Schizophrenia is a chronic debilitating disorder which affects more than two million Americans, and millions more worldwide. While significant progress has been made in understanding the disease and developing treatments, there remains a significant unmet medical need. More than 50% of patients switch their medication in a given year due to either poor response or the experience of adverse events.
Ion channels that permit potassium and sodium ions to move in and out of cells are essential for the function of the brain and heart, and also for neuronal “firing” in the central nervous system.
During the developmental phase of brains, a number of moving parts occur—and if mutations occur during the early neurodevelopment, it can result in disorders such as autism and macrocephaly.
Researchers have shown that mutations in four distinct genes that lead to Kleefstra syndrome.
Bipolar disorder is estimated to affect around 1 to 4% of the population, but understanding the underlying genetics has proved a major challenge.