders. Several diseases prevalent in India are yet to be identified and reported. For example, there are families whose female members over four generations do not have fingers and toes; many families exist with several individuals affected with muscular dystrophies; there also exist families where generation after generation only disabled children are born. These cannot be explained on the basis of our current knowledge and hence their genetic basis needs to be established. This is just tip of the iceberg!!!
Indians are known to be susceptible to common diseases such as diabetes mellitus and coronary heart diseases due to their genetic makeup. It might soon be possible to use biomarkers of genetic susceptibility to identify individuals at enhanced or reduced risk of disease, and to create clinically useful diagnostic or therapeutic methods. Such a programme would be a quantum leap forward in preventive medicine, practiced on genotype-specific basis. It is pertinent that this knowledge is utilized for the welfare of people of India, especially the underprivileged and uncared-for, with an aim to enhance their quality of life. Unfortunately, there is a huge gap between the pace at which new discoveries and technologies are being developed, and the pace with which they get utilized by clinicians for the benefit of the common man. It is essentially the need to reduce this gap that has led to the establishment of “Genome Foundation” – an organization, which will concentrate on addressing the above issues.
The activities of the Foundation will be extended throughout India by setting up collection and diagnostic centers through networking with hospitals and charity organizations as well as by people’s participation.
Objectives of Genome Foundation
Phase 1
Ø Hemoglobinopathies including Thalassemias, Sickle Cell Anemia, Hemoglobin E disease
Ø Musculopathies including Duchenne & Becker Muscular Dystrophy, Spinal Muscular Atrophy, etc
Ø Neurodegenerative diseases like Spinocerebellar Ataxias, Huntington’s disease
Ø Mental retardation syndromes like Fragile-X Syndrome
Ø Bleeding disorders like Hemophilia A and B; and
Ø Mitochondrial disorders
À Molecular diagnostic services
Ø For infectious diseases to know the diagnosis, and planning therapeutic strategies; and
Ø For predisposition, early detection and treatment of cancer.
À Chromosomal analysis for various genetic disorders such as
Ø Dysmorphic features/Congenital malformations
Ø Delayed developmental milestones/growth retardation
Ø Mental retardation
Ø Recurrent abortions
Ø Contiguous gene syndromes like Prader-Willi Angelman Syndrome, DiGeorge Syndrome
Ø Hematological malignancies and solid tumours; and
Ø Male and female sterility.
À DNA profiling and related services
Ø For civil and forensic purposes such as paternity disputes, immigration matters, mass disaster, including wildlife; and
Ø For authentication of plants, seeds, screening of various diseases
Objectives: Phase-II
À Research and Development
Ø Develop new markers and protocols for rapid and efficient screening of various diseases
Ø Design and develop modules for gene therapy of various genetic disorders and generate various organs using stem cell technology for cell and tissue therapy (regenerative medicine)
Ø Promote and assist research and development activities in related areas; and
Ø Transfer technology developed by leading R&D institutions, such as the Centre for Cellular and Molecular Biology (CCMB), for the benefit and welfare of the people.
À Training
Ø To conduct medical education programmes to update knowledge of clinicians
Ø To conduct intensive courses in medical genetics, and other related specialities; and
Ø To impart training in genetic diagnosis, DNA profiling and Bioinformatics.
À Mass Education
Ø To create public awareness about genetic disorders, cancer and infectious diseases, their prevention and control; and
Ø To create awareness about the toxic effects of environmental pollution on the genome and health of the people
À Networking
Ø To ascertain true prevalence of genetic disorders throughout the country
Ø To set up resource centers throughout India for providing prophylactic, diagnostic and therapeutic services to the people including from rural areas
Ø To collaborate with leading R&D institutions/hospitals in the areas in India and abroad; and
Ø To serve as a knowledge base to assist in promoting and setting up of biotech industries.
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