priede.bf.lu.lv - Studiju materiāli / MolekularasBiologijas / MolGen / EN

1. http://priede.bf.lu.lv - Studiju materiāli / MolekularasBiologijas / MolGen / EN

2. ALICE: “Well in our country you’d generally get to somewhere else - if you ran very fast for a long time as we’ve been doing.”THE QUEEN: “A slow sort of country! Now, here, you see, it takes all the running you can do, to keep in the same place. If you want to get somewhere else, you must run at least twice as fast as that !”

3. WHAT IS LIFE? The Physical Aspect of the Living Cell. Erwin Schrödinger,1944

4. The Human Genome 21 000

5. This is a house recently foundedCollins FS et al. (2003) A vision for the future of genomics research. Nature422, 835-847

6. Genomics to biology GRANDChallenges 1.Comprehensively identify the structural and functional components encoded in the human genome (content) 2. Elucidate the organization of genetic networks and protein pathways and establish how they contribute to cellular and organismalphenotypes (regulation) 3. Develop a detailed understanding of the heritable variation in the human genome (variation) 4. Understand evolutionary variation across species and the mechanisms underlying it (evolution) 5. Develop policy options that facilitate the widespread use of genome information in both research and clinical setting This is a house recently foundedCollins FS et al. (2003) A vision for the future of genomics research. Nature422, 835-847

7. Genomics to health GRANDChallenges 1.Develop robust strategies for identifying the genetic contributions to disease and drug response (finding ‘disease’ genes) 2. Develop strategies to identify gene variants that contribute to good health and resistance to disease (finding ‘health’ genes) 3. Develop genome-based approaches to prediction of disease susceptibility and drug response, early detection of illness, and molecular taxonomy of disease states (genomic medicine) 4. Use new understanding of genes and pathways to develop powerful new therapeutic approaches to disease (new drugs) 5. Investigate how genetic risk information is conveyed in clinical settings, how that ... affect health outcomes and costs 6. Develop genome-based tools that improve the health of all This is a house recently foundedCollins FS et al. (2003) A vision for the future of genomics research. Nature422, 835-847

8. Bell J (2004) Predicting disease using genomics. Nature, 429, 453-456.

9. Bell J (2004) Predicting disease using genomics. Nature, 429, 453-456. A HYPOTHETICAL CASE IN 2010 Collins FS (1999) Shattuck lecture - medical and societal consequences of the human genome project. NEJM, 341, 28-37. • John, 23-year-old, smoker • Cholesterol level 255 mg/dl • Referred to his physician • Paternal history of MI • Chooses 15 genetic tests

10. Bell J (2004) Predicting disease using genomics. Nature, 429, 453-456. A HYPOTHETICAL CASE IN 2010 Collins FS (1999) Shattuck lecture - medical and societal consequences of the human genome project. NEJM, 341, 28-37. • Results in a week • Change in health-related • behaviour • Prophylactic drug regimen • to reduce risk of MI • Will begin program of • annual colonoscopy at 45 • Gives up smoking

11. Translation of genomic information to future clinical practice Bentley DR (2004) Genomes for medicine. Nature, 429, 440-445. PPAR-g - peroxisome-proliferator-activated receptor

12. Dreams and reality Green ED, Guyer MS et al. (2011) Charting a course for genomic medicine from base pairs to bedside. Nature, 470, 204-213.

13. Molecular Genetics The Human Genome: Biology and Medicine • Introduction • Basic Genetic Mechanisms • Eukaryotic Gene Regulation • The Human Genome Projects • Test 1 • Genome I - Genes • Genome II – Repetitive DNA • Genome III - Variation • Test 2 • Monogenic and Complex Diseases • Finding ‘Disease’ Genes • Pharmacogenomics • Test 3 • Your Presentations • Your Presentations • Happy New Year!  http://priede.bf.lu.lv/ Studiju materiāli / MolekularasBioloģijas / MolGen / EN