The fight against human genetic diseases was finally realised through the revolutionary completion of the Human Genome Project on April 14, 2003 after 13 years beating their estimated timeline by two years. It began on October 1, 1990 as a 15 year project to find out all the genes, collectively called the genome present in the species Homo sapiens. Considered as one of the most ambitious project ever taken up by the scientific community, it has achieved the accuracy of 99.99% in sequencing 3 billion DNA base. The project was first articulated by the U.S National Academy of Sciences in 1988. The research was led by an international team who looked into the sequence and mapped every gene in the human body. Funded by Congress, the plan was jointly chalked down by the National Institute of Health and Department of Energy.
The researchers unravelled the mystery of what’s inside our body by sequencing the order of all the three billion codons present in our DNA by making detailed maps of every location of the gene for all our chromosomes and producing ‘linkage maps’ through which genetic disorders can be tracked down easily. The Human Genome Project has discovered that there are about 20,500 human genes. This detailed result of the HGP has given the medical world priceless information on the structure, functions and organization of the human genes.
Structure of DNA
Source: Encyclopaedia Britannica. Inc www.britannica.com/event/Human-Genome-Project
The project undertaken by the scientific community of 2800 researchers cost billions of dollars and a time period of thirteen years. The successful completion of the project was a milestone that induced new areas of medical research and created numerous tools for treating and diagnosing genetic disorders. The impact of the Human Genome Project was humungous. Some of the breakthrough results of the project include therapies to certain forms of blindness, treating cystic fibrosis etc. It also helped to find out treatments to colon cancer, prenatal testing and preconception carrier screening. Thanks to HGP, genetic tests can now be conducted to predict the effectiveness of breast-cancer chemotherapy.
A timeline of the Human Genome Project showing its achievements.
Source: Darryl Leja, NHGRI www.genome.gov/image-gallery
Without the strong and effective participation of several international institutions and committees, the project would not have been completed so easily. Contributors in the United States of America include the National Institutes of Health who began participating as early as 1988. NIH created the National Centre for Human Genome Research in 1990 which was later upgraded to National Human Genome Research Institute (NHGRI) in 1997. Other contributors include the U.S Department of Energy who began discussing the Human Genome Project in 1984. Even though the contributing institutions were mostly from USA, the experiments were conducted in various universities and research centres in USA, Japan, China, Germany, France.
The launch of the Human Genome Project at the Cold Spring Harbor Laboratory in New York.
Source: Nature. www.nature.com/news/human-genome-project-twenty-five-years-of-big-biology-1.18436
The human genome sequence is like a manual to the human body. The work of the researchers is now to read the manual minutely and understand how the body operates and understand better how human health function based on their genetic build-up. By studying the genes, the scientists can make out the genes that are critical for life. It has led to the undertaking of projects related to the genome such as the HapMap Project in 2005 to study the variations in the human genome and to find out the elements in the DNA i.e ENCODE (Encyclopaedia of DNA Elements). HGP was followed by another project called Cancer Genome Atlas where the genetic abnormalities that lead to cancer would be mapped. This specified the exact locations where the genomes differ and as a result allowed artificial sequencing in cases of high variations. This prevented and led to the discovery of various improved treatments and diagnosis for various genetic disorders.
The tools used for mapping the human genome also helped to sequence the genomes of many other organisms that are significant in the field of biological research. Some of these organisms include mice, flatworms and flies. Most of these organisms have homologous or similar genes and therefore the identification of one gene model in a specific organism could possibly explain a gene pattern in human beings.
A DNA sequencing lab in 1994
Source: Nature. www.nature.com/news/human-genome-project-twenty-five-years-of-big-biology-1.18436
Director of the National Human Genome Research Institute, Francis Collins in February 2001 observed that a genome is like a book that can be used for multiple purposes. Soon after the completion of the HGP, scientists, physicians and researchers of biomedical technology ensured the rapid application of the advanced methods of the information derived from the extensive project for the benefit of the human race. The entire genome sequence compiled by the HGP has been made public and new results from on-going experiments and projects are posted and published in scientific journals which are freely accessible to the scientific community. The Supreme Court in 2013 declared that human genes have not been invented; they were discovered and therefore cannot be patented. However synthetic genes that have been highly altered from their natural form have come to be patented by private companies.
The Human Genome Project also addressed a lot of social and ethical problems related to the accessibility and acquisition of the genomic information before researchers could apply the knowledge in scientific and medical experiments so that the benefits and risks associated to it are balanced. The initiative was taken because the entire project had a profound impact on people. Therefore to oversee research in these areas, The Ethical, Legal and Social Implications (ELSI) program was founded. The US Congress fixed 5% of the budget of National Human Genome Research Institute (NHGRI) to look over the ethical, legal and social aspect of the genomic research. It also recommended solution regarding policies from time to time and held discussions. ELSI provides a constructive and effective base which helps in assessing the on-going researches. ELSI looks after the privacy policies and fair use of genetic information including the process of informed consent. It also educates the students, policy makers, healthcare professionals about issues that come up from genomic research. It focuses on the introduction of new genetic technologies like genetic testing into the field of clinical medicine.
The Human Genome Project sent ripples not just across the scientific community but across the entire human race as well. With advanced therapies and treatments, it renewed the lives of millions of people. Who, in 1990 knew that in thirteen years the world would change forever?
References
Chial, H. DNA Sequencing Technologies Key to the Human Genome Project. Nature Education, vol. 1, no. 1, pp-219. 2008. www.nature.com/scitable/topicpage/dna-sequencing-technologies-key-to-the-human-828/ Accessed on January 23 2020.
Rietveld, Leslie. “This Day in Science June 26, 2006- First DNA sequence released by Human Genome Project”. StressMarg Biosciences.Inc. www.stressmarq.com/june-26-2000-dna-sequence-released-by-human-genome-project/?v=c86ee0d9d7ed. Accessed on January 24 2020.
Green, Eric D, James D. Watson and Francis Collins. Human Genome Project. Nature. vol. 526, no. 7571, 2015. www.nature.com/news/human-genome-project-twenty-five-years-of-big-biology-1.18436. Accessed on January 24 2020.
L, Judith and Fridovich Keil. Human Genome Project. Encyclopaedia Britannica. Inc. 2018. www.britannica.com/event/Human-Genome-Project Accessed on January 25 2020.
