Prize-Winning Variation
Harvard Medical School professor Charles Lee has been awarded the 2008 Ho-Am Prize in Medicine for his discovery of unexpected variations in the human genome, according to the Broad Institute.

Established in 1990, the prize is awarded annually to scholars of Korean origin for their work in one of five disciplines, which range from community service to science. Lee, who at 38 is the youngest to receive the medicine prize, will also be awarded with around $200,000 at the ceremony in Seoul this June.

Lee’s work in human genetics identifies copy number variation, a phenomenon that occurs when DNA segments are missing or duplicated. His findings proved that contrary to the prevailing notion that human genomes differ by less than 0.1 percent, there is actually significant variation, with hundreds of DNA sequences that are different.

It is now estimated that copy number variation accounts for more than 18 percent of the human genome.

“Charles is one of the world’s leading scientists studying copy number variation in the human genome—a field he helped create with a seminal paper in 2004,” David M. Altshuler, director of the Program in Medical and Population Genetics at the Broad Institute, said in a statement. “We are thrilled at this well-deserved honor.”

Meet TG101348
Harvard researchers have used a designer drug to successfully treat blood cancer in mice, and it is moving quickly toward the marketplace, the scientists announced earlier this month.

The drug—now going by the mellifluous label TG101348—attacks a mutated protein that induces growth of the cancerous blood cells that fuel so-called myeloproliferative diseases, which afflict about 100,000 people in the United States, according to a press release from the Harvard-affiliated Brigham and Women’s Hospital, where the study was conducted.

The hospital wrote that, based on the success in mice, associate professor Richard M. Stone is launching phase I clinical trials in patients at the Dana-Farber Cancer Institute to determine whether humans can safely use the drug.

The researchers were optimistic that the drug would clear regulatory hurdles, given the reported lack of toxic effects in the mouse trials.

“A betting person would be excited about this,” Stone said in the release.

Iron Genes
A gene that causes a rare form of hereditary iron deficiency may help researchers understand iron deficiency that cannot be treated by iron supplements, according to a study by researchers at Harvard-affiliated Children’s Hospital in Boston.

While most cases of iron deficiency—the leading cause of anemia—are treatable with oral iron supplements, there has always been a cohort of children who did not respond at all to oral treatments and only poorly to intravenous ones.

The cause of this condition—which doctors termed iron-refractory iron-deficiency anemia (IRIDA)—remained unknown because the children all had good diets and none had any other complicating conditions.

Two researchers—Mark Fleming of Children’s and Nancy Andrews, formerly of Children’s and now dean of Duke Medical School—found that the cause of the inability to respond to oral iron supplements is mutations in a gene called TMPRSS6.

The study shows that IRIDA may reflect more extreme mutations of the TMPRSS6 gene, which indicates that there may be a genetic basis for IRIDA.

The findings, which were published in the journal Nature Genetics, was sponsored by the National Institutes of Health.

For recent research, faculty profiles, and a look at the issues facing Harvard scientists, check out The Crimson's science page.