January 2014

The School of Life Sciences (SoLS), previously known as Manipal Life Sciences Centre, is identified as TIFAC-CORE (Technology Information, Forecasting and Assessment Council - Centres of Relevance and Excellence) under vision 2020 in the area of Pharmacogenomics. SoLS is actively promoting advanced research in India and abroad. Research and developmental activities are also supported by DBT, GOI in Translational Medicine, ICMR, DST, BRNS and several other industry partners.

The Indian Council of Medical Research (ICMR), New Delhi, the apex body in India for the formulation, coordination and promotion of biomedical research, is one of the oldest medical research bodies in the world. As early as in 1911, the Government of India set up the Indian Research Fund Association (IRFA) with the specific objective of sponsoring and coordinating medical research in the country. After independence, several important changes were made in the organisation and the activities of the IRFA.

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About Authors:
Tapan Behl*, Ishneet Kaur, Puneet Sudan, Monika Sharma, Dr. Heena Goel
Assistant Professor, Department of Pharmacology,
Doaba Group of Colleges, Kharar, Mohali
tapanbehl31@gmail.com

Abstract:
Von Hippel-Lindau (VHL) syndrome is a rare genetic neoplastic disorder, arising from germline mutations in the VHL gene, characterized by the development of visceral cysts, specific benign and malignant tumors in multiple organ systems that have subsequent potential for spiteful change. It is caused by point mutations or deletions in a tumor suppressor gene. A tumor suppressor gene is the one which keeps cells from growing and dividing too rapidly in an uncontrolled way. Mutations in this gene prevent production of the VHL protein or lead to the production of an abnormal version of the protein. An altered or missing VHL protein cannot effectively regulate cell survival and division. As a result, cells grow and divide uncontrollably to form tumors and cysts that are characteristic of Von Hippel-Lindau syndrome. Although there is great variation in the clinical presentation, those who have a mutated gene are at greatly increased risk of developing spinal hemangioblastoma, renal cell carcinoma (RCC), retinal hemangioblastoma, cerebellar  hemangioblastoma, pheochromocytoma, pancreatic and renal cysts, endolymphatic  sac tumors, hemangiomas of the adrenals, liver and lungs, and papillary cystadenoma of the epididymis or broad ligament. The age at which the tumors present ranges from early childhood to the seventh decade of life. Early diagnosis, screening of family members and lifelong surveillance of VHL patients is recommended.

G.B. Pant Institute of Himalayan Environment and Development was established in August 1988, at Kosi-Katarmal, Almora, as an Autonomous Institute of the Ministry of Environment and Forests, Government of India. The Institute is identified as a focal agency, to advance scientific knowledge, to evolve integrated management strategies, demonstrate their efficacy for conservation of natural resources and to ensure environmentally sound development in the entire Indian Himalayan Region (IHR). Apart from undertaking research and technology development and/or demonstration on its own, the Institute has established linkages with National and International Organizations committed to environment and development linked issues in the mountain regions.

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