Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). Genetic medicine is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine. Medical genetics encompasses many different areas, including clinical practice of physicians, genetic counselors, and nutritionists, clinical diagnostic laboratory activities, and research into the causes and inheritance of genetic disorders. Examples of conditions that fall within the scope of medical genetics include birth defects and dysmorphology, mental retardation, autism, … Continue reading →

What is a Gene? Look closely at the chromosomes and you'd see that each is made of bundles of looping coils. If you unraveled these coils, you'd have a six-foot long double strand of deoxyribonucleic acid-DNA. A more+ How Do Genes Work? Genes are often called the blueprint for life, because they tell each of your cells what to do and when to do it: be a muscle, make bone, carry nerve signals, and so on. And how do genes orchestrate more+ Why We are Different Biologists use two fancy words to describe the relationship between your genes and your physical traits. The first word is genotype. Your genotype is your genes for a given trait. In most cases, more+ Mutations and Disease DNA is constantly subject to mutations, accidental changes in its code. Mutations can lead to missing or malformed proteins, and that can lead to disease. We all start out our lives with some more+ Genetic Testing Have you ever had your genes tested? Probably not. DNA testing is still pretty limited, although it is becoming more and more common, especially for fetuses and newborns. Many prospective parents, more+ Making Medicines Not long ago, if you were diabetic, … Continue reading →

The information in genomes provides the instruction set for producing each living organism on the planet. While we have a growing understanding of the basic biochemical functions of many of the individual genes in genomes, understanding the complex processes by which this encoded information is read out to orchestrate production of incredibly diverse cell types and organ functions, and how different species use strikingly similar gene sets to nonetheless produce fantastically diverse organismal morphologies with distinct survival and reproductive strategies, comprise many of the deepest questions in all of science. Moreover, we recognize that inherited or acquired variation in DNA sequence and changes in epigenetic states contribute to the causation of virtually every disease that afflicts our species. Spectacular advances in genetic and genomic analysis now provide the tools to answer these fundamental questions. Members of the Department of Genetics conduct basic research using genetics and genomics of model organisms (yeast, fruit fly, worm, zebrafish, mouse) and humans to understand fundamental mechanisms of biology and disease. Areas of active investigation include genetic and epigenetic regulation of development, molecular genetics, genomics and cell biology of stem cells, the biochemistry of micro RNA production and their regulation of gene expression, and genetic … Continue reading →