DNA database unlocks genetic diseases

2012-09-06 14:19
This undated image shows the 46 human chromosomes, where DNA resides and does its work. (National Cancer Institute, AP)

This undated image shows the 46 human chromosomes, where DNA resides and does its work. (National Cancer Institute, AP)

Multimedia   ·   User Galleries   ·   News in Pictures Send us your pictures  ·  Send us your stories

kalahari.com

Chicago - A massive DNA database has generated a map of the genetic switches which impact everything from hair loss to cancer and opened the door to revolutionary treatments for a host of deadly diseases, researchers said.

"This is a major step toward understanding the wiring diagram of a human being," said lead researcher Michael Snyder of Stanford University.

The Encyclopedia of DNA Elements - or Encode - has enabled scientists to assign specific biological functions for 80% of the human genome and has helped explain how genetic variants affect a person's susceptibility to disease.

It also exposed previously hidden connections between seemingly unrelated diseases such as asthma, lupus and multiple sclerosis which were found to be linked to specific genetic regulatory codes for proteins that regulate the immune system.

A key insight revealed in a host of papers published in the journals Nature, Science and Cell is that many diseases result from changes in when, where and how a gene switches on or off rather than a change to the gene itself.

"Genes occupy only a tiny fraction of the genome, and most efforts to map the genetic causes of disease were frustrated by signals that pointed away from genes," said co-author John Stamatoyannoupoulos, a researcher at the University of Washington.

"Now we know that these efforts were not in vain, and that the signals were in fact pointing to the genome's 'operating system'."

Scientific understanding

Another significant finding is that this blueprint of genetic switches can be used to pinpoint cell types that play a role in specific diseases without needing to understand how the disease actually works.

For instance, it took researchers decades to link a set of immune cells with the inflammatory bowel disease Crohn's. The Encode data was able to swiftly identify that the genetic variants associated with Crohn's were concentrated in that subset of cells.

This in-depth map of the human genetic code has also altered scientific understanding of how DNA works.

The first sketch of the human genome described DNA as a string which contained genes in isolated sections that make up just 2% of its length.

The space in between was dubbed "junk DNA" and many researchers did not believe it served a function. Attention was focused on the "coding" genes which carried instructions for making the proteins that carried out basic biological functions.

Encode confirmed more recent theories that the bulk of this "junk" is actually littered with switches that determine how the genes work and act as a massive control panel.

"Our genome is simply alive with switches: Millions of places that determine whether a gene is switched on or off," said lead analysis co-ordinator Ewan Birney of the EMBL-European Bioinformatics Institute.

"We found a much bigger part of the genome - a surprising amount, in fact - is involved in controlling when and where proteins are produced, than in simply manufacturing the building blocks."

Key mechanisms

Perhaps most importantly, the database has been made available to the scientific community - and the general public - as an open resource in order to facilitate research.

"Encode gives us a set of very valuable leads to follow to discover key mechanisms at play in health and disease," said Ian Dunham of the EMBL-European Bioinformatics Institute, who played a key role in coordinating the analysis.

"Those can be exploited to create entirely new medicines, or to repurpose existing treatments."

The project combined the efforts of 442 scientists in 32 labs in the US, Britain, Spain, Switzerland, Singapore and Japan.

The researchers used about 300 years worth of computer time to study 147 tissue types and identified over four million different regulatory regions where proteins interact with the DNA.
Read more on:    research  |  genetics
NEXT ON NEWS24X
SHARE:

Read News24’s Comments Policy

24.com publishes all comments posted on articles provided that they adhere to our Comments Policy. Should you wish to report a comment for editorial review, please do so by clicking the 'Report Comment' button to the right of each comment.

Comment on this story
9 comments
Add your comment
Comment 0 characters remaining
 

Inside News24

 
/News

Jobs in Cape Town [change area]

Jobs in Western Cape region

Java Developers

Western Cape
CR Solutions
R30 000 - R40 000 Per Month

Financial Accountant

Cape Winelands
Vine Recruitment

Project Administrator

Cape Town
Cozens Recruitment Group (HEAD OFFICE)
R12 000 - R20 000 Per Month

Property [change area]

Travel - Look, Book, Go!

Magical Massinga

Spend 5 nights at the gorgeous Massinga Beach Lodge in Mozambique and only pay for 4 from R13 220 per person sharing. Includes return flights, accommodation, transfers and romantic turndown. Book now!

Kalahari.com - shop online today

Camping gear!

We’ve got all your camping must have’s right here at mind blowing low prices. Check them out now!

Herbex – buy 3 & get 1 free!

Fat burn packs, appetite control chewies, stretch mark cream and more. Offer valid while stocks last. Shop now.

30% off Jinger Jack handbags

Spice up your wardrobe and save 30% on stylish Jinger Jack handbags. Offer valid while stocks last. Shop now!

Buy 3 books & pay for 2

The cheapest of the 3 books will be free. Offer valid while stocks last. T&Cs apply. Shop now!

Deal of the week!

Hisense 40” Full HD LED Television now R3999. Offer valid while stocks last. Buy now!

OLX Free Classifieds [change area]

Samsung Galaxy s4

Mobile, Cell Phones in South Africa, Western Cape, Cape Town. Date October 24

Best bargain in big bay

Real Estate, Houses - Apartments for Sale in South Africa, Western Cape, Cape Town. Date October 25

VW Golf 6, 1.6 Trendline (Excellent condition)

Vehicles, Cars in South Africa, Western Cape, Cape Town. Date October 25

Horoscopes
Aquarius
Aquarius

Mercury has moved into Libra which adds a more social energy to the way you can communicate and connect things. Today is about...read more

There are new stories on the homepage. Click here to see them.
 
English
Afrikaans
isiZulu

Hello 

Create Profile

Creating your profile will enable you to submit photos and stories to get published on News24.


Please provide a username for your profile page:

This username must be unique, cannot be edited and will be used in the URL to your profile page across the entire 24.com network.

Settings

Location Settings

News24 allows you to edit the display of certain components based on a location. If you wish to personalise the page based on your preferences, please select a location for each component and click "Submit" in order for the changes to take affect.








Facebook Sign-In

Hi News addict,

Join the News24 Community to be involved in breaking the news.

Log in with Facebook to comment and personalise news, weather and listings.