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Genetics of human communication disorders


1. Nov 23, 24 and 25 - Pos-graduated course - Special Topics of Pos-Graduated Program in Biological Sciences C/A Genetics – IBB-Unesp. Genetics of Human Communication Disorders. Day 1 Morning lecture:P rimer on Human Genetics Early history Mendelian inheritance Inborn errors of metabolism Medical genetics Chromosomes and cytogenetics Molecular biology DNA, RNA, and proteins Gene cloning and DNA sequencing Mutation identification Human molecular genetics Polymorphic DNA markers Linkage mapping Construction of human genetic linkage maps Construction of DNA physical maps Sequencing the human genome Disease gene finding Linkage scans and positional cloning Population-based association studies Bioinformatics Afternoon: Bioinformatics demonstration/tutorial - Computer based National Center for Biotechnology Information (NCBI) Human genome sequence browser Entrez, GenBank, BLAST Databases - nucleotide, genome, protein, structure, taxonomy MIM, PubMed Day 2 Morning lecture: New technologies in genetics and genomics Genotyping - SNPlex, Illumina, Affymetrix Linkage and association analysis Parametric and non-parametric linkage analysis – computational methods Issues in Genome-wide Association studies (GWAS) Sequencing - Solexa/Illumina, ABI SOLID Large-scale capture sequencing - Agilent, Comparative genomics Impact on understanding the architecture of complexdisease Afternoon: Group discussion: Case studies in Genome-wide Association Studies Papers to be assigned to students Day 3 Morning lecture: Genetics of Communication Disorders Overview of Human Communication Disorders Expressive and receptive deficits Voice, speech, and language Heritability estimates - twin, adoption, and family studies Mendelian vs. non-Mendelian inheritance Voice disorders Spasmodic Dysphonia Dyspraxia, the KE family, and the FOXP2 gene FOXP2 comparative and evolutionary studies Speech Disorders Stuttering Heritability estimates Family studies Linkage studies Recent results in stuttering linkage and positional cloning Afternoon: Group discussion: Emerging mechanisms in human genetics - Copy number variation, small RNAs, and beyond Papers to be assigned to students. 2. Nov 26 and 27: Research projects by Department of Genetics - IBB-Unesp discussion, propols of institutional partnership with interchange of professors/students, localization and possible grants resourchs. 3. Nov 30 and Dec 1: Conference "Stutturing and Genetics" to profissonals and studs of spech patology by FM-USP. Research projects by Fluency Lab of FOFITO - FM-USP discussion, propols of institutional partnership with interchange of professors/students, localization and possible grants resources. (AU)

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