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Scientists Studying Hereditary Condition Win Nobel Prize

Dr. William G. Kaelin, Jr., Sir Peter J. Ratcliffe, and Dr. Gregg L. Semenza won the 2019 Nobel Prize in Physiology or Medicine for their work related to a genetic condition called von Hippel-Lindau syndrome (VHL). VHL is a hereditary cancer syndrome that is associated with an increased risk for cancerous and benign tumors in the brain, spinal cord, eyes, inner ears, kidneys, adrenal glands, pancreas, and genital tract.

The award was given to these physician-scientists for their discovery in how cells sense and adapt to low levels of oxygen. VHL was an integral part of this discovery as it served as a model to look at abnormal cells. The researchers showed that a functioning VHL gene is needed to help regulate oxygen within a cell. A missing or mutated VHL gene impacts genes involved in oxygen regulation. This was an important clue showing that VHL was somehow involved in controlling responses to hypoxia. Because oxygen sensing is central to a large number of diseases, many efforts are now focused on developing drugs that can interfere with different disease states by either activating or blocking the oxygen-sensing machinery.

The Nobel Prize committee reports that the recipients’ research “established the basis for our understanding of how oxygen levels affect cellular metabolism and physiological function. Their discoveries have also paved the way for promising new strategies to fight anemia, cancer and many other diseases.”

To see the presentation that Dr. Willian G. Kaelin, Jr. gave titled “The von Hippel-Lindau Tumor Suppressor Protein: Insights into Oxygen Sensing,” click here.