A newly discovered link between Parkinson’s disease and a mutation in the NUBPL, or “nucleotide binding protein-like” gene responsible for mitochondrial complex 1 deficiency could open to the door to more treatment options for children with the deficiency and, perhaps, expand understanding of Parkinson’s disease.
Dr. Virginia Kimonis, Professor, Division of Genetics and Genomic Medicine, Department of Pediatrics will join Peggy Eis, PhD, Founder and Chief Technology Officer of Population Diagnostics in a talk about this breakthrough and its implications for improved health at “Especially Beautiful 2,” a fashion event starring special needs children and teens. Models who face the daily struggles of rare disease will shine on the catwalk to raise visibility and funds for potentially life-changing research.
Especially Beautiful will benefit the Spooner Girls Foundation, which funds UC Irvine Health research toward treatments and a cure for Mitochondrial Complex I Deficiency. Spooner Girls Foundation was established by Rick and Cristy Spooner, who spent 14 years searching for a diagnosis to explain the physical challenges their daughters Calyn and Ryann faced. Dr. Kimonis used exome sequencing to identify the genetic variant, diagnosing the Spooner girls’ genetic condition as mitochondrial complex 1 deficiency in 2013.
Dr. Kimonis is actively involved in identifying new families with NUBPL associated disease also diagnosed by exome sequencing. UC Irvine provides unique resources to study the mechanism and translational aspects of this important mitochondrial disease.
Dr. Kimonis is collaborating with Dr. Gargus, and other investigators of CART, the Center for Autism Research and Translation, Dr. Christina Kenney and other mitochondrial researchers, the ICTS (Institute for Clinical Translational Science), and CIRM (California Institute for Regenerative Medicine) stem cell researchers at University of California Irvine and Children's Hospital of Orange County, Dr. Janneke Balk and Andrew Maclean, University of East Anglia, UK, clinicians and researchers across the globe, National Institute of Health, Population Diagnostics, and industrial partners. Indeed this research project is truly global.
Especially Beautiful takes place in conjunction with World Rare Disease Day, Thursday, Feb. 25. The event is 6 to 8:30 p.m., Axis Research & Technologies, 16662 Hale Avenue. Irvine, CA 92606. For more information, visit spoonergirls.com