Carol Zubiría for SCW 2012-13

Introduction Human genome: more than 3M "letters" A. T & G First mapped and sequenced: from 1990 to 2003. . The Human Genome Project (HGP) international initiative Sequencing the human genome: ●identify important genes and regulatory regions. ●investigate our origins using variations in the DNA sequence.C. ●better understand their role in disease.

Introduction Like 200 yellow pages books. .

involving thousands of staff in institutes across the globe. ●By assigning different portions of the genome to different research groups in a coordinated and efficient way. the HGP researchers were able to . ●First major global collaboration of its kind and the largest biological research project ever undertaken. What was the Human Genome Project? ●HGP aim: sequence the entire human genome and provide the data free to the world.

What was the Human Genome Project? .

Who took part in the project? Twenty institutes from six different countries (China. UK and USA) ●Wellcome Trust Sanger Institute ●Washington University School of Medicine ●Whitehead Institute/MIT centre for Genome research ●The DOE’s Joint Genome Institute ●Baylor College of Medicine . France. Germany. Japan.

●Shipped between collaborating institutes.How was the human genome sequenced? ●Sequencing technology: only a few hundred base pairs of DNA at a time. ●Clones then broken into smaller pieces (4000-6000 base pairs). .000 base pair sections (clones) ●Inserted into bacterial DNA. living libraries of the DNA clones. ●It had to be broken up into small pieces for sequencing → giant jigsaw puzzle. ●First 200.

●Bacterial colonies transferred to tubes → lysed → DNA extracted. ●Resulting data pieced together to form the whole genome sequence. . ●Sanger sequencing method.How was the human genome sequenced? ●Clones then broken into smaller pieces (4000-6000 base pairs) ●Re-inserted into bacteria ●Cultured to make enough DNA for sequencing.

How was the human genome sequenced? .

●Started: October 1990 ●First “draft”: June 2000 ●Finished sequence: April 2003 ●Published: 2004. . ●Expected more than 15 years. How long did the HGP take? ●HGP took 13 years. ●Work continues to refine the “reference” human genome sequence.

. ●Deposited in freely available.Who has access to the human genome data? ●Put simply. online public ●Access to more than 50 species’ genomes.ensembl. ●Genome browsers: www. ●Provide free and open access to the data for everyone in the scientific community and the public domain. everyone.

.What happened after the HGP was finished? Officially finished. ● ●Research continues on the human reference sequence. ● SNPs (single nucleotide polymorphisms): ● Genetic variation differences in single bases. Filling in the “gaps” in the sequence.

. Results 2005 simplify studies to understand how ● genetic variation contributes to health and disease.What happened after the HGP was finished? HapMap project: 3 year → chart the patterns of ● genetic variation common in the world’s population.

●Launched in January 2008. ●Aim: to sequence the genomes of at least a thousand people from around the world. . 1000 Genomes Project ●International research consortium. to identify very clearly those variations between individuals that are medically important and map these on the genome.

000 € . Genome sequencing Evolution € HGP ● 13 years Billions $ Watson 2007 ● 4 months $1M Helicos 2009 ● 1 month $ 48.000 Now ● 1 or 2 weeks 6.

8. Gene therapy . Variations in regulatory regions: high risk diseases.4 M (10 to 20 letters) identified. Genome sequencing NOW How are genes activated? Genes regulation by regulatory regions.