Essay !5 - Genome Project Code: KSI0005

Human Genome Project

Sangin Kim

The Human Genome Project (HGP) was an international scientific research project with the goal of 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. It remains the world's largest collaborative biological project. After the idea was picked up in 1984 by the US government when the planning started, the project formally launched in 1990 and was declared complete in 2003.

The process of identifying the boundaries between genes and other features in a raw DNA sequence is called genome annotation and is in the domain of bioinformatics. While expert biologists make the best annotators, their work proceeds slowly, and computer programs are increasingly used to meet the high-throughput demands of genome sequencing projects. Beginning in 2008, a new technology known as RNA-seq28 was introduced that allowed scientists to directly sequence the messenger RNA in cells. This replaced previous methods of annotation, which relied on inherent properties of the DNA sequence, with direct measurement, which was much more accurate. Today, annotation of the human genome and other genomes relies primarily on deep sequencing of the transcripts in every human tissue using RNA-seq. These experiments have revealed that over 90% of genes contain at least one and usually several alternative splice variants, in which the exons are combined in different ways to produce 2 or more gene products from the same locus.

The genome published by the HGP does not represent the sequence of every individual's genome. It is the combined mosaic of a small number of anonymous donors, all of European origin. The HGP genome is a scaffold for future work in identifying differences among individuals. Subsequent projects sequenced the genomes of multiple distinct ethnic groups, though as of today there is still only one "reference genome."

There are approximately 22,300 protein-coding genes in human beings, the same range as in other mammals.
The human genome has significantly more segmental duplications (nearly identical, repeated sections of DNA) than had been previously suspected.
At the time when the draft sequence was published fewer than 7% of protein families appeared to be vertebrate specific.

Ethical, legal and social issues are exist.

At the onset of the Human Genome Project several ethical, legal, and social concerns were raised in regards to how increased knowledge of the human genome could be used to discriminate against people. One of the main concerns of most individuals was the fear that both employers and health insurance companies would refuse to hire individuals or refuse to provide insurance to people because of a health concern indicated by someone's genes.

Along with identifying all of the approximately 20,000–25,000 genes in the human genome, the Human Genome Project also sought to address the ethical, legal, and social issues that were created by the onset of the project. For that the Ethical, Legal, and Social Implications (ELSI) program was founded in 1990. Five percent of the annual budget was allocated to address the ELSI arising from the project. This budget started at approximately $1.57 million in the year 1990, but increased to approximately $18 million in the year 2014.

Whilst the project may offer significant benefits to medicine and scientific research, some authors have emphasised the need to address the potential social consequences of mapping the human genome. "Molecularising disease and their possible cure will have a profound impact on what patients expect from medical help and the new generation of doctors' perception of illness."

An Overview of the Human Genome Project

What was the Human Genome Project?

The Human Genome Project (HGP) was the international, collaborative research program whose goal was the complete mapping and understanding of all the genes of human beings. All our genes together are known as our "genome."

The HGP was the natural culmination of the history of genetics research. In 1911, Alfred Sturtevant, then an undergraduate researcher in the laboratory of Thomas Hunt Morgan, realized that he could - and had to, in order to manage his data - map the locations of the fruit fly (Drosophila melanogaster) genes whose mutations the Morgan laboratory was tracking over generations. Sturtevant's very first gene map can be likened to the Wright brothers' first flight at Kitty Hawk. In turn, the Human Genome Project can be compared to the Apollo program bringing humanity to the moon.

The hereditary material of all multi-cellular organisms is the famous double helix of deoxyribonucleic acid (DNA), which contains all of our genes. DNA, in turn, is made up of four chemical bases, pairs of which form the "rungs" of the twisted, ladder-shaped DNA molecules. All genes are made up of stretches of these four bases, arranged in different ways and in different lengths. HGP researchers have deciphered the human genome in three major ways: determining the order, or "sequence," of all the bases in our genome's DNA; making maps that show the locations of genes for major sections of all our chromosomes; and producing what are called linkage maps, complex versions of the type originated in early Drosophila research, through which inherited traits (such as those for genetic disease) can be tracked over generations.

The HGP has revealed that there are probably about 20,500 human genes. The completed human sequence can now identify their locations. This ultimate product of the HGP has given the world a resource of detailed information about the structure, organization and function of the complete set of human genes. This information can be thought of as the basic set of inheritable "instructions" for the development and function of a human being.

The International Human Genome Sequencing Consortium published the first draft of the human genome in the journal Nature in February 2001 with the sequence of the entire genome's three billion base pairs some 90 percent complete. A startling finding of this first draft was that the number of human genes appeared to be significantly fewer than previous estimates, which ranged from 50,000 genes to as many as 140,000.The full sequence was completed and published in April 2003.

Upon publication of the majority of the genome in February 2001, Francis Collins, the director of NHGRI, noted that the genome could be thought of in terms of a book with multiple uses: "It's a history book - a narrative of the journey of our species through time. It's a shop manual, with an incredibly detailed blueprint for building every human cell. And it's a transformative textbook of medicine, with insights that will give health care providers immense new powers to treat, prevent and cure disease."

The tools created through the HGP also continue to inform efforts to characterize the entire genomes of several other organisms used extensively in biological research, such as mice, fruit flies and flatworms. These efforts support each other, because most organisms have many similar, or "homologous," genes with similar functions. Therefore, the identification of the sequence or function of a gene in a model organism, for example, the roundworm C. elegans, has the potential to explain a homologous gene in human beings, or in one of the other model organisms. These ambitious goals required and will continue to demand a variety of new technologies that have made it possible to relatively rapidly construct a first draft of the human genome and to continue to refine that draft. These techniques include:

Of course, information is only as good as the ability to use it. Therefore, advanced methods for widely disseminating the information generated by the HGP to scientists, physicians and others, is necessary in order to ensure the most rapid application of research results for the benefit of humanity. Biomedical technology and research are particular beneficiaries of the HGP.

However, the momentous implications for individuals and society for possessing the detailed genetic information made possible by the HGP were recognized from the outset. Another major component of the HGP - and an ongoing component of NHGRI - is therefore devoted to the analysis of the ethical, legal and social implications (ELSI) of our newfound genetic knowledge, and the subsequent development of policy options for public consideration.

About Ulsan genome project _ KOR version

울산 만명 게놈 프로젝트’ 선언식 25일 UNIST에서 개최
울산시민 1만명 대상 게놈 분석 후 한국인 전체로 프로젝트 확대

“미지의 신대륙을 발견한 콜럼버스의 마음으로 ‘울산 만명 게놈 프로젝트’ 출범을 선언합니다”

국민 게놈 프로젝트가 울산에서 시작됐다. 한국인의 유전자 지도가 울산에서부터 그려져 한국인의 무병장수. 웰 에이징(Well-Aging) 시대가 열리게 됐다.

UNIST(울산과기원, 총장 정무영)와 울산광역시(시장 김기현)는 ‘울산 만명 게놈 프로젝트(Genome Korea In Ulsan)’를 25일(수) 선언했다.

이번 프로젝트는 국내 최대 규모의 한국인 게놈 프로젝트로 울산 시민, 나아가 전 인류의 삶의 질과 행복 수준을 높이기 위한 ‘웰에이징’ 시대를 여는 것이 비전이다.

향후 3년간 울산 시민 1만 명을 대상으로 유전자를 기증받아 게놈을 분석한다. 1호 기증자는 김기현 울산시장이며, 이번 프로젝트는 한국인 전체를 대상으로 하는 ‘게놈 코리아 사업’(가칭)으로 확대된다.

게놈(유전체, Genome)이란 유전자 ‘gene’과 염색체 ‘chromosome’의 합성어로 유전정보의 총합을 의미한다. 프로젝트 연구진은 생명공학 및 의료에 가장 핵심이 되는 개개인의 게놈을 정밀히 해독, 분석하고, 맞춤의료의 원천기술을 개발하는데 필수적인 ‘바이오 빅데이터’를 확보할 계획이다.

‘울산 1만명 게놈 프로젝트’는 게놈을 해독, 분석하는 신기술도 개발한다. 관련 분야의 인재양성은 물론 일자리를 창출하고, 국산화가 2%도 되지 않는 맞춤의료산업분야를 활성화시켜 10년 후, 바이오데이터, 분석기술, 해독장비, 시약까지 역수출하는 것을 목표한다.

이번 프로젝트를 주도하는 박종화 UNIST 게놈연구소 소장은 “게놈 프로젝트가 성공하면 인간생명의 비밀이 베일을 벗어 유전자 조작을 통해 암, 심장병 등 어떤 질병도 치료할 수 있다”며 “울산에서 출범한 이번 프로젝트가 대한민국 생명의료 신산업의 촉발제가 될 것”이라고 자신했다.

프로젝트의 결과물인 방대한 유전정보는 바이오메디컬 관련 기관, 연구소, 기업들에 제공돼 관련 산업 발전에 기여하고, 자발적으로 참여하는 국민에게는 연구 참여의 기회가 제공되고, 건강 유전정보 서비스를 받을 기회 또한 얻게 된다.

게놈 산업은 ‘바이오의 반도체’로 바이오헬스 분야의 핵심 융합산업이다. 게놈을 활용한 맞춤의학에 대한 요구가 세계적으로 증대되고 있는 상황에서 미국, 영국 중국 등은 대형 게놈 프로젝트를 이미 진행 중이다.

김기현 울산시장은 “대한민국의 무병장수와 ‘웰에이징(Well aging)’ 시대가 울산에서부터 열리게 됐다”며 “울산을 동아시아 게놈 산업화의 메카로 만들고 이를 통해 게놈 산업을 울산은 물론 대한민국 창조경제의 미래 성장동력으로 육성할 것”이라고 말했다.

25일(수) UNIST 4층 경동홀에서 열린 이번 선언식에는 UNIST, 울산광역시, 울산대학교, 울산대학교병원간의 ‘울산 1만명 게놈 프로젝트’의 성공적 추진을 위한 업무 협약이 체결됐다.

정무영 UNIST 총장은 “울산시민 1만 명의 인간 게놈을 해독하고 분석해 혁신적이고 다양한 연구결과를 창출할 것이라 기대한다”며 “UNIST가 게놈 연구 분야를 세계적으로 선도하는 메카로 거듭날 것”이라고 말했다.

출처: 유니스트 뉴스센터

_ENG version -

Genome Korea in Ulsan Launched

- The largest scale Personal Genome Project in Korea to sequence 10,000 people and patients -

ULSAN, KOREA - Nov 25, 2015 -

The Ulsan 10,000 Genome Project, entitled the Genome Korea in Ulsan has been launched in Ulsan Metropolitan City on the 25th of Nov. 2015. The consortium includes the Ulsan Metropolitan City, Ulsan National Institute of Science and Technology (UNIST), Ulsan University Hospital, and the University of Ulsan.

This is a large-scale publicly-funded genome project in Korea, with the estimated funding of ~25 million USD by 2019(not fully acquired yet). The goal is to map complete genomic diversity of Koreans, constructing standardized gene variation database, detecting rare genetic mutations, and providing well-annotated full genome information for growing genomic industry of Korea. The consortium will seek necessary funding from public and private sectors to achieve its goal of sequencing all the Koreans in the next decades. The initial 10,000 samples will be collected from both healthy people and immunocompromised people.

The projects practical aim is to develop an industrial foundation in genomics for future biomedical industry. Ulsan, known as the capital of Korean industrialization, has a well established industrial infrastructure. The consortium will facilitate developing new sequencing and analysis technologies to achieve personalized medicine in Korea. This project is complementary to Korean governments on-going Multi-ministry Genomics Initiative which has started in 2013 with a total sum of 500 million USD for 8 years to carry out human, agricultural, and medical genomics projects.

Genome Korea is in collaboration with Harvard Medical Schools Personal Genome Project (PGP), led by Professor George Church who developed key genome sequencing and editing technologies for decades. UNIST and Harvard Medical School will sign an MOU for the Ulsan 10,000 genome project.

Genome Korea is a participatory project where volunteers donate blood samples and personal and clinical information. Korean PGP project, led by Prof. Jong Bhak at UNIST have already published over 50 high quality individual genomes with the Korean reference genome assembly, funded by Korean government. Ulsans 10,000 genome is the first large scale public project that will expand to the whole Korean population which is similar to 100,000 UK genome and US president Obamas 1 million genome project.

Ulsan mayor, Mr. Ki-hyun Kim, emphasized the significance of Genome Korea in Ulsan project by addressing We aim to make Ulsan as the hub of genomic industry in Asia and beyond by linking it to diagnostic and therapeutic medical industry as a key Korean economic industrialization driving force.

UNIST president, Prof. Mooyoung Jung has an ambitious plan to make this Ulsan 10,000 genome project, by raising the technology level to the world top level innovative research by analyzing 10,000 people genomes at UNIST.

Korea's aging population is growing at a rapid pace. We, therefore, need genome industry to lower the medical cost and prevent national scale infectious disease endemic analyzing genomes and associated omics information. This must be accompanied by the commercialization of the technologies and Genome project can function as the seed of future biomedical revolution in business and society, says Prof. Jong Bhak, the lead researcher of this project.

Ulsan is the most industrialized city in Korea which hosts global business cooperations such as Hyundai, SK, and Samsung. Ulsans main industry has been mostly heavy industrials such as car manufacturing, ship building, and oil refining. Currently, Ulsan plans to develop new high-tech industries such as biomedical devices, reagents, new materials, energy storage, and information technologies. Ulsan 10K genome is a part of such an effort to recruit skilled labor and highly value-added business entities.

UNIST is a new science and technology university in Korea established by the government in 2009.

References

1.https://en.wikipedia.org/wiki/Human_Genome_Project

2. http://bme.unist.ac.kr/launch-of-the-genome-korea-in-ulsan/?lang=ko

3. http://www.yonhapnews.co.kr/bulletin/2015/11/25/0200000000AKR20151125116000057.HTML

4. https://www.genome.gov/12011238/an-overview-of-the-human-genome-project/

5. http://www.bio-itworld.com/Press-Release/Genome-Korea-in-Ulsan-Launched/