ALBINISMO: Diagnóstico genético y posible tratamiento del albinismo

Fecha de inicio: 2015 Fecha de finalización: 2017 Código Proyecto: ACCI2015-05 Financiación: 70.000 € Financiador: Ciberer El albinismo es una condición genética rara (afecta a 1:17000 personas, unas 3000 personas con albinismo en nuestro país) caracterizada por una discapacidad visual severa que puede aparecer asociada a alteraciones en la pigmentación en piel, pelo y ojos…

The “Obesity Paradox” in multiple prevalent diseases. A translational approach

Project coordinator (PC): Castillo Sánchez, José Code: PI13/00024 Call: Acción Estratégica en Salud 2013 (AES2013) – Instituto de Salud Carlos III (ISCIII). Ministerio de Economía y Competitividad (MINECO) Budget: 605.000,00€ Starting date: 01/01/2014 Term: 3 years Project abstract:It is well described that obesity and low body weight has a negative influence on survival in normal…


Project summary: major environmental hazards may lead to serious, chronic pathologies with large societal and economic costs, especially when exposed during critical developmental periods in pregnancy or early life. Special susceptibility during these times requires special protection through public health action and environmental legislation. Many associations between early-life exposures and health remain poorly characterised, giving rise to uncertain health risk and impact assessments due to lack of comprehensive data on exposure to multiple environmental hazards in early life, the large degree of exposure misclassification and uncertainties, and lack of integrated multiple environmental hazards and individual variability to estimate combined effects on health. Focus has almost uniquely been on single exposure-health effect relationships, lacking a global view of how various types of exposures co-exist and jointly impact on health during critical developmental periods.
The “exposome” encompasses the totality of human environmental exposures from conception onwards; key focus is its epidemiological applications for prevention of human disease. The HELIX (Human Early-Life Exposome) concept is built around these needs in human population studies.

Key Words: exposome concept, molecular exposure signature, environment, pollutants, predictors, genes, disease risks, health protection,epidemiological applications, -omics techniques, bioinformatic tools, database, early-exposome tool kit.