Title: Assistant professor, University of North Carolina, Chapel Hill
Education: PhD, University of North Carolina, Chapel Hill, 2001
Recommended by: Jim Evans, University of North Carolina, Chapel Hill
As a clinical geneticist, UNC's Jonathan Berg spends half of his week treating patients with a range of genetic disorders and the other half in his lab, where he is refining diagnostic approaches so that his patients can better benefit from technologies like whole-genome sequencing. His goal is to pinpoint the fundamental genetic etiology for a particular patient's cancer and tailor therapies accordingly.
Berg says that his journey to clinical genetics took a rather circuitous route. "I've always been interested in science, but I didn't actually go to medical school thinking I would go into clinical genetics," Berg says. "I did a rotation with some folks in the cancer genetics field and really got intrigued with the idea that one could derive some fundamental information about people and inform their medical care." Berg completed his residency training in genetics at Baylor College of Medicine, where he was exposed to some of the most cutting-edge genomics-based diagnostic approaches of the time.
Berg says that he hopes his feedback-loop style of having the clinic inform his research and his research inform his clinical approach will eventually lead to a fully integrated genomics approach that could provide physicians with tools for consistently accurate diagnosis. "Five to 10 years from now, I hope that any patient with an unsolved medical problem could have a genome sequence done and that it would be routine in work-ups of people whose medical conditions are unknown," he says. "I think that's a reasonable time frame — certainly the sequencing technology will be there and the cost would be in a reasonable range by then."
Publications of note
In 2008, Berg published a paper in Genetic Medicine that he says inspired him to incorporate genome-wide diagnostics in the clinic. In it, his team describes using arrayCGH to identify 14 individuals from eight families that harbored microduplications within the 22q11.2 region. Before this research was published, only a small number of patients with 22q11.2 microduplication had been identified.
And the Nobel goes to ...
Berg would rather win for advancing patient care than for a scientific discovery. "I think science is important ... but I would really like to make significant advances in terms of making patient care move forward," he says.