Genetics of complex disorders: from epidemiology to stem-cells models of reproductive ageing

Abstract

This is an application for financial support to permit Peter Pearson, a visiting professor on extended stay, to continue his research, teaching and coordination activities at the Department of Genetics and Evolutionary Biology, IBUSP. Professor Pearson retired in the Netherlands where he was head of two Human Genetics Department (Universities of Leiden and Utrecht). Among his many countless activities in Human Genetics, he has direct two major online databases, the Genome Database ( GDB - http://www.gnu.org/software/gdb/documentation/) and OMIM (Online Mendelian Inheritance Database- http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim), both hosted at Johns Hopkins University, where he has been a Professor in Genetics for several years, and his acquired experience in building and managing databases have been especially valuable to our Department. Prof. Pearson has already coordinated two graduated courses at the IB-USP and, besides his primary area of interest (genetics of female fertility), he has provided scientific input to several ongoing projects in the Department, which resulted in main or co-authorship of 10 papers. He is now organizing, together with Dr Angela Morgante (IB-USP), an international workshop on X-Linked Mental Retardation, which is due to occur in September 2009 (Praia do Forte, BA). His primary activity in the coming year will be co-directing the newly established financed National Institute of Science and Technology of Stem Cells in Human Genetic Disease (http://www.cnpq.br/programas/inct/_apresentacao/inct_doencas_geneticas.html) (CNPq/FAPES). This inct is associated with the CEPID - Human Genome Research Center (http://genoma.ib.usp.br/), and hosted by the Institute of Biosciences, University of Sao Paulo. Professor Mayana Zatz, the applicant of this grant, is the director of both centers. Other already ongoing activities of Prof Pearson include: (1) further developing and teaching a course for post graduates on "English for Scientists"; (2) carrying on with lines of research activities into human female reproductive ageing, with the emphasis on the impact of the fragile-X gene repeat size on ovarian ageing in collaboration with Professor Angela Morgante, and; (3) an epidemiological study into female fertility in a French Canadian population in collaboration with Professor Paulo Otto. In addition, a new research topic is proposed within the context of this National Institute of Science and Technology of Stem Cells in Human Genetic Disease activities, and involves studying the ageing and differentiation potential of adult stem cells relative to genetic background differences between donors. (AU)