Unidad de farmacogenética

Desarrollado por: Instituto de Investigación Sanitaria La Fe

Descripción

The Pharmacogenetics Unit studies the genetic variability regarding the response to drugs to predict effectiveness and safety of the treatments associated. The subject of analysis are genetic variants present in genes coding for proteins and enzymes of drug transport, metabolism and drug target/mechanism of action.

Amongst the possible genetic variants, this Unit analyzes the Single Nucleotide Polymorphisms (SNPs), which represent 90% of all the human genetic variability, existing approximately 1 SNP every 1.700 nucleotides.

EQUIPMENT

The analyses are performed in the MassArray Compacte © – SEQUENOM genotyping platform, based on PCR followed by Maldi-Tof mass spectroscopy.

This device allows in one single assay the determination of about 40 SNPs, in 40 different samples (patients), running the test in triplicates; that is 1.600 genetic determinations at a time, which allows the inclusion of validated and candidate SNPs in the same design.

Contact

Scientific Leadership: Salvador F. Aliño, MD 

Responsible Technician: María José Herrero, PhD

Dirección postal:

e-mail: unidad_farmacogenetica@iislafe.es

Tel nº: (+34) 961 244 985 

http://www.iislafe.es/en/pharmacogenetics-unit