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2020 Pilot Awards for Global Brain Health Leaders (GBHI)

Brain Volume and Diffusion Changes in Presymptomatic Familial Prion disease

Ophir Keret, M.D.
Rabin Medical Center, Beilinson Hospital
Petah Tikva, Israel



Studies suggest that biological brain changes associated with Alzheimer’s may begin a decade or more before the clinical symptoms, such as changes in memory, thinking and reasoning appear. Dr. Ophir Keret and colleagues will study Israeli Libyan Jews, a population known to be carriers of a genetic variation in the PRNP gene (a gene that provides instruction for making a specific protein called prion protein, found throughout the body). When this genetic variation is passed from parent to child, it is known to be one of the most common causes of a rapidly progressive form of dementia called Familial Jakob-Cruezfeld disease (fJCD). The researchers will leverage a prior study that has carried out brain scans of these individuals and will use the scans to quantify the level of brain changes observed in these individuals. Dr. Keret believes that this study may help estimate the risk of developing dementia associated with the amount of brain changes observed in these scans. If successful, the study may inform new learnings regarding fJCD and to help in planning of larger clinical trials as well as may have broad implications for other brain diseases.

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