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New DiscoveriesFebruary 11, 2011

Novel gene implicated in adrenal tumors and severe hypertension

Tobias J.E. Carling, MD, PhD (Damon Runyon-Doris Duke Clinical Investigator ‘10-‘13) and colleagues at Yale University School of Medicine, New Haven, identified novel genetic mutations that can give rise to tumors of the hormone-producing adrenal gland (aldosterone-producing adrenal adenoma) and severe hypertension (high blood pressure). By sequencing the genes from these tumors and comparing them to normal DNA, the researchers identified mutations in a potassium channel gene, KCNJ5.

New DiscoveriesFebruary 10, 2011

Clinical trial demonstrates efficacy of drug in treatment of pancreatic cancers

A team of researchers including David E. Lebwohl, MD (Damon Runyon Fellow ‘86-‘87), Novartis Oncology, Florham Park, New Jersey, reported the results of a Phase 3 trial demonstrating the efficacy of Everolimus/Afinitor in patients with pancreatic neuroendocrine cancer. The median progression-free survival was 11.0 months with everolimus as compared with 4.6 months with placebo, with limited side effects. As these patients have few treatment options, this finding is likely to be rapidly applied in the clinic.

New DiscoveriesFebruary 1, 2011

Altered cell metabolism linked to brain tumor development

Hai Yan, MD, PhD (Damon Runyon Scholar’05-‘07) of Duke University Medical Center, Durham, and colleagues, reported that levels of specific metabolites (products of metabolism) were altered by up to 50-fold in brain tumor cells containing mutations in the genes IDH1 and IDH2. Previous studies had identified these genetic mutations in brain tumors; this research links IDH gene mutation to changes in cancer cell metabolism. These findings suggest that IDH mutation could act as a biomarker for diagnosis and could also lead to new improved types of cancer therapeutics.

New DiscoveriesJanuary 19, 2011

New technique to view process in living cells

L. Stirling Churchman, PhD (Dale F. Frey Scientist ‘11, Merck Fellow ‘08-‘11) of the University of California, San Francisco, developed a new technique that allows the process of transcription (how the cell makes RNA from the DNA template) to be studied in living cells at high resolution. Using this technology, researchers will now be able to watch transcription as it is happening, leading to important insights into how genes are turned on and off. This is likely to have implications for the understanding of normal development as well as of cancer and other diseases.