The Collaboration, Education, and Test Translation (CETT) Program is providing resources to develop genetic tests for rare genetic conditions that may not otherwise come to market. From the website:
Access to quality genetic testing for rare diseases is essential in the diagnosis and management of patients with inherited diseases and their families. Currently the development of tests for rare genetic diseases is not keeping pace with the progress of knowledge of the genetic basis of disease.
At the request of the U.S. Congressional House Appropriations Committee to address the development of diagnostic tests for rare diseases, the Office of Rare Diseases (ORD) established the Collaboration, Education, and Test Translation (CETT) Program for Rare Genetic Diseases, a pilot program to promote new genetic test development and better understanding of each rare disease.
See also the Rare/Orphan disease blog
George Church does a Q&A about the Personal Genome Project with Technology Review.
Emily Singer, The Personal Genome Project. Technology Review Jan 20 2006.
See the article in the Crimson as well.
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The San Francisco Chronicle has a very nice feature on my boss and friend, Ryan Phelan, in this Sunday’s paper. This issue discusses her history as a social entrepreneur and her newest venture, DNA Direct, where I am employed.
A thumbnail of the office where I work. See more pics here.
Katherine Seligman. The Social Entrepreneur. San Francisco Chronicle. Sunday January 8, 2006.
George Church has the feature story in this month’s Scientific American. He reviews a variety of sequencing technologies and introduces the Personal Genome Project to the masses. Snip:
"…we have much work to do in a short amount of time to get ready for the advent of low-cost genome reading. Software will be needed to process sequence information so that it is manageable by doctors, for example. They will need a method to derive an individualized priority list for each patient of the top 10 or so genetic variations likely to be important…"
Some new stats on the current cost of sequencing from the article:
Electrophoresis-based sequencing = 150 base pairs per dollar for "finished" sequence
Polony method = 1400 base pairs per dollar
George Church. "Genomes for All" Scientific American, January 2006.
George Church’s page
Harbinger! I-species is a mash-up of a variety of information sources…
Check it out! See also the I-Species Blog
Hat tip Open Access News with this post…snip: “Once scientists see the value of freeing-up data, mashups will explode…”
Want more mash-ups? Look no further…
What consequence human health?
Hey free medical books! The URL presupposes that these books are for doctors, but…
Hat tip Digg.com