Personal Health

Scientists first to pinpoint a cause of pigmentary glaucoma

An international team of researchers has identified a gene responsible for the onset of pigmentary glaucoma, which may lead to new therapies for the condition. “People who traditionally we wouldn’t think of having glaucoma—young males in their 20s and 30s—are at particular risk for this form of the disease and of losing their vision,” said […]

Health Problems

Discovery of novel mechanisms that cause migraines

Researchers at CNRS, Université Côte d’Azur and Inserm have demonstrated a new mechanism related to the onset of migraine. They found how a mutation that causes dysfunction in a protein which inhibits neuronal electrical activity induces migraines. These results, published in Neuron on December 17, 2018, open a new path for the development of anti-migraine […]

Personal Health

Solving a medical mystery: Cause of rare type of dwarfism discovered

For children born with Saul-Wilson syndrome, and their parents, much of their lives are spent searching for answers. First defined in 1990, only 14 cases are known worldwide. And the cause of the syndrome—characterized by short stature, microcephaly (small head), hearing loss and early developmental delays—remained unknown. Today, these individuals have answers. “This is the […]

Personal Health

Stray proteins cause genetic disorders

The seizures typically begin in the first months of life. It often takes years, however, before those suffering from the rare glucose transporter type 1 (Glut1) deficiency syndrome obtain a correct diagnosis. If the disorder goes untreated, affected children experience developmental delay and frequently have neurological problems. Various defects in one gene underlie the syndrome. […]

Health Problems

Microvascular dysfunction—a common cause of heart failure with preserved pumping capacity

Microvascular dysfunction, or small vessel disease, can be an important cause of heart failure with preserved ejection fraction (preserved pumping capacity), according to an international team including researchers from Karolinska Institutet and AstraZeneca. Their study is published in The European Heart Journal. The results could play a crucial role in identifying people at risk for […]