Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

UCSD Bioengineers Develop First Computer Model that Predicts Disease Variant Based on Genetic Defect

14.11.2002


Bioengineers have for the first time used a computer model to relate specific genetic mutations to exact variations of a disease. This is the first model-based system for predicting phenotype (function of the cell or organism) based on genotype (an individual’s DNA).


Bernhard Palsson, Professor, Bioengineering



In the study, published in Genome Research (Vol. 12, Issue 11, 1687-1692, November 2002, article link), Bernhard Palsson and his team at UCSD’s Jacobs School of Engineering reviewed genetic information from patients who have an enzyme deficiency that causes hemolytic anemia. Physicians have recorded some 150 DNA sequence variations that could be involved in this type of anemia. By inserting the specific DNA sequences into a computer model for red blood cell metabolism, Palsson accurately predicted which mutations would result in chronic hemolytic anemia and which would cause a less severe version of the disease.

“Eventually, there could be a kind of databank of specific genetic mutations that cause precise disease variants,” says Palsson. “Some mutations will be severe, others benign. And every variation of a disease could be treated differently. This could be incredibly useful for drug development and will aid physicians in creating effective treatment plans for individuals.” A person’s risk of getting a disease is often influenced by a permutation in a single base pair in their genome, called a single nucleotide polymorphism (SNP). And for any one type of cancer such as breast cancer, there may be as much as a dozen variations of the disease. Now that the human genome has been mapped, biotechnology companies and scientists are feverishly developing processes to uncover SNPs that are related to variations of diseases such as cancer, heart disease and a host of inherited disorders.


Until now, most approaches have relied on statistical correlations between reported mutations and occurrences of disease variants.

Palsson’s technique actually defines the mechanism by which a genetic defect causes a disease. He was able to make this mathematical calculation by building a computer model that is based on the well-known metabolism in the human red blood cell.

“The model is like the wiring diagram or design drawings for the cell,” says Palsson. “It incorporates all the genes in the cell, the products of each, and the interwoven process of how those products interact to produce cellular functions. Once we have this computer (now called in silico) model, it is in principle a fairly straightforward process to alter a specific DNA sequence, run a simulation on the program, and receive information back about how the defect impacts the cell’s function.”

Palsson notes that his model is based on 30 years of chemistry and biology research about metabolism in the red blood cell, which is one of the human body’s simplest and most well-understood cell types.

“Building in silico models is a complex process requiring hard-to-find expertise, and it will take a few years before these kinds of models will become common place for diagnosis, management of disease, and development of therapeutics,” says Palsson. “It has become a widely held expectation by an increasing number of scientists that in silico models of human disease processes will significantly impact future delivery of health care. Our research is significant in that we are demonstrating the proof of concept for the first time.”

UCSD has formed a spin-off company, called Genomatica, to bring Palsson’s in silico modeling technologies into commercial use.

Denine Hagen | EurekAlert!
Further information:
http://www.genome.org/cgi/content/full/12/11/1687
http://gcrg.ucsd.edu/personnel/palsson.htm
http://www.genomatica.com/index1.html

More articles from Health and Medicine:

nachricht Organ-on-a-chip mimics heart's biomechanical properties
23.02.2017 | Vanderbilt University

nachricht Researchers identify cause of hereditary skeletal muscle disorder
22.02.2017 | Klinikum der Universität München

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Breakthrough with a chain of gold atoms

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

Im Focus: DNA repair: a new letter in the cell alphabet

Results reveal how discoveries may be hidden in scientific “blind spots”

Cells need to repair damaged DNA in our genes to prevent the development of cancer and other diseases. Our cells therefore activate and send “repair-proteins”...

Im Focus: Dresdner scientists print tomorrow’s world

The Fraunhofer IWS Dresden and Technische Universität Dresden inaugurated their jointly operated Center for Additive Manufacturing Dresden (AMCD) with a festive ceremony on February 7, 2017. Scientists from various disciplines perform research on materials, additive manufacturing processes and innovative technologies, which build up components in a layer by layer process. This technology opens up new horizons for component design and combinations of functions. For example during fabrication, electrical conductors and sensors are already able to be additively manufactured into components. They provide information about stress conditions of a product during operation.

The 3D-printing technology, or additive manufacturing as it is often called, has long made the step out of scientific research laboratories into industrial...

Im Focus: Mimicking nature's cellular architectures via 3-D printing

Research offers new level of control over the structure of 3-D printed materials

Nature does amazing things with limited design materials. Grass, for example, can support its own weight, resist strong wind loads, and recover after being...

Im Focus: Three Magnetic States for Each Hole

Nanometer-scale magnetic perforated grids could create new possibilities for computing. Together with international colleagues, scientists from the Helmholtz Zentrum Dresden-Rossendorf (HZDR) have shown how a cobalt grid can be reliably programmed at room temperature. In addition they discovered that for every hole ("antidot") three magnetic states can be configured. The results have been published in the journal "Scientific Reports".

Physicist Dr. Rantej Bali from the HZDR, together with scientists from Singapore and Australia, designed a special grid structure in a thin layer of cobalt in...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Booth and panel discussion – The Lindau Nobel Laureate Meetings at the AAAS 2017 Annual Meeting

13.02.2017 | Event News

Complex Loading versus Hidden Reserves

10.02.2017 | Event News

International Conference on Crystal Growth in Freiburg

09.02.2017 | Event News

 
Latest News

Stingless bees have their nests protected by soldiers

24.02.2017 | Life Sciences

New risk factors for anxiety disorders

24.02.2017 | Life Sciences

MWC 2017: 5G Capital Berlin

24.02.2017 | Trade Fair News

VideoLinks
B2B-VideoLinks
More VideoLinks >>>