Technology Helps Provide Insights to Rare Disease

Vector Blog of Children’s Hospital Boston recently family’s experience with a very rare neurological condition called Microcephaly (small head size) with Seizures (MCSZ). The disease had never been seen outside of the Middle East, but researchers at Children’s Hospital Boston were able to connect the dots and find the genetic mutation that causes the condition. Two of the family’s four children were diagnosed with MCSZ; by the time their fifth child was on the way, Children’s was able to test the fetus for the genetic mutation, which it did not have.