A research team at Children’s Hospital of Philadelphia (CHOP) has developed an innovative computational tool offering researchers an efficient method for detecting the different ways RNA is pieced together (spliced) when copied from DNA. Because variations in how RNA is spliced play crucial roles in many diseases, this new analytical tool will provide greater capabilities for discovering…
‘Missing Mutation’ Found in Severe Infant Epilepsy
Researchers have discovered a “missing mutation” in severe infant epilepsy–long-suspected genetic changes that might trigger overactive, brain-damaging electrical signaling leading to seizures. They also found early indications that specific anti-seizure medications might prevent disabling brain injury by controlling epilepsy during a crucial period shortly after birth. “These are still early days, but we may be able to…
