Exchange between Brazil and Chile in medical genetics and speech pathology

• Grant number: 11/10734-6
• Support Opportunities: Research Grants - Visiting Researcher Grant - International
• Duration: August 23, 2011 - September 01, 2011
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Danilo Moretti-Ferreira
• Grantee: Danilo Moretti-Ferreira
• Visiting researcher: Maria Angelica Alliende Rodrigez
• Visiting researcher institution: Universidad de Chile, Chile
• Host Institution: Instituto de Biociências (IBB). Universidade Estadual Paulista (UNESP). Campus de Botucatu. Botucatu , SP, Brazil

Abstract

1. August 23: Working Meeting in IBB/Unesp: What are the best methods of diagnosing diseases gene to be deployed by the National Health Systems Brazil and Chile? 2. 24 DAYS TO AUGUST 26: Postgraduate Course - Special Topics: Actualización en el-Molecular cytogenetic diagnosis of diseases of the Genetics Graduate Program in Biological Sciences A/C: Genetics - IB Botucatu - Unesp DAY 1. Mañana: Clases de los theoretical basics y de la Genetics Cytogenetics clinic. Cytogenetic diagnosis of genetic afección them. Estructura y Función de los chromosomes Y alteraciones numerical karyotype Types of gangs y sus aplicaciones. Cambios estructurales: translocaciones, deletionists, duplicaciones, inserciones, inversiones. Ideogram. ISCN Nomenclature Afternoon: Bibliographic Discusión y trabajo con practical karyotype aberrations Mañana DAY 2: Classes theoretical about it as the tool would complement molecular biology la Cytogenetics Al methodologies applied molecular diagnostics FISH Syndromes microdeleciones y en rearreglos subtelomeric Test metilación en Prader Willi syndromes Angelman y Y PCR Southern blot in the diagnosis of fragile X syndrome FXTAS y MLPA CMTA1 y en HNPP Afternoon: Bibliographic Discusión y análisis of abnormal results Mañana DAY 3: Epigenetics y en Clases theoretical environmental factors favor pudieran la expresión of mutational deleterious. Genomic imprinting in the traditional y herencia. Enfermedades genetic variation among pupils that special requieren educación Responsable de enfermedades genetic mutational Test de detección of genotoxic Nutrigenomics Afternoon: Grupo de discusión: Nuevas perspectives detección, prevención y las enfermedades management of human genetics. 3. DAY 5, 6:08 SEPTEMBER:. Postgraduate Course - Special Topics: Communication Disorders in microdeletion syndromes of post-graduate studies in Speech Pathology - Marília FFC - UNESP DAY 1: Morning - What are they and how they occur in the syndromes microdeletion? Afternoon: The microdeletion syndromes: - Smith-Magenis syndrome. - Williams-Beuren syndrome. - Velocardiofacial syndrome - Prader-Willi - Syndrome of Charcot-Marie-Tooth DAY 2: Morning-How to diagnose microdeletion syndromes: Clinical Diagnostics Afternoon. How to diagnose microdeletion syndromes: Laboratory Diagnosis DAY 3: Morning - Communication disorders/language in microdeletion syndromes. Afternoon: How To study/investigate the disturbances communication/language in microdeletion syndromes? 4. DAY OF SEPTEMBER 7 Although it is a national holiday occurs Working Meeting between the group Genetics Unesp/Botucatu, UNESP Speech Pathology/Genetics and Marília INTA/Universidad de Chile on: How to implement actions to introduce and promote FONOGENÉTICA in Chile. 5. DAY OF SEPTEMBER 9 Transfer Marília - São Paulo - Santiago (AU)