Updating on fragile X syndrome: diagnostics, neuropathology and future therapies
Fragile X syndrome (FXS) is the commonest inherited form of intellectual disability among men and an important cause of autism spectrum. It is due to the loss of function of the FMR1 (fragile messenger ribonucleoprotein 1) gene. Since the cloning of the gene almost 35 years ago, there has been a pronounced development in the field in understanding the molecular pathogenesis of the disease and the roles of the FMR1-encoded protein, FMRP. Although at present there are no approved therapeutics specifically aimed at patients with FXS, preclinical studies and ongoing clinical trials raise hope for families. This conference aims to review and update the diagnostics of FXS and its neuropathological mechanisms, and to inform on potentially translatable therapies currently under study. Videoconferência internacional, síncrona a ser transmitida pelo youtube É fundamental fazer sua inscrição enviando um e-mail para haddadL@usp.br. O link de acesso será disponibilizado após a inscrição.
Autores : Asma Boulksibat , Carole Gwizdek , Luciana A. Haddad- Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
- Instituto de Biociências - Laboratório de Genética Humana
- Agência USP de Cooperação Acadêmica Nacional e Internacional (AUCANI) da Universidade de São Paulo - USP
- Consulado Geral da França em São Paulo
Enviado pela conta: evento18