What is the scope of medical genetics?
Scope. 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.
What comes after biomedical genetics?
Many careers relating to genetics are based in the health services, so employers tend to be hospitals, pharmaceutical companies and universities. However, opportunities within research institutes, food and drink companies, the health and beauty care industry, and consultancy companies are also available.
What are the 3 major fields of genetics?
Genetics may be conveniently divided into 3 areas of study:
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transmission genetics
Genetic transmission is the mechanism that drives evolution. DNA encodes all the information necessary to make an organism. Every organism's DNA is made of the same basic parts, arranged in different orders. DNA is divided into chromosomes, or groups of genes, which code for proteins.
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molecular genetics
Molecular genetics is the study of the molecular structure of DNA, its cellular activities (including its replication), and its influence in determining the overall makeup of an organism. Molecular genetics relies heavily on genetic engineering (recombinant DNA technology), which can be used to…
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population genetics.
Population genetics is the study of genetic variation within and among populations and the evolutionary factors that explain this variation. Its foundation is the Hardy - Weinberg law, which is maintained as long as population size is large, mating is at random, and mutation, selection and migration are negligible.
The Biomedical Genetics faculty is presently directing projects involving multiple academic centers and private industry to identify genes for several complex diseases including age-related macular degeneration and Alzheimer disease. The Section is also actively involved in research projects in substance abuse, sickle cell disease, membranous nephropathy, mental illness, longevity, and the Framingham Heart Study. Cancer genetics, Epigenetics and developmental genetics are a major focus of our research labs.
As a part of the educational component of our program’s mission, Biomedical Genetics offers a variety of opportunities for training leading to a Ph.D. in a genetics specialty including genetic epidemiology and molecular genetics. Our faculty teaches a variety of graduate level courses in medical genetics, genetics & genomics, genetic epidemiology, and addiction science on the Medical Campus.
For biomedical researchers both on campus and off, our program’s Molecular Genetics Core Lab provides services for DNA and RNA extraction, sequencing, genotyping and cell line cultures.
Medical Genetics in the Post Genome Era
Recent advances in information technology, statistical genetic methodology, molecular genetics and bioinformatics, aided by funding for the human genome project, have heralded discoveries about the pathogenesis of many rare genetic conditions such as cystic fibrosis, Huntington disease, and Duchenne muscular dystrophy. These technologies have also furthered our understanding of common disorders including breast cancer, Alzheimer disease, and atherosclerosis through studies of families segregating classically inherited forms of these disorders. However, the genetic basis of common diseases is still enigmatic. The reasons for this include phenotypic and genetic diversity, and complex (and poorly understood) interactions between genes and the environment. These issues are addressable by studying very large and well characterized populations for a wide array of genetic and other risk factors. Successful performance of such studies requires skills and experience integrated from multiple disciplines including genetic epidemiology, biostatistics, molecular genetics, systems biology and information technology. The Biomedical Genetics Section brings together specialists in all of these areas who, through individual as well as highly collaborative research programs, are working to find genes modulating risk and expression of diseases and other human traits. These genes are potential diagnostic/predictive markers and therapeutic targets.
Biomedical Genetics Today
Presently, the Biomedical Genetics Section constitutes the largest concentration of human genetics research at either the Medical School or Charles River Campus at Boston University and is among the best funded and regarded in the country. Indeed, the increased awareness and need to understand the relationship between the approximately 26,000 human genes and susceptibility to disorders of public health concern (including infectious disease) is expressed in the current panoply of projects, spanning a rang of research from molecules to populations. Our research is funded by the National Institutes of Health, Veterans Administration, private industry and non-profit foundations, and includes the following areas:
| Alzheimer disease | Age-related macular degeneration |
|---|---|
| B-Thalassemia | Cancer |
| Cataract | Chronic Traumatic Encephalopathy |
| Developmental genetics | Epigenetics |
| Huntington disease | Molecular transport |
| Neonatal Abstinence Syndrome | Parkinson disease |
| Drug Addiction | Membranous Nephropathy |
| Post-Traumatic Stress Disorder | Schizophrenia |
| Sickle Cell disease | Substance use disorders |
We attract graduate students from a wide array of Master’s and Ph.D programs throughout Boston University (e.g., molecular medicine, bioinformatics, epidemiology, genetics & genomics) to pursue dissertation research in our laboratories. Postdoctoral fellows find many opportunities for expanding technical skills and apprenticing for exciting careers in academic medicine and private industry. After you have browsed a bit, please feel free to contact any of the members of the faculty or trainees to get the inside story about our research and training programs or about our Information Technology capabilities and Molecular Genetics Core Laboratory services. We look forward to sharing out enthusiasm about our Section.
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