Researchers at University of Tsukuba have elucidated the molecular pathogenesis of multicentric carpotarsal osteolysis (MCTO) ...
Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism by which brain cells die. A team led by scientists at the German research ...
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 ...
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Hope on the horizon for rare genetic eye diseases
From decoding hidden genetic mutations to testing novel treatments, scientists are making real progress against rare inherited eye diseases. These breakthroughs could mean earlier diagnoses, targeted ...
New clues from genetic research may help explain what causes the most common heart defect present at birth. Researchers at ...
In our earliest science lessons, we learned that anything denser than water sinks. The denser something is, the more easily it sinks. This is seen in people who are more muscular, because muscle is ...
Mutations in a gene known as CPD play a crucial role in a rare form of congenital hearing loss, an international team of researchers has discovered. Scientists from the University of Chicago, the ...
New clues from genetic research may help explain what causes the most common heart defect present at birth. Researchers in ...
Amanda LaValle was shocked to learn her daughter Iris is one of only six people on record to have been diagnosed with a rare disease Amanda LaValle When Amanda LaValle's daughter Iris Hope was ...
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