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This rare mutation destroys brain cells, scientists found the cause

Scientists have traced a devastating pattern of brain cell loss in a handful of families to a single, ultra-rare mutation that sabotages one of the brain’s key protective enzymes. The discovery not ...

Rare Variants in One Gene May Help The Body Burn Fat Instead of Storing It

Research shows that where fat is stored impacts cardiometabolic health, with visceral fat (generally around the organs and in ...
Medical Xpress

Rare mutation protects brain's immune cells from Alzheimer's disease

Rutgers neuroscientist Peng Jiang and his neuroscience colleague Mengmeng Jin have made a discovery they say could reshape how scientists think about Alzheimer's treatment. Their study, published in ...
Yahoo

This Rare Genetic Mutation Kills Brain Cells, And We Finally Know Why

Add Yahoo as a preferred source to see more of our stories on Google. Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism by ...
Medical Xpress

Rare TBX4 mutations reveal excess lung muscle behind childhood pulmonary hypertension

For families of children with rare diseases, the search for answers can be lonely, desperate and frustrating. Such is the case with pulmonary hypertension, or PH. Defined as high blood pressure in the ...
ascopubs.org

Integrating DNA Mutations and RNA Expression of Cancer Driver Genes in Asian Rare Cancers: A Pan-Cancer Analysis

Prediction of Anthracycline Benefit in Hormone Receptor–Positive, Human Epidermal Growth Factor Receptor 2–Negative Early-Stage Breast Cancer by the MammaPrint 70-Gene Signature for Patients Enrolled ...