Acquisition of an automated genetic analysis platform for research and diagnosis

• Grant number: 09/53863-0
• Support Opportunities: Multi-user Equipment Program
• Start date: November 01, 2010
• End date: October 31, 2012
• Field of knowledge: Health Sciences - Medicine
• Principal Investigator: Carlos Alberto Moreira Filho
• Grantee: Carlos Alberto Moreira Filho
• Host Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil
• EMU web page: Página do Equipamento Multiusuário não informada
• Type of equipment: Tipo de Equipamento Multiusuário não informado
• Manufacturer: Fabricante não informado
• Model: Modelo não informado

Abstract

The Laboratories for Medical Research (LIM) affiliated with this proposal are engaged in research and health care support services at the USP School of Medicine Hospital das Clínicas. In these laboratories, the study of DNA from biological samples, including sequencing, polymorphism studies, and fragment analysis, is essential. In particular, LIM-36, which is a referral center for clinical genetics, employs these techniques, as well as others, for research and diagnostics. The same is true for other laboratories: LIM-24 (Oncology) develops and provides genetic tests for breast cancer, as well as investigating the molecular mechanisms involved; LIM-15 (Neurology) is a referral center for all of Latin America in glycogen-storage disease type II (Pompe disease) and tumors of the central nervous system; and LIM-29 (Nephrology) leads the country in studies of polycystic kidney disease. All of these activities rely on automated DNA sequencing equipment. However, the sequencers suited to the purposes mentioned above and currently available for use by the staff of these LIMs have already surpassed (or are rapidly approaching) their estimated useful lifetimes, having been out of production for several years, a situation that threatens the continuity of research and health care service provision. The suggested replacements for such outdated equipment are the nextgeneration sequencers (e.g., Roche 454, Illumina Solexa, ABI SOLiD), which are designed for large-scale analyses , typically 500 MB to 2 GB per run, and are priced at over US$ 600,000, with operating costs of US$ 8,000 to US$ 10,000 per run—approximately US$ 40 per sample—precluding their use in clinical genetics. To meet the specific needs of research and clinical genetics facilities, an automated platform for small-scale DNA analysis, the Applied Biosystems 3500 Genetic Analyzer, was introduced. This proposal is aimed the acquisition of one of these platforms, which employ capillary electrophoresis for DNA sequencing and multiplex analysis of DNA fragments (up to six fluorophores). The cost of this equipment is one fifth of that of the high performance platforms, and the operating costs will be 50 to 100 times lower. (AU)