My fascination with human genetics began in my teenage years. During my Biology degree I furthered my experience in human genetics by volunteering in 1990 in the Genetics Department at the Hospital Clínic in Barcelona, which was my first contact with biomedicine. Later on, I also worked on a volunteer basis in the Genetics Department of my graduate school. Since I was more attracted to the hospital environment, I started my Ph.D. in 1992 in the Genetics Department at the Hospital Clínic. During this 4-year period I acquired knowledge and experience in fragile X syndrome and other hereditary conditions and used a wide range of techniques to characterize them from a molecular point of view. I also participated in the design and translation of these tools to perform molecular diagnostics. Right after my Ph.D. dissertation in 1996, I started a postdoctoral period in the United States focusing on the study of ataxia-telangiectasia, another hereditary condition, at the University of California, Los Angeles (UCLA). After three years, I re-joined my former group to do a second postdoctoral stay and I started working on non-syndromic mental retardation. During this period I moved away from hereditary diseases mainly caused by alterations in a single gene and I started working on a complex human disease. As is well-known, genetic disorders may also be multifactorial or polygenic, meaning they are likely associated with the effects of multiple genes in combination with lifestyles and environmental factors.
With the aim of setting up an independent research group within the Gastrointestinal and Pancreatic Oncology team at IDIBAPS, I applied for and was awarded in 2004 a Miguel Servet contract from the Spanish Carlos III Health Institute. The group bears the name of “Genetic predisposition to CRC”. Its main objective is to identify genetic variants involved in germline predisposition to CRC by performing genetic association studies and next generation sequencing and to translate them to improve the clinical management of patients. In this way, I have been able to apply my previous knowledge in genetics to study another disease from both monogenic and polygenic points of view.