Clara Ruiz Ponte

PhD in Biology and Associate of the Galician Public Foundation for Genomic Medicine (FPGMX), dependent on SERGAS, where she carries out welcare work at genetic and molecular hereditary diseases diagnosis, mainly hereditary predisposition to cancer symptoms.

Herapplied research activity in the field of clinical genetics and integrated in the Genomic Medicine Group of USC/IDIS, coordinated by A. Carracedo, is focused on the study of hereditary susceptibility to colorectal cancer (CRC).

Since 2005,she has obtained public and private financing as IP in 6 research projects (4 publics and 2 privates). In addition, she is an active member of EuCOLONGENE/COGENT consortium (COST Action BM1206) in which she participates in collaborative projects of genetic susceptibility to CRC along with the most important international groups that work in this line. As a result of these collaborations,common susceptibility variants (SNPs and CNVs) have been identified, which allow a personalized medicine approach to CRC risk stratification in general population (NatureGenetics 2008, PloSGenetics 2011, Hum Mol Genet 2012, Gut 2013).As a result of these investigations, sheis the author of more than 70 publications in human genetics and cancer indexed in PubMed.

She is currently researching in hereditary cancer, the genetic cause of not notized colon polyposis and the appearence of CRC in young patients without germ alterations in known Mendelian genes,through omic approaches.

Her objective in the mid-long term is for those results, once validated, to have a direct application in clinical practice to improve the genetic diagnosis of hereditary colorectal cancer. Thisgenerated knowledge will allow patients and their families at risk to benefit from adequate cancer prevention measures.