IP: Dr. David Comas Martínez

Resumen del proyecto: The genetic diversity analysis has allowed us to discover genetic variants that cause disease. Population differences on the frequencies of these variants are mainly caused by the demography and population history of these populations. Bottlenecks, migrations, expansions and different environmental factors affect the distribution of these genetic variants. Some of these genetic variants have been identified and have reveal some genes responsible for some Mendelian or simple diseases. In some populations where these diseases are common, prenatal tests are performed. An example of a population with specific diseases is the Jewish population. However, there are several variants in these genes that are still unknown due to the targeted screening performed to indentify known variants. The goal of the present project is the exon sequencing in a shown that some genes linked to diseases frequent in Jews and in a reference population ( in the present case, Spanish) with the aim to detect all the genetic diversity (not only the mutations already described) at a population level. The project has a biomedical aspect but based on the population description of variants detected on specific genes related to common diseases in Jews.

Entidad financiadora: Ministerio de Ciencia e Innovación