miércoles, 18 de junio de 2014

This 15-Year-Old Came Up With Software To Hunt Down Cancer-Causing Gene Mutations

In winning the Intel science fair, Nathan Han is already having an impact.

The Intel International Science and Engineering Fair doles out awards each year to high schoolers who could run intellectual circles around many adults. Jack Andraka, the creator of a cheap, accurate pancreatic cancer sensor, is a past winner. This time around, first place went to another cancer-related project: a computer program that can predict how harmful gene mutations related to cancer might be.

Nathan Han, a 15-year-old from Boston, says that he's been fascinated with bioinformatics for awhile. When a close friend's mother was diagnosed with ovarian cancer, he started thinking about possible projects. It's one of the most studied genes in the human genome.

In January, Han settled on his entry, which evaluates mutations in the BRCA1 gene--a gene commonly associated with ovarian and breast cancer--to see how harmful they are. Han taught his software program to suss out the difference between disease-related mutations and harmless mutations using data from public databases.

"I chose to focus on BRCA1 in particular for practicality. It's one of the most studied genes in the human genome," he says.

According to Han, his program has an 81% accuracy rate in identifying cancer-causing mutations, while existing algorithms have an accuracy rate of about 40%. His software could one day be customized to evaluate other genes and diseases, paving the way for better cancer diagnostic tools. "Down the road, as accuracy improves, I can imagine using this sort of process for personalized genomic analysis," Han says.

The 15-year-old hopes to publish his research, but at the moment, he's looking for a summer job in a research lab. His $75,000 science fair winnings will go towards college funds.

ORIGINAL: FastCo
By Ariel Schwartz
June 5, 2014

Ariel Schwartz is a Senior Editor at Co.Exist. She has contributed to SF Weekly, Popular Science, Inhabitat, Greenbiz, NBC Bay Area, GOOD Magazine and more. For story ideas: ariel[at]fastcompany.com

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