Caracterization of the proteic interactoma of the pluripotency factor L1TD1 in cen...
| Grant number: | 16/50021-2 |
| Support type: | Regular Research Grants |
| Duration: | June 01, 2016 - May 31, 2018 |
| Field of knowledge: | Biological Sciences - Biology |
| Cooperation agreement: | University of Southampton |
| Mobility Program: | SPRINT - Projetos de pesquisa - Mobilidade |
| Principal Investigator: | Oswaldo Keith Okamoto |
| Grantee: | Oswaldo Keith Okamoto |
| Principal investigator abroad: | Rob M. Ewing |
| Institution abroad: | University of Southampton, England |
| Home Institution: | Instituto de Biociências (IB). Universidade de São Paulo (USP). São Paulo , SP, Brazil |
| Associated research grant: | 13/08028-1 - CEGH-CEL - Human Genome and Stem Cell Research Center, AP.CEPID |
Abstract
The Human Genome Research Center (HGRC-CEPID I) was initiated in 2000 with the main goal of increasing our basic knowledge and diagnosis of prevalent genetic diseases in the Brazilian population. The HGRC concentrated largely on Mendelian disorders, mainly neuromuscular, craniofacial, and mental disability. The scope was expanded in 2005 by incorporating stem-cells research, both as a tool to understand gene expresssion and dfiferentiation in genetic disorders and to evaluate its potential in disease therapy. Our research has allowed us to address questions on the genetic regulation of particular complex disorders such as autism and various neurodegenerative diseases. However, the unanticipated complexity of the transciptional mechanisms regulating gene expression in humans that emerged from the Human Genome Project, and the modest advances in improving the effectiveness of genetic health care have opened new fields of investigation. In this CEPID application, we have expanded the scientific breadth to include ageing and degeneration and how factors such as genome instability contribute to the aging process; the role of imprinting mechanisms on disease manifestation; which factors determine differences in the rate of brain degeneration between individuals, which constitutes a rapidly increasing health care burdon as the average life-span of the world population rises; what determines phenotypic variability between individuals carrying the same mutation (...). (AU)