The general aim of the research is to identify genes that are relevant for two multifactorial conditions, osteoporosis and obesity, in order to understand the pathogenesis of these conditions and to reveal novel putative therapeutic targets.
In order to obtain this, the specific aims of our work are:
- identification of genes for monogenic conditions with an abnormal bone density
- identification of genes involved in rat models with an increased bone mineral density
- functional characterization of genes which are identified in these projects
- evaluation of the influence of natural variants within these genes on bone mineral density in the general population
- identification of causal mutations in candidate genes for morbid obesity in children
- evaluation of the influence of natural variants within candidate genes for obesity and their role in the pathogenesis of this condition
- DNA micro-array analysis to identify small chromosomal rearrangements in syndromal cases of morbid obesity
- Identification of novel causal genes for abnormal bone mineral density and morbid obesity by Next Generation Sequencing
Both the osteoporosis and obesity project have a similar goal, being the identification of genetic factors that contribute to the pathogenesis of both multifactorial conditions.
The strategies involve the analysis of large families, the study of animal models and the use of large random cohorts. Furthermore, recent technologies (DNA micro-arrays, next generation sequencing) will increase the power to detect novel genes of relevance.
In a final step, the identified genes and variants are studies at the functional level in order to understand its role in the pathogenesis of the diseases and their putative therapeutic applications.