An ultra-high throughput mutational spectrometer for human genetic diagnostics

Discovering the genetic causes of common diseases may require scanning for mutations in all of the genes in a million people, a significant undertaking. Such discoveries would revolutionize biotechnology, potentially enabling simple genetic tests for risk and targeted preventative or therapeutic strategies. An increase in throughput of genetic analysis instrumentation by several orders of magnitude is essential to undertake such an ambitious task. In this thesis, progress will be presented towards the creation of such a "mutational spectrometer" instrument containing up to 10,000 capillary channels and enabled with subsystems for loading, separating, and detecting fluorescently-labeled DNA. Challenges include DNA manipulation, optical signal detection, macro/micro design integration, precision alignment and assembly, and thermal control. To manipulate DNA, we have utilized a bioMEMS design platform for interfacing to an array of separation channels that enables electrokinetic biomolecule loading, detection, and fraction collection in independent wells.

Department dc:contributor.department

Massachusetts Institute of Technology. Dept. of Mechanical Engineering.

Grantor dc:publisher

Massachusetts Institute of Technology

Year dc:date.issued

2007

Author dc:creator

• Forest, Craig Richard, 1978-

Advisor dc:contributor.advisor

• Ian W. Hunter.

• Mechanical Engineering.

Statement dc:rights

• M.I.T. theses are protected by copyright. They may be viewed from this source for any purpose, but reproduction or distribution in any format is prohibited without written permission. See provided URL for inquiries about permission.

Licence dc:rights.uri

• http://dspace.mit.edu/handle/1721.1/7582

Language dc:language.iso

eng

Handle dc:identifier.uri

http://hdl.handle.net/1721.1/39899

OAI identifier oai:identifier

oai:dspace.mit.edu:1721.1/39899