The Department of Human Genetics is the youngest basic science department in the Geffen School of Medicine at UCLA. When the Department was launched just prior to the sequencing of the human genome, it was clear that the practice of genetics research would be forever changed by the infusion of massive amounts of new data. Organizing and making sense of this genomic data is one of the greatest scientific challenges ever faced by mankind. The knowledge generated will ultimately transform medicine through patient-specific treatments and prevention strategies. The Department is dedicated to turning the mountains of raw genetic data into a detailed understanding of the molecular pathogenesis of human disease. The key to such understanding is the realization that genes not only code for specific proteins, but they also control the temporal development and maturation of every living organism through a complex web of interactions. Housed in the new Gonda Research Center, the Department serves as a focal point for genetics research on the UCLA campus, with state of the art facilities for gene expression, sequencing, genotyping, and bioinformatics. In addition to its research mission, the Department offers many exciting training opportunities for graduate students, postdoctoral fellows, and medical residents. … Continue reading →

University of Illinois at Chicago College of Medicine DEPARTMENT of MOLECULAR GENETICS INTRODUCTION Organization of the Course Required and Optional Texts General Introduction MENDELIAN INHERITANCE General Background categories of genetic diseases population frequencies modes of inheritance Mitosis and Meiosis Meiosis and Gametogenesis Pedigree Construction Modes of Inheritance autosomal dominant inheritance heterozygous affected phenotype hallmarks Punnett square pedigree variable expressivity late onset high recurrent mutation rate incomplete penetrance autosomal recessive inheritance introduction hallmarks carrier probabilities in a pedigree effects of consanguinity X-linked dominant inheritance hallmarks Punnett square pedigree lethality in males X-linked recessive inheritance pedigree Punnett square hallmarks Bayesian probability new mutations in genetic lethals sex limited inheritance mitochondrial inheritance Imprinting CHROMOSOMAL INHERITANCE Importance Karyotype Chromosome Replication Autosomal Chromosomal Abnormalities meiotic nondisjunction mitotic nondisjunction Robertsonian translocation isochrome formation Sex Chromosome Abnormalities Lyon hypothesis Barr bodies Turner syndrome Klinefelter syndrome XYY and XXX syndromes Non-Meiotic Chromosome Abnormalities Inversions Ring Chromosomes Translocations (non-Robertsonian) Uniparental Disomy MULTIFACTORIAL INHERITANCE Importance Regression to the mean Polygenic Inheritance The Multifactorial Model Concordance Threshold Model of Disease Degree of Relationship and Genes in Common Two Threshold Diseases Severity of Disease and Recurrence Risk Multiple Affected Offspring and Recurrence Risk Consanguinity Hallmarks of Multifactorial Inheritance LINKAGE AND MAPPING Introduction … Continue reading →