UA SBRP investigator, Dr. Walt Klimecki presented a background summary of his lab’s automated, high throughput technology applied to Human Genetics. He specifically focused on his NIEHS SBRP work, which aims to fully characterize the genetic variability of all known genes involved in arsenic biotransformation in a diverse group of ethnically defined, globally collected human samples of arsenic-exposed individuals. During the presentation the following questions were discussed:
How much DNA Variation?
- We know that from human to human, DNA sequences are not exactly alike, but just how much difference exists?
Where in the gene is it?
- The location of DNA variation has tremendous significance relative to how that polymorphism could alter the gene’s function.
How population specific is it?
- Because of our remarkable history as a species, the global travels of humans over tens to hundreds of thousands of years allow people of certain ancestries to have patterns of DNA polymorphism that vary from those of other ancestries. Sometimes those differences are associated with protection from disease, sometimes with causing susceptibility to disease.
Is it associated with a phenotype?
- What are the “cutting edge” analytical methods that help researchers decipher the relationship between DNA sequence and “phenotypes” or those things that we can measure in humans like blood pressure, or arsenic metabolites in the urine of arsenic-exposed people.
How do we analyze these samples?
What are the latest technologies and laboratory automation that Dr. Klimecki’s lab uses to perform the millions of genetic tests that they do each year?
Dr. Walt Klimecki
The College of Medicine Research Office and the Dean’s Research Council sponsors Frontiers in Medical Research Seminars in effort to provide a venue for building faculty networks, identifying resources, and disseminating research findings in four research emphasis areas (cancer, neuroscience, diabetes, and cardiovascular biology).