Project Summary

Michael A. Escamilla, M.D. (Independent Investigator 2002) of University of Texas Health Science Center at San Antonio, will attempt to hone in on a particular gene within a region of chromosome in an effort to identify regions of chromosomes that are candidates for containing schizophrenia (SC) genes.  This has typically been difficult, but the process can be enhanced if carried out in a “founder” population (populations where most current members come from a small group of ancestors). His work focuses on fine mapping and identification of susceptibility genes for Bipolar Disorder (BP) and SC in a founder population in the Central Valley of Costa Rica.  Previous work in this population has provided the world with a location of a gene for BP and also led to the first identification of a gene that causes deafness.  He will collect DNA and diagnostic information from one particular family, newly identified from this population, which has 25 known cases of persons with severe psychotic affective disorder, meeting the diagnosis of schizoaffective, bipolar type.  His goal is to identify a gene locus (or loci) which segregates in this family and to then follow this finding by study of unrelated SC and BP patients from this population.  He ultimately hopes to identify the biological, genetic origins of the severe, inherited psychotic disorders.

Program Area: MULTIPLE FOCUS AREAS\Schizophrenia/Schizoaffective

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