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 ...

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 ...

Thousands of previously “invisible” microproteins—tiny chains of fewer than 100 amino acids—can profoundly change human biology when mutated. A fundamental discovery is overturning decades of ...

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 ...

Add Yahoo as a preferred source to see more of our stories on Google. Scientists have pinpointed precise regions in the human genome where DNA is most likely to develop a mutation. At spots where RNA ...

The Biofisika Institute (CSIC, EHU) and several Basque institutions are studying CTNNB1 syndrome, a rare disease linked to alterations in the beta-catenin protein The study is led by Sonia Bañuelos, a ...

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 ...

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 ...