My current research is mainly focused on the study of the influence of genetic factors on common human diseases from an evolutionary, genetic epidemiological, epigenetic and functional point of view.
Specifically, I am interested on complex loci including mitochondrial DNA copy number, nuclear CNVs and non-recombining haplogroups. I have also published a number of studies on specific human diseases.
The analytical approaches used include association studies (and GWAS), causal analyses through Mendelian Randomisation, Bioinformatics, Population Genetics and whole-genome sequence analysis in consanguineous families.
Previous work includes linkage disequilibrium analyses, developing and patenting a new method for dinucleotide repeat genotyping, study of the human chromosome Y in the context of complex traits and statistical genetic analyses of two candidate genomic regions (the IGF2-INS-TH region and the ACE-GH cluster) in relation to metabolic and cardiovascular risk traits. My experimental laboratory work included specific SNPs, microsatellites and method developments.
I obtained my degree in Biology in the University of Santiago de Compostela (USC) (Spain) in 1994. In 1995, I obtained my Mphil in the USC (Spain) working on a project combining Cytogenetics and Population Genetics.
My PhD project in the USC (Spain) (1999) was both in the characterization of patterns of gametic disequilibrium (or linkage disequilibrium, LD) between dinucleotide repeat loci spanning human chromosome 11p15, and in the development of a new methodology (now patented) for dinucleotide repeat genotyping.
In 2002, I moved to the Human Genetics Division (University of Southampton), funded in the first instance by a European Community Marie Curie Fellowship. I was involved first in the analysis of human chromosome Y in the context of complex traits. I continued working within the Human Genetics Division as a postdoctoral research fellow until October 2006, funded from a UK Medical Research Council Programme grant and from HOPE. My main work has been in statistical genetic analyses of two candidate genomic regions (the IGF2-INS-TH region and the ACE-GH cluster) in relation to metabolic and cardiovascular risk traits, but I also performed experimental laboratory work (focused on specific SNPs, microsatellites and method developments).
In 2006 I moved to the Department of Social Medicine (University of Bristol), initially as a lecturer, until 2011, when I progressed to Senior Lecturer. During this period of time, I have been involved on a wide range of projects centred on Human Genetics. These include human population genetic studies, genetic epidemiological studies and molecular genetic studies.
View complete publications list in the University of Bristol publications system
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