CAP TODAY Pathology/Laboratory Medicine/Laboratory Management
May 2016—The Spooner Girls Foundation, which funds research toward treatments and a cure for mitochondrial complex I deficiency, along with the University of California Irvine School of Medicine and Population Diagnostics, announced a collaborative research initiative focused on the NUBPL gene. The Spooner family’s decision to go public with their efforts to help their daughters and other patients diagnosed with mitochondrial complex I deficiency, an extremely rare disease caused by mutations in the NUBPL gene, has led to this groundbreaking collaboration.
PDx’s proprietary gene discovery platform has revealed an NUBPL mutation that is believed to be linked to Parkinson’s disease. Current data indicates that two NUBPL mutations need to be present in order to cause complex I deficiency, while the presence of only one NUBPL mutation may increase the risk for development of Parkinson’s disease.
Population Diagnostics, 516-316-5895