Dr. Kimonis is privileged to serve as a clinician Scientist in the Division of Clinical and Biochemical Genetics, UC Irvine and CHOC. She received her medical degree from Southampton Medical School, UK and completed residencies in pediatrics and general practice in the UK before moving to the US. She completed a residency in pediatrics at Massachusetts General Hospital, Boston and fellowship training in clinical and biochemical genetics at the National Institutes of Health, Johns Hopkins and Washington D.C. Children’s Hospital. Prior to her move to UC Irvine in 2006, she worked at Boston Children’s Hospital and Southern Illinois University School of Medicine. She is board certified in Clinical Biomedical Genetics, Clinical Genetics and Pediatrics.
Dr. Kimonis’ NUPBL research includes creation of a conditional knockout mouse in which researchers inactivate or “knock out” an existing gene specifically in the brain of the mouse. Knockout mice are important animal models for studying the role of genes which have been sequenced but whose functions have not been fully determined. We predict this loss of the gene activity will causes changes in the mouse’s appearance, brain structure, behavior and other observable physical and biochemical characteristics. Since we still do not fully know what the NUPBL gene does this type of research is the best option for observing differences from normal behavior or brain activity,. The mouse model will accelerate new treatments for patients with NUPBL disease and other more common disorders.
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Virginia Kimonis, MD
Especially Beautiful Fundraising Update
NUBPL is a “rare” mitochondrial disease. Research activities represent hope for the lovely Spooner girls and others with this rare condition. In fact, the field of clinical genetics represents a promising pathway to new and better treatments for many rare diseases. And, what this means is that every child with NUBPL disease today has a reason to hope. Nothing is more thrilling than to successfully slow or treat a disease.
With the funds we have completed the following studies:
Phase 3 ($ 20,000 raised from the Especially Beautiful event in 2016)
Phase 4— (Goal $ 50,000)
Because the specific Spooner c.311T>C (p.L104P) gene mutation is a severe mutation it is possible that introducing this gene mutation will also be lethal in animals,
The more we connect with other NUBPL families, the closer we get to finding a cure. Do you have NUBPL or do you think you may? Or, are you a researcher who is interested in studying NUBPL? Please contact us. We want to hear from you. Although some families are public about their journey, we respect your desire for privacy.