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Genetics, genes and disease From Richard III to Ozzy Osbourne

Genetics, genes and disease From Richard III to Ozzy Osbourne. Mark Patterson Executive Director, eLife Cambridge UK. http://www.ncbi.nlm.nih.gov/books/NBK21112/figure/A8682/?report=objectonly. X and Y. Yeast has been used for thousands of years. Yeast is a model. Yeast cell cycle.

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Genetics, genes and disease From Richard III to Ozzy Osbourne

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  1. Genetics, genes and diseaseFrom Richard III to Ozzy Osbourne Mark Patterson Executive Director, eLife Cambridge UK

  2. http://www.ncbi.nlm.nih.gov/books/NBK21112/figure/A8682/?report=objectonlyhttp://www.ncbi.nlm.nih.gov/books/NBK21112/figure/A8682/?report=objectonly

  3. X and Y

  4. Yeast has been used for thousands of years

  5. Yeast is a model

  6. Yeast cell cycle

  7. CDC7 (Mark’s gene!)

  8. http://www.k.u-tokyo.ac.jp/pros-e/person/hisao_masai/hisao_masai.htmhttp://www.k.u-tokyo.ac.jp/pros-e/person/hisao_masai/hisao_masai.htm

  9. Yeast and human cells share basic processes Humans have genes that control the cell cycle just like yeast CDC genes Using yeast as a model system has improved our understanding of diseases like cancer

  10. Human Genetics Health, ethics, history

  11. The Human Genome 3 x 109 base pairs of DNA (3 m, diploid) About 30,000 genes Completely sequenced in 2003 Cost of ~$3billion

  12. 2007 2 months $1million 2010 4-6 weeks $20 thousand

  13. Now A few days <$5000 And still improving ($3billion in 2003)

  14. Microarrays are used to study thousands of genes at once

  15. Spectrum of disease genes genes + environment environment Malnutrition Infection Accident Lifestyle Single-gene disorders e.g. Cystic fibrosis, Huntington’s disease Majority of common disorders e.g. Diabetes Cancer Heart disease

  16. Newborn Screening for Genetic Diseases

  17. Brian HD Pat (56y) Paul Eric (34) Sue Ben (2months)

  18. Reproductive choice Invasive prenatal diagnosis: Chorionic villus sampling 11 weeks Amniocentesis 15 weeks 1-2% miscarriage risks Non-invasive prenatal diagnosis Blood sample from mum Available for fetal sexing In the future for individual gene mutations

  19. Preimplantation Genetic Diagnosis: sperm + Implant healthy embryo ~20% success egg Test single cells from ~8 embryos

  20. The Ethics of PGD – Saviour Siblings ?

  21. Challenges for gene therapy • Delivery to the correct cells • Correct action of gene • New genetic changes • Immune reaction to the treatment

  22. A new method for targeted editing of genomes http://www.sciencedaily.com/releases/2013/01/130107183237.htm

  23. Leptin – discovery of a gene involved in obesity Ob/ob mice have no leptin – gene is mutated Leptin – a hormone, secreted by fat cells controls appetite and metabolism

  24. Effect of leptin treatment in leptin deficiency 3yr old weighing 42kg 7yr old weighing 32kg

  25. DNA testing and the identification of Richard III in a Leicester car park

  26. Complete Neanderthal genome • 130,000 years old • Helping to pinpoint the mutations that led to evolution of modern humans

  27. Open access • Most research is funded with public money • The internet makes it possible for everyone to have access • Progress is being made to make all research articles and data public

  28. Summary • Studying basic biology leads to important discoveries with big implications • Genetic data is amassing at an incredible rate • Genetics raises many opportunities and questions for our society • Science will become more open, and will enable more people to participate in the discussion • And what about forensics, GMOs, cloning…

  29. Any questions? Mark Patterson Executive Director, eLife Cambridge UK

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