A. 1,000 Genomes Project
• Launched in January 2008 with the goal of developing a comprehensive resource of human genetic variation across worldwide populations.
• It was an international research effort to establish by far the most detailed catalogue of human genetic variation.
• Scientists planned to sequence the genomes of at least one thousand anonymous participants from a number of different ethnic groups.
• It was the first project to sequence the genomes of a large number of people, to provide a comprehensive resource on human genetic variation.
• This resource will aid about understanding of the role of genetic variation in human history, evolution and disease
There are two kinds of genetic variants related to disease.
(a) Rare genetic variants that have a severe effect predominantly on simple traits (e.g. Cystic fibrosis, Huntington disease).
(b) More common, genetic variants have a mild effect and are thought to be implicated in complex traits (e.g. Cognition, Diabetes, and Heart Disease).
• Between these two types of genetic variants lies a significant gap of knowledge, which the 1000 Genomes Project is designed to address.
Data from the 1000 Genomes Project was quickly made available to the worldwide scientific community through freely accessible public databases.
B. International HapMap Project
• The International HapMap Project was an organization that aimed to develop a haplotype map (HapMap) of the human genome.
• HapMap is used to find genetic variants affecting health, disease and responses to drugs and environmental factors.
• The information produced by the project is made freely available for research.
• The International HapMap Project is collaboration among researchers at academic centers, non-profit biomedical research groups and private companies in Canada, China, Japan, Nigeria, the United Kingdom, and the United States.
• It officially started with a meeting on October 27 to 29, 2002.
• To determine the common patterns of DNA sequence variation in the human genome and to make this information freely available in the public domain.
• The HapMap will allow the discovery of sequence variants that affect common disease, will facilitate development of diagnostic tools, and will enhance our ability to choose targets for therapeutic intervention.
• The DNA sequence of any two people is 99.5 percent identical. The variations, however, may greatly affect an individual’s disease risk.
• Sites in the DNA sequence where individuals differ at a single DNA base are called single nucleotide polymorphisms (SNPs). Sets of nearby SNPs on the same chromosome are inherited in blocks. This pattern of SNPs on a block is a haplotype.
• Blocks may contain a large number of SNPs, but a few SNPs are enough to uniquely identify the haplotypes in a block. The HapMap is a map of these haplotype blocks and the specific SNPs that identify the haplotypes are called tag SNPs.
• The HapMap is valuable by reducing the number of SNPs required to examine the entire genome for association with a phenotype from the 10 million SNPs that exist to roughly 500,000 tag SNPs.
• This makes genome scan approaches to finding regions with genes that affect diseases much more efficient and comprehensive, since effort is not wasted typing more SNPs than necessary and all regions of the genome can be included.
• Use in studying genetic associations with disease.
• A powerful resource for studying the genetic factors contributing to variation in response to environmental factors, in susceptibility to infection, and in the effectiveness of and adverse responses to drugs and vaccines.
• Using just the tag SNPs, researchers are able to find chromosome regions that have different haplotype distributions in the two groups of people, those with a disease or response and those without.
• Each region is then studied in more detail to discover which variants in which genes in the region contribute to the disease or response, leading to more effective interventions.
• This also allows the development of tests to predict which drugs or vaccines would be most effective in individuals with particular genotypes for genes affecting drug metabolism.
C. Human Genome Project
• The “genome” of any given individual is unique; mapping the “human genome” involved sequencing a small number of individuals and then assembling these together to get a complete sequence for each chromosome. The finished human genome is thus a mosaic, not representing any one individual.
• The Human Genome Project (HGP) was an international scientific research project.
• Funding came from the US government through the National Institutes of Health (NIH) as well as numerous other groups from around the world.
• It remains the world’s largest collaborative biological project.
• Determining the sequence of nucleotide base pairs that make up human DNA, and of identifying and mapping all of the genes of the human genome from both a physical and a functional standpoint.
• From the start, the Human Genome Project supported an Ethical, Legal and Social Implications research program to address the many complex issues that might arise from this science.
• It can help us understand diseases including: genotyping of specific viruses to direct appropriate treatment.
• Identification of mutations linked to different forms of cancer.
• The design of medication and more accurate prediction of their effects.
• Advancement in forensic applied sciences.
• Biofuels and other energy applications.
• Agriculture, animal husbandry, bioprocessing; risk assessment; bioarcheology, anthropology and evolution.
• Commercial development of genomics research related to DNA based products, a multibillion-dollar industry.
As a result of the Human Genome Project, today’s researchers can find a gene suspected of causing an inherited disease in a matter of days, rather than the years it took before the genome sequence was in hand.
(a) DNA Sequencing.
(b) The Employment of Restriction Fragment-Length Polymorphisms (RFLP).
(c) Yeast Artificial Chromosomes (YAC).
(d) Bacterial Artificial Chromosomes (BAC).
(e) The Polymerase Chain Reaction (PCR).
D. Frozen Ark Project
• A British-led project called “Frozen Ark” is preserving the DNA of endangered species before they disappear.
• It is a charitable frozen zoo project created jointly by the Zoological Society of London, the Natural History Museum and University of Nottingham.
• The project aims to preserve the DNA and living cells of endangered species to retain the genetic knowledge for the future.
• The Frozen Ark collects and stores samples taken from animals in zoos and those threatened with extinction in the wild, with the expectation that, some day, cloning technologies will have matured sufficiently to resurrect extinct species.
• The Frozen Ark was a finalist for the Saatchi & Saatchi Award for World Changing Ideas in 2006.
• To collect, preserve and store tissue, gametes, viable cells and DNA from endangered animals for use both in conservation programmes and to enable society to benefit itself and all life on earth. The project focuses on the thousands of animals that are threatened with extinction.
• To support the establishment of genome resource banks of endangered animals in many countries, to establish a database listing where genetic materials are stored worldwide and identifying which species are most in need of sampling.
What happens with the material collected by The Frozen Ark Project?
• Much of The Frozen Ark sample collection of frozen material is being preserved in -80oC freezers.
• Cultured mammalian cells, tissue and gametes are being prepared and stored in liquid nitrogen.
• Other preservation methods for the long term are ultra-low freezing in pure ethanol, as dried samples on Whatman paper and as freeze dried samples. These methods are useful for countries having unreliable supplies of electricity.
• The DNA contained in cells and tissues is very stable when it is stored at a cold enough temperature. DNA can be copied quickly and easily, extracted from just a few cells and amplified millions of times in just a few hours.
E. Biotechnology Park of Women
• Initiative by the Department of Biotechnology.
• Biotechnology Park for Women, the first of its kind in India, at Kelambakkam, 41 kms south of Chennai.
• This scheme seeks to use biotechnology for the uplift of rural women with opportunities for their own ventures.
• The scheme is a collaboration of the Department of Biotechnology, M.S. Swaminathan Research Foundation (MSSRF) and the Tamilnadu Industrial Development Corporation (TIDCO).
• The project, launched to commemorate the 50th anniversary of India’s Independence.
• It will be developed by TIDCO and managed by a society under the chairmanship of eminent agricultural scientist and architect of India’s Green Revolution, Dr. M.S. Swaminathan.
• It will be managed by professionals with active stakeholder participation.
• It will also serve as a training centre and would promote regional economic development.
• It will facilitate cooperation among women entrepreneurs and the corporate sector for joint marketing strategies.
• “to provide opportunities for professionally qualified women to take to a career of remunerative self-employment through the organization of environment friendly biotechnological enterprises.”
• The main objectives of this Park are to act as a platform for bringing together women entrepreneurs, scientists, financial institutions and industry.
• The Park aims at developing an integrated approach involving technology identification, incubation, dissemination, training and retraining, development of necessary techno-infrastructure through feasibility studies using the criteria of value addition and market demand.
• It will generate skilled employment opportunities among women.
• The highest standards of environmental management will be adhered to in accordance with the United Nations Conference on Environment and Development (UNCED) dealing with environmentally-sound management of biotechnology.
• Application of proven biotechnologies as also commercialization of these technologies would be the priority.
• The design of the Park will be based on the principle of decentralised production supported by appropriate centralised services to promote a series of high-tech biotechnology -based enterprises.
• These would aim at capturing a number of niche markets in the areas of ag-biotech, food biotech and medical biotech.
• When fully developed, this Park will consist of industrial incubation centres, ultra -modern multimedia information complex and quality verification reference laboratories.
• The R&D institutions, the corporate sector and the financial institutions would assist the women entrepreneurs in achieving the objectives of the Park.
• The Park will serve as a model to foster the technological and economic empowerment of women.
BT Parks set up in India:
(a) Uttar Pradesh: Lucknow BT Park
(b) Andhra Pradesh: Hyderabad BT Park
(c) Assam: Guwahati Biotech Park
(d) Karnataka: Bangalore Biotech Park
(e) Kerala: KINFRA Biotech Park
(f) Odisha: Bio Pharma-IT Park, Bhubaneswar
F. Decoding the Wheat Genome
• The International Wheat Genome Sequencing Consortium (IWGSC) is a non-profit organisation established in 2005 by a group of wheat growers, plant scientists and breeders from 55 countries.
• The IWGSC to which India is a partner published the international journal Science a draft sequence of the bread wheat genome.
• The goal of the IWGSC is to make a high quality genome sequence of bread wheat publicly available, in order to lay a foundation for basic research that will enable breeders to develop improved varieties.
• India has contributed in developing the draft sequence of the bread wheat genome.
• Wheat has largest content of DNA among all the food crops.
• Decoding genome sequence of wheat can help in developing climate smart wheat.
• Largest genome to be sequenced to-date – raising the prospects of bigger and faster disease-resistant crops to meet the looming global food shortage.
• The plant is among the world’s most important crops and the researchers say the information could help farmers create disease-resistant strains of the global food staple.
• A complete and accurate description of the wheat genome will allow for the quick identification of critical genes that code for everything from drought resistance to stress resistance.
• Breeders can make sure these genes are in their breeding populations and this will help them improve their productivity.
• It will help in identifying genetic characteristics which can boost crop productivity and allow farming in difficult environments.
• This genomics resource has made thousands of markers available to wheat researchers which will facilitate mapping and cloning of genes of agronomic importance in much lesser time and cheaper cost than was available earlier.
• Decoding wheat genome will facilitate our understanding of gene function which will enable develop new genetic gains of wheat. Taking forward with molecular breeding and genetic engineering we would be able to develop climate smart wheat (drought/terminal heat tolerance) with higher yield.
G. U.K. grants gene editing licence
• U.K. has granted its first licence to genetically modify human embryos for research into infertility and why miscarriages happen.
• The decision makes Britain one of the first countries in the world to grant this type of authorisation for experimentation on human embryos, although similar research has been carried out in China.
• This decision is however, likely to raise ethical concerns. It has also been criticised on the pretext that it will be employed to develop designer babies. However, the scientists have said that the purpose of gene editing is not to develop designer babies.
• This is a technique that allows the scientist to edit the gene sequence and then modify it in order to bring the desired changes. It helps to understand the sequence of genes and then use gene editing to cure incurable diseases like Tay-Sachs and perhaps cystic fibrosis through the modification of genes.
• In addition to that, gene editing can be used as a research tool to simply learn more about these diseases.
H. GM Mustard Issue
DMH-11 is a Genetically Modified (GM) mustard hybrid. Hybrids are normally obtained by crossing 2 genetically diverse plants from the same species. The 1st-generation offspring resulting from it has higher yields than what either of the parents is individually capable of giving. But there is no natural hybridization system in mustard, unlike in, say, cotton, maize or tomato. This is because its flowers contain both the female (pistil) and male (stamen) reproductive organs, making the plant naturally self-pollinating.
What scientist has done is to create a viable hybridization system in mustard using GM technology. The resulting GM mustard hybrid, it is claimed, gives 25-30% more yield than the best varieties such as ‘Varuna’ currently grown in the country.
Scientists at the Centre for Genetic Manipulation of Crop Plants (CGMCP) in Delhi University, however, showed that this problem could be addressed by crossing Indian mustard cultivars with juncea lines of East European origin like ‘Early Heera’ and ‘Donskaja’. The combination of the 2 divergent gene pools enhanced the crossing options; the resultant F1 progeny were found to exhibit significant heterosis.
What is a controversy about GM Mustard?
• Many scientist claim that at a time when sustainable farming and low-input agriculture are becoming the buzzwords, it is surprising that agricultural scientists continue to recommend crop varieties that will end up doing more harm to the environment and crop fields. GM mustard will require almost double the quantity of fertiliser and water.
• Other Health concerns of GM Hybrid Mazie include: allergenicity; gene transfer, especially of antibiotic-resistant genes, from GM foods to cells or bacteria in the gastrointestinal tract; and `out crossing’, or the movement of genes from GM plants to conventional crops, posing indirect threats to food safety and security.
• GM mustard can affect honeybees directly and indirectly through effecting flowering and pollen production. Protease inhibitors have proved detrimental to the longevity and behaviour of bees.
• Regulatory weakness-The Genetic Engineering Approval Committee, which is responsible for approving large-scale releases and commercialisation of GMOs, functions under the Ministry of Environment and Forests and is not entirely independent.
• The case of the Review Committee on Genetic Manipulation that supervises and clears research activities and also small-scale field trials is even starker. It is part of the Department of Biotechnology, whose primary task is to promote biotechnology. DBT therefore is the promoter as well as the regulator. On several occasions, developers of transgenic crops have also been members of regulatory committees
In a current environment where climatic change would have negative effects on yield of many major crops which could seriously undermine food security, GM crops are the way forward. However at the same time to convince the opponents of GM crops to allow commercialization of GM crops we need a strong regulatory framework. What is therefore needed is an independent biotechnology regulatory authority, a single organization that will replace the multiple committees – at least six – that are part of the current regulatory structure. This authority would deal with the use of all GMOs in agriculture, pharmaceutical and biodiversity sector.
I. Genetically Modified Mosquito
• A genetically modified insect is an insect that has been genetically modified for various reasons such as agricultural production, oil production and pest control.
• Scientists have moved on from using bed nets and insecticides to kill malaria-spreading mosquitoes, to genetically modify the mosquitoes by inserting a gene that leads to the production of male offsprings.
• Since only females carry the malaria-causing microorganism, the spread of the disease is controlled in the short-term while eventually the whole population gets wiped out.
• Scientists injected a gene from a slime mould into the mosquito which attached itself to the X chromosome during sperm-making process effectively masking the sperms leading to production of male offsprings.
The British company Oxitec use a technique called Release of Insects with Dominant Lethality (RIDL), that can produce fertile male adults that induce a high mortality of the descendants. The adults generated with this technique and released in the environment are not sterile but their descendants have a survival rate of 0% . This lethality can be switched off by introducing the antibotic, tetracycline, into their diet.
There are concerns about using tetracycline on a routine basis for controlling the expression of lethal genes. There are plausible routes for resistance genes to develop in the bacteria within the guts of GM-insects fed on tetracycline and from there, to circulate widely in the environment.
Recent Implementation (Brazil)
• In January 2016 it was announced that in response to the Zika virus outbreak, Brazil’s National Biosafety Committee approved the releases of more genetically modified Aedes aegypti mosquitos throughout their country.
• Previously in July 2015, Oxitec released results of a test in the Juazeiro region of Brazil, of so-called “self-limiting” mosquitoes, to fight dengue, Chikungunya and Zika viruses.
• They concluded that mosquito populations were reduced by about 95%
J. Designer babies’ or Three parents babies
• A number of children each year are born with faults in their mitochondrial DNA which can cause diseases. Due to it the parts of the body that need most energy are worst affected: the brain, muscles, heart and liver. Faulty mitochondria have also been linked to more common medical problems, including Parkinson’s, deafness, failing eyesight, epilepsy and diabetes. Thus Three-parent babies mechanism has been evolved to decrease the number of children born with diseases.
• Three-parent babies are human offspring with three genetic parents. The procedure replaces a small amount of faulty DNA in a mother’s egg with healthy DNA from a second woman, so that the baby would inherit genes from two mothers and one father. The procedure is intended to prevent mitochondrial diseases including diabetes mellitus and deafness and some heart and liver conditions.
• The mitochondrial replacement technique has, unsurprisingly, raised objections and ethical considerations. These are as follows:
1) It raises concerns of bioethics because it creates genetic links between the offspring and three parents, as the child’s DNA consists of the genetic material of three people.
2) The method used for this purpose constitutes inheritable germ-line genetic modification. This means that it is not just the offspring’s DNA that is modified, but also the DNA of the generations to follow.
3) Mitochondrial transfer passes on genetic changes from one generation to another. That raises ethical concerns because any unexpected problems caused by the procedure could affect people who are not yet born, and so cannot give their consent to have the treatment. Mitochondria are not completely understood, and the DNA they hold might affect people’s traits in unknown ways. For that reason, some scientists believe mitochondria should be better understood before the procedures are legalized.
4) The Catholic Church opposes one form of mitochondrial transfer, called pronuclear transfer, because a fertilized egg from the mother is destroyed in the process. Catholic ethicists have also complained that mitochondrial transfer introduces a “rupture” between mother and father and “dilutes parenthood”.
5) Implications for identity are another ethical concern that has psychological and emotional impacts on a child’s life regarding of a person’s sense of identity. It debates whether the genetic make-up of children born as a result of mitochondrial replacement affect their emotional well-being when they are aware that they are different from other healthy children conceived from two parents.
Pros of Designer babies
a. Reduces risk of genetic diseases.
b. Reduces risk of inherited medical conditions.
c. Better chance the child will succeed in life.
d. Better understanding of genetics.
e. Increased life span.
f. It can give, the child genes that the parents do not carry.
g. Prevent next generation of family from getting characteristics/diseases.
Cons of Designer Babies
a. Termination of embryos.
b. Could create a gap in society
c. Possibility of damage to the gene pool.
d. Baby has no choice in the matter.
e. Genes often have more than one use.
f. Geneticists are not perfect.
g. Loss of Individuality.
h. Other children in family could be affected by parent’s decision.
i. Only the rich can afford it.
Additional Read [Must]