IP: Dr. Ángel Campos-Barros/ Dra. Karen E. Heath

Resumen del proyecto: The requested control DNA samples are necessary for the following funded research projects: 1) Investigation and molecular diagnosis of the genetic bases of short stature and diabetes mellitus type MODY: experimental evaluation of new techniques for genomic analysis (FIS PI02/1663; PI: Dr. Ángel Campos-Barros); 2) Genetic determinants of childhood obesity: mutation analysis and identification of genetic markers in the ghrelin signalling pathway (FIS PI05/1614; PI: Dr. Ángel Campos-Barros); 3) Genetic and functional analysis of SHOX and SHOX2 in human growth (SAF 2003-02511; PI: Dr. Karen E Heath); The overall aim of these projects is the study of genetic determinants of proportional short stature (nº1), non-proportional short stature (nº3), diabetes mellitus type MODY (nº1), and the identification of possible genetic defects and markers within the ghrelin signalling pathway in childhood obesity (nº2). During the undertaking of these research projects we have identified and will identify large numbers of sequence variants of the genes implicated in these disorders (see detailed list below). To determine the pathogenicity of these variants we need to determine their allele frequencies in a control population cohort of the same ethnic group, i.e. Spanish.

Entidad financiadora: Fundación Endocrinología y Nutrición (Hospital Infantil Universitario Niño Jesús)