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

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

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 !”

The Physical Aspect of the Living Cell.WHAT IS LIFE?WHAT IS LIFE?

Erwin Schrödinger, 1944

The Human Genome

The Human Genome

21 000

This is a house recently founded

Collins FS et al. (2003) A vision for the future of genomics research. Nature 422, 835-847

GRAND Challenges1. 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 organismal phenotypes (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)

5.5. Develop policy options that facilitate the widespread use of Develop policy options that facilitate the widespread use of genome information in both research and clinical settinggenome information in both research and clinical setting

Genomics to biologyGenomics to biology

This is a house recently founded

Collins FS et al. (2003) A vision for the future of genomics research. Nature 422, 835-847

GRAND Challenges1. 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)

5.5. Investigate how genetic risk information is conveyed in clinical Investigate how genetic risk information is conveyed in clinical settings, how that ... affect health outcomes and costssettings, how that ... affect health outcomes and costs

6.6. Develop genome-based tools that improve the health of allDevelop genome-based tools that improve the health of all

Genomics to healthGenomics to health

This is a house recently founded

Collins FS et al. (2003) A vision for the future of genomics research. Nature 422, 835-847

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

• John, 23-year-old, smoker• Cholesterol level 255 mg/dl• Referred to his physician• Paternal history of MI• Chooses 15 genetic tests

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

A HYPOTHETICAL CASE IN 2010Collins FS (1999) Shattuck lecture - medical and societal consequences of the human genome project. NEJM, 341, 28-

37.

A HYPOTHETICAL CASE IN 2010Collins 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

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

Translation of genomic information to future clinical practice

Bentley DR (2004) Genomes for medicine. Nature, 429, 440-445.

PPAR- - peroxisome-proliferator-activated receptor

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.

• Introduction (just finished)

• Basic Genetic Mechanisms

• Eukaryotic Gene Regulation

• Test 1

• The Human Genome Projects

• Genome I - Genes

• Genome II – Repetitive DNA

• Genome III - Variation

• Test 2

• Genes and Diseases

• Pharmacogenomics

• Test 3

• Your Presentations

• Your Presentations

• Happy New Year!

Molecular GeneticsThe Human Genome: Biology and Medicine

http://priede.bf.lu.lv/ Studiju materiāli / MolekularasBioloģijas / MolGen / EN

http://priede.bf.lu.lv/ Studiju materiāli / MolekularasBioloģijas / MolGen / EN