Human Genome: Its Time to Challenge

Human body…It would still not be enough how much more adjectives that I add to define it as a complex,involuted,intricate,tangled,serpentine, knotly and a multiplex system! Learning about life is actually a Herculean task but many legends for whom sky was never the limit, got answers to their questions. So to begin with, understanding the human body at the cellular level began in the 1600s,when a natural philosopher, polymath and even an architect, who was none other than Dr. Robert Hook, who, through his compound microscope discovered “the small room” and gave the name as “the cell” to it. With the advent of electron microscopy,serving as a major breakthrough, it revolutionized the field of biology. To learn what lies inside the cell was no longer a mystery as all the microdetails of the cell organelles was thus obtained. Another “Robert” in the history was honoured with the discovery of the chief organelle called “;the nucleus”. He was none other than Dr. Robert Brown. Being the largest organelle, it involves just the 10% of the cell but it’s role in the cell is however just like the human brain is to the entire human body. It took no time to penetrate even the nucleus that hiked the discovery of the hereditary material which was the quantum leap in biological science. Then a series of several discoveries by the great men lead to the unearthing of “the gene” and the DNA is the carrier material was thus stated.

Several extraordinary and substantial men like Sir Gregor Mendel, Hugo de Vries, Avery, MacLeod, McCarthy, Thomas Hunt Morgan, Fischer, Franklin, Wilkins and many such countless and admired names of the time had immensely contributed to this field, the efforts of whom have left a base for further studies and experiments to carry out. The efforts of these men was just like the blooming of flowers in the dry field. There was no haulthere,the study of DNA was progressed way forward. Two prized and nobles names in the history of genetics, James Watson and Francis Crick, together, they worked and studied immensely to decipher the three dimensional structure of the DNA which was found to be a double helix.And, this is with us today, after all this study, here is our genome which the full complement of the DNA from an organism and carries all the information needed to specify the structure and function of every protein that a cell produce.

The Human Genome Project, which was an International effort, was a major breakthrough in the field of biological science. It began in the year 1990 and was completed in the year 2003, thereby taking almost 13 years to reveal that was unknown. Its aim was to map the entire Human Genome, understanding the genes and its functions. It was really a cutting edge in the history and was thereby considered as equivalent as the Apollo Mission to the Moon. It actually revealed the number of genes with their locations and the information about the structure, organization and function of the complete set of genes. And, today, it has posed a big challenge on the upcoming generations to use this science to understand human cellular and molecular process in both disease and health. A big realization that DNA lies behind all the cellular activities led to the advent of molecular biology to understand and describe the complex biological processes that actually occur at the molecular level. A substantial amount of development is being carried out in the technologies and methods for isolating the DNA and manipulating the nucleic acids ; and how could the analysis part be forgotten, it being the most incredible science. Thus to keep pace with the explosion in the molecular biology and the immensely huge data which it provide, it has lead to the progress of the science of bioinformatics. Genetics being the study of hereditity and variations, provides a large amount of database for study and research purposes. Then there is Biotechnology where immense work is being carried out wherein using varies recombinant technologies, several drugs are synthesized along with it’s trials and modifications. Biomedical engineering, biomanufacturing, molecular engineering are some of the branches of biotechnology for more simplified procedures and work distribution. Thus all these fields working together is thereby paving a way towards development. But truly a big challenge it is to deal with it! Efforts are being made to modify the living organisms. Today we have knowledge about certain genes along with their perfect location and those which are responsible for a particular disease. Prenatal diagnosis of several syndromes and diseases are possible using the chorionic villi sample or the amniotic fluid by carrying out procedures like sequencing, microarray, MLPAetc. Karyotyping is used to detect deletions, duplications or translocations on chromosomes. These procedures are the part of modern science. We are able to see the chromosomes and detect their abnormalities, sequencing helps to amplify the DNA segment of interest to detect the defective part of the gene. Although these procedures are restricted to the diagnostic level, we are able to abort the abnormal fetus with any genetic disorder, followed by genetic counselling to the parents for understanding of the genetic disorders in the context of cultural, personal and familial situations.These procedures are the product of the work immensely done by those great men.A synthetic chromosome was prepared in the year 2010 whose genome was entirely designed by the computer, although the capability to edit genome was in practice since decades. Even genetic engineering is a common practice in laboratories. Fascinating and extremely high level technologies in practice today are “CRISPER CAS-9”, “zinc finger nucleases”, TALENS which have completely revolutionized the field of molecular biology 

The application of these tools in day to day basis is a big challenge.CRISPER technology is basically used to effectively and specifically change the genes within an organism, today it is restricted to just the prokaryotes but that day is not far when humans after subjecting to it will get their genome corrected or altered. Cancer treatment using CRISPER, wherein the edited immune cells have been transferred into the body are being tried. We are at the earliest stages of understanding the human genome. Cancer risk is currently one of the most useful areas of genome analysis but being at the very beginnings, this genome data can just be used for life prediction in present scenario.We are even using “machine learning” tools to co relate the data with genome sequence to discover the precise genetic cause of the disease. Genome editing is routinely done in crop production to produce diverse breeds which are better in both quality and quantity; however a distinct line is drawn when the question for human germ line comes into the picture. The germ line genome editing is a however a very fascinating area of research which would be, in future, readily dealt to eliminate certain diseases or any harmful or unwanted traits completely from the human line. At this stage it is seeming almost impossible to get the corrected gene into the desired cell among the millions of the human cell, thereby paving a big challenge for gene therapy; but in relation to that, the cells treated outside the body and then inserted have a good effect. Genome editing can become a legitimate part of future that will be more accurate, will give a better diagnosis, treatment and prognosis. The ultimate is the caution in the adaption of these technologies. The prime concern of the hour is to know and understand the safety and consequences of using these technologies for human application. Adoption of these technologies together with legal and ethical issues needs to be thoroughly discussed and studied. I truly believe in this perfect saying “We need to ask questions until we get answers to it and once we get the answers to it , the questions itself are changed”. This exactly is the scenario of science today. Every new day brings a new question with a new challenge and this exactly is the process of how science progresses. The day is not far when diseases like diabetes, hypertension and other cardiovascular abnormalities, several neurological diseases including the Alzhimer’s disease, several skin diseases, auto immune diseases, rare and serious syndromes and deathly pathologies will be dealt at the genetic level and diseases like cancer and AIDS will be completely cured. These genes which determine the hereditary; to say they determine the past, they will now be used to reshape and design the future and maintain the present as well. And the picture is totally clear in front of us. The 20 th century has deciphered the genome and gifted the world with an immeasurable information. The 21 st century has definitely accepted the challenge and is moving forward with high speed creating many such wonders thus making the human life easy and disease free by reaching at the genetic level.

Lastly I would like to place the quote here “what we know today is surely considerable but it is cloaked by what we still have to learn and that exactly is the challenge!”

Dr. Shruti Pande

(BDS, Intern)