This conference is focused on the genetics of common human conditions…..height, weight, diabetes, asthma, migraines, autism etc. This is a new area in the field of human genetics which was practically untouched until the Human Genome Project was completed in 2003.
Sam begins with a basic review of cytogenetics mechanisms and monogenic inheritance and looks at a few of the syndromes that are caused by problems which occur in each category.
Next comes an update on the Human Genome including new information which now indicates the known function of 80% of the 3,000,000,000 nucleotides plus a look and Coding DNA Genes and Non-Coding DNA Genes.
This lays the foundation for the main focus of the conference which is the genetics of common human traits and diseases. Now, with the information acquired from The Human Genome Project, we have a new tool: Genome-Wide Association Studies (GWAS). This tool provides a genetic understanding of common human disease variants and led to the discovery of the polygenes responsible for the common conditions.
Also included in the discussion of this “new genetics” is an overview and update on the status of personal genome evaluations and prenatal genome evaluations.
The conference concludes with an update on stem cells and their new medical applications. The focus is on induced Pluri-potent Stem Cells (iPSCs)—their discovery, impact and application.
Recorded in 2013
Conference Notes and PowerPoint Slides
- Basic Genetic Stuff (00:00:00 to 01:00:26)
- Chromosomes – Cytogenetics
- Monogenic Inheritance
- Genes And Genome
- ENCODE – ENCyclopedia Of DNA
- Genetics Of Common Human Traits And Diseases (01:00:26 to 01:24:24)
- Genomic Medicine: The New Era of Human Genetics
- Quantitative Traits and Polygenes in Common Diseases:
- GWAS – GenomeWide Association Studies ( New England Journal Med July 8, 2010)
- Copy Number Variants = Copy Number Polymorphisms
- GWAS Applications
- Your Personal Genome Evaluation and DNA Chip
- Stem Cells…..New Medical Applications (03:09:48 to 03:33:11)
- iPSCs Applications
- Career Paths in Genetics (03:33:11 to end)
(links to slides, documents, etc)