Child Language Doctoral Prog - Prncpl Study Genetic Disorders

Catalog description

This course explores the fundamentals of disease gene identification methods and tools that are effective to explore the genetic components of inherited disorders. Fundamentals of pedigree based genetic analyses will be covered, along with Mendelian and non-Mendelian inheritance patterns, gene mapping methods, population allele frequencies, heterogeneity, microarray expression, DNA sequencing, recent development in disease gene identification, online human genomic databases, genetic variations, pathogenicity and bioinformatic tools. Recent topics like gene editing, personalized medicine, and pharmacogenetics will be discussed. There will be at least 3 lab days to demonstrate DNA quantification, polymorphism, Sanger sequencing and bioinformatic tools like oligo design, prediction of pathogenicity of protein coding SNPs, and browsing human genome databases. Prerequisite: Consent of instructor.