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.
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