Human Genome Project

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HUMAN

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INTRODUCTION

since the beginning of time, people have yearned to explore the unknown, chart where they have been, and contemplate what they have found

on a new quest to chart the innermost reaches of the human cell, scientists have now set out on biology's most important mapping expedition: the Human Genome Project

its mission is to identify the full set of genetic instructions contained inside our cells and to read the complete text written in the language of the hereditary chemical DNA (deoxyribonucleic acid)

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INTRODUCTION Why do The Human Genome Project?

provide scientists with powerful new tools to help them understand the molecular essence of other tragic and devastating illnesses, such as schizophrenia, alcoholism, Alzheimer's disease, and manic depression.

scientists can study how specific environmental factors, such as food, drugs, or pollutants interact with mutated genes

Human Genome Project research will help solve greatest mysteries of life: How does one fertilized egg "know" to give rise to so many different specialized cells, such as those making up muscles, brain, heart, eyes, skin, blood, and so on?

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INTRODUCTION

begun formally in 1990, the Human Genome Project originally was planned to last 15 years, but rapid technological advances accelerated the completion date to 2003 Timeline

1991 Human chromosome mapping data repository, GDB, established.

HUMAN

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INTRODUCTION

begun formally in 1990, the Human Genome Project originally was planned to last 15 years, but rapid technological advances accelerated the completion date to 2003 Timeline

1997 Escherichia coli genome sequence completed.

HUMAN

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INTRODUCTION

begun formally in 1990, the Human Genome Project originally was planned to last 15 years, but rapid technological advances accelerated the completion date to 2003 Timeline

2004 Human chromosome 16 and 19 completed

HUMAN

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INTRODUCTION

begun formally in 1990, the Human Genome Project originally was planned to last 15 years, but rapid technological advances accelerated the completion date to 2003 Timeline

2008 Genetic Information Non-discrimination Act (GINA) becomes law

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METHODOLOGY

the DNA analyzed in the Human Genome Project came from small samples of blood or tissue obtained from many different people. Although the genes in each person’s genome are made up of unique DNA sequences, the average variation in the genomes

0.05-0.1% 1 in 1000-1 in 2000

of two different people is estimated to be

.

That is, approximately

nucleotides will be different from one individual to another. Thus the differences between human DNA samples from various sources are small in comparison to their similarities

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METHODOLOGY 1st method: Genetic Mapping

identifies only the relative order of genes along a chromosome linkage mapping was developed in the early 1900s by American geneticist Thomas Hunt Morgan human linkage maps are created mainly by following inheritance patterns in large families over many generations today, however, sophisticated laboratory techniques allow researchers to create more detailed linkage maps by comparing the position of the target gene relative to the order of genetic markers, or specific known segments of DNA

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METHODOLOGY

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METHODOLOGY 2nd method: Physical Mapping

physical mapping determines the physical distance between landmarks on the chromosomes. The most precise physical mapping techniques combine robotics, lasers, and computers to measure the distance between genetic markers

for these maps, DNA is broken into many pieces. DNA fragments are then duplicated numerous times in the laboratory so that the resulting identical copies, called clones, can be tested individually for the presence or absence of specific genetic landmarks

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METHODOLOGY 2nd method: Physical Mapping

those clones that share several landmarks are likely to come from overlapping segments of the chromosome. The overlapping regions of the clones can then be compared to determine the overall order of the landmarks along the chromosome and the exact sequence in which the cloned pieces of DNA originally existed in the chromosome. the Human Genome Project most commonly used the DNA sequencing method developed by British biochemist and two-time Nobel laureate Frederick Sanger

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METHODOLOGY

Embedded Flash content was taken from here: http://smcg.cifn.unam.mx/enp-unam/03-EstructuraDelGenoma/animaciones/secuencia.swf

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METHODOLOGY Bioinformatics

a new field of research, bioinformatics, has developed in part to address the computing challenges raised by the project. Researchers in bioinformatics have developed public databases connected to the Internet to make genome data available to scientists worldwide, along with analytical software for making sense of this flood of biological information. For example, DNA-sequence information is stored in several databases, including the Genebank, the European Molecular Biology Laboratory’s Nucleotide Sequence Database, and the DNA Databank of Japan.

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scientists were surprised to learn that the actual number of human genes is far lower than expected:

only about

20 500

predictions that ranged from

genes compared to

50 000 – 140 000

with the human genome sequence completed, scientists are now focusing their attention on the proteins encoded by human genes.

genes

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ISSUES &CONTROVERSIES

increased knowledge of the human genome also has many controversial ethical, legal, and social implications. The project’s findings have sparked worldwide debate on the ethics and legality of patenting human gene sequences for commercial use, the possibility that private genetic information will become available to insurance companies and employers, and the potential danger of correcting genetic defects in ways that would be passed from one generation to the next.

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ISSUES &CONTROVERSIES the high cost is not justified

ability to diagnose a genetic disorder before any treatment is available does more harm than good because it creates anxiety and frustration insurance companies employment moral/religious issues