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Year : 2001  |  Volume : 49  |  Issue : 1  |  Page : 3

Unwrapping the human genome

Centre for Cellular and Molecular Biology, Uppal Road, Hyderabad - 500 034, India

Correspondence Address:
Mohan Rao
Centre for Cellular and Molecular Biology, Uppal Road, Hyderabad - 500 034, India

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Source of Support: None, Conflict of Interest: None

PMID: 15887708

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How to cite this article:
Rao M. Unwrapping the human genome. Indian J Ophthalmol 2001;49:3

How to cite this URL:
Rao M. Unwrapping the human genome. Indian J Ophthalmol [serial online] 2001 [cited 2023 Dec 2];49:3. Available from: https://journals.lww.com/ijo/pages/default.aspx/text.asp?2001/49/1/3/22706

The announcement of draft of the human genome on the 26th June 2000 is considered as one of the major developments in science. Genomes of several organisms were determined earlier. The importance of human genome project is largely due to its magnitude. Now we know that there are 3.15 billion nucleotides in the human genome. This data, if printed, will require about 200 volumes of 1000 pages each. Another way of appreciating its magnitude is to estimate the time required to read the sequence. If one can read out 10 nucleotides per second, reading aloud the entire human genome, without stopping, will take 9.5 years. Sequencing this enormous genomic material is made possible by the combined efforts of several countries, a major technological achievement of the last century. Scientific and medical benefits of this endeavor will surely require more time to realize. What we have, as the media called it, is a book of life. Reading this book is difficult because there are no capital letters, no spaces between words and no punctuation marks. Imagine reading such a book and finding out the causes for diseases and identifying the drugs for treatment!

Making use of the human genome information requires a combination of several disciplines. Once genes for the diseases are identified, we may start looking at possible benefits arising out of this information. Parallel to the sequencing efforts, newer ways of investigating cellular genome and expression patterns such as DNA and protein chips have emerged. Together, these new tools and information are changing the way science is being done. Eye research is no exception. Hypothesis-based science is slowly getting replaced with massive screening that is made possible by gene array and protein chips

It is estimated that the number of genes in human genome may be anywhere between 30,000 and 75,000. Recent publications set this number at 30,000. It is rather surprising that just 30,000 genes can build and manage such complex system as human being. It is likely that alternate splicing plays a major role in producing a larger number of proteins with a limited set of genes. In addition, each protein might have more than one function. Thus the "Proteomics" and "Transcriptomics" should prove more useful. It is estimated that there are about 7000 to 10000 inherited diseases. Of these, there may be approximately 1000 inherited eye diseases affecting cornea, iris, lens, vitreous and retina. One of the major gene hunts has been to deal with retinitis pigmentosa. Gene and allele identification along with fast sequencing technologies may help identify pre-disposed population. This identification should be of immense use in planning strategies to contain the disease. Cataract, one of the major problems leading to visual impairment, is an age-onset disease. Identification of genes that are involved in defense mechanisms and their regulation may prove useful not only in arresting the progression of cataract but also other ocular complications. In addition to this, cataract has genetic origin as well. There are at least 15 known genes that are associated with congenital cataract.

Human genome research has now occupied a centre stage in modern biological and biomedical research. Funding agencies are earmarking major share of their resources for genome research. This, along with allied techniques that are being developed will lead to genomic approaches in almost every line of investigation including eye research.

However, we must exercise caution not to be submerged in the "buckyball effect". While exploiting the novel approaches we must not lose sight of established ongoing investigations. Availability of human genome sequence data should be used to facilitate discovery process.


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