2014Marek Vácha

The future of customize medicine is in your DNA; don´t wait until you are sick to learn why.

Dr. Mehmet Oz

DNA analysis

23andMe https://www.23andme.com/ Navigenics http://

www.navigenics.com/ deCODE http://www.decode.com/

DNA analysis

23andMe https://www.23andme.com/ $ 399 spitting into special test tube

Navigenics http://www.navigenics.com/ $ 2499 spitting into special test tube

deCODE http://www.decode.com/ $ 985 scraping cells from a cheek by a swab

2013: DNA analysis

23andMe https://www.23andme.com/ $ 99 spitting into special test tube

Navigenics http://www.navigenics.com/ $ spitting into special test tube

deCODE http://www.decode.com/ $ scraping cells from a cheek by a swab

Your DNA sequence, properly encrypted, will soon become a permanent part of your electronical medical record

Collins, F., (2010) The Language of Life. Profile Books LTD. London, GB.

„Genes load the gun, and environment pulls the trigger.“

Collins, F., (2010) The Language of Life. Profile Books LTD. London, GB. p. 126

For centuries, we considered ourselves to be healthy until symptoms of illness arose. Once diagnosed, correctly or not, we received standardized treatments. In accordance with this view, the human body was generally ignored untill something went wrong.

Collins, F., (2010) The Language of Life. Profile Books LTD. London, GB. p. 34

We do not have a health care system; we have a sick care system!

Collins, F., (2010) The Language of Life. Profile Books LTD. London, GB. p. 58

An additional surprise emerged: for most of the genetic variants that played a role in risk of disease, the problem wasn´t that the glitch led to a garbled protein; rather, the glitch affected whether the responsible gene was turned „off“ or „on“ at the right time and in the right amount.

Collins, F., (2010) The Language of Life. Profile Books LTD. London, GB. p. 138

Intelligence

as for intelligence there is currently no evidence that genetic contributors to intelligence are differentially distributed across the globe.

Collins, F., (2010) The Language of Life. Profile Books LTD. London, GB. p.257

Since none of us can choose our DNA, it should not be used to discriminate against us – any more than we should be discriminated against because of the color of skin.

Collins, F., (2010) The Language of Life. Profile Books LTD. London, GB. p. 207

USA

On May 14, 2008, President Bush signed the legislation /against genetic discrimination in health insurance and in the workplace/.

lincRNA http://www.youtube.com/watch?v=8e9-APttutU

Eric Lander cca 100% of the genome transcribed into RNA (non-

coding) ...but most in extremly low level, poorly conserved is it biologically functional or biological noise? only cca 15 functional long ncRNAs known

XIST, AIR, HOTAIR, H19, TUGI, JPX, KCNQ, PINC, NEAT1, lincP21

there are thousands lincRNA in mammals lincRNAs

scaffold regulatory proteins to control cell state can exploit and alter chromosome architecture

lincRNA http://www.youtube.com/watch?v=8e9-APttutU

longer than 200 nucleotides are not so conserved like protein-coding

genes but are more conserved than background

lincRNAs http://www.youtube.com/watch?v=8e9-APttutU

make flexible scaffold regulating cell states

can exploit and alter chromosome architecture

Biology 2.0Post-Genomic Biology

Biology 2.0Post-Genomic Biology

 the way genes are switched on and off is at least as important, both biologically and medically, as the composition of those genes. 

The idea that the recipe book would be easy to understand is kind of hubris. 

View from 2001

Protein-coding genes:

Regulatory Sequences:

Non-coding RNAs

Transposons

35 000 – 120 000

less than protein-coding information (promoter + a few enhancers)

just a few classical types (rRNA, tRNA, snoRNA + XIST, telomerase, 7SL, H19)

Parasites, junk

View from 2013

Protein-coding genes:

Regulatory Sequences:

Non-coding RNAs

Transposons

21 000

much MORE than protein-coding information (5:1 ratio)

around 7 000

symbionts (accelerate evolution)

evolutionary conserved sequences 6%protein-coding genes 1,2 % most conserved sequences are in the gene-

poor regions!

most evolutionary inovation concerns non-coding sequences highly conserved elements control early

development

The Road Ahead

Complete catalogs across the wide range of cell types and conditions of all transcripts all long-range genomic modifications all epigenetic modifications all interactions among proteins, DNA and RNA