Reaschers find a link between the Spooner Girl’s rare disease and parkinson’s.  

Scientists To Present Findings at Especially Beautiful: A Rare Fashion Event

Thursday, Feb. 25 – 6 pm – Axis Research & Technologies – Irvine

 

WHO:      Cristy and Rick Spooner spent 14 years searching for answers to a cruel mystery – what was the disease that affected two of their three children, rendering them unable to walk, talk or take care of themselves without help from adults?

Thanks to breakthroughs in genetic testing, the Spooners learned two years ago that daughters Calyn, 17, and Ryann, 6, have Mitochondrial Complex I Deficiency, an extremely rare disease caused by a mutation in their NUBPL gene. This launched the Spooners on a quest– to promote medical research to unlock the mysteries of the NUBPL gene. The family drew national attention following www.TheLifeWeLivedoc.com which documented the Spooners’ search for a diagnosis for Calyn and Ryann’s rare disease.

Today, that quest is bearing fruit. Dr. Peggy Eis, co-founder and Chief Technology Officer of Population Diagnostics, a gene discovery company based in New York which develops diagnostic tests and therapies for unsolved diseases, found that NUBPL gene mutations were present in a subset of patients with Parkinson’s Disease.

EVENT: Thursday, Feb. 25 at 5:30 pm. at AXIS Research & Technologies 16662 Hale Avenue, Irvine CA

WHY:       Link Between Gene and Parkinson’s May Open New Areas of Research to Treat Parkinson’s

Finding this link between the gene and Parkinson’s has the potential to open new areas of research and gene therapies to treat Parkinson’s, a debilitating disease which afflicts some five million people worldwide.

“We’re in an era of gene discovery. These findings are a wonderful example of the possibilities of precision medicine. It is the promise of the future,” said Eis, who is now collecting data on a larger number of Parkinson’s patients to determine how many have mutations in the NUBPL gene similar to those that affect the Spooner girls.

When you can connect a rare disease community with a common one, that provides more incentive for pharmaceutical companies to invest in research. As an example, another gene that has been definitively linked to an increased risk of Parkinson’s disease, the GBA gene, is now being extensively studied by all the major pharmaceutical companies in hopes of developing new drugs.

“It’s huge,” said Dr. Virginia Kimonis, a researcher at UC Irvine who diagnosed the Spooners’ rare genetic condition. Dr. Kimonis is seeking funding to determine whether mitochondrial defects caused by mutated NUBPL genes underlie the onset of Parkinson’s. “If we prove that many people with Parkinson’s have mutations in the NUBPL gene, it will be particularly powerful. It will open an important avenue of research.”

  • Virginia Kimonis of UC Irvine: latest findings about Mitochondrial Complex I Deficiency
  • Peggy Eis of Population Diagnostics: new research linking Parkinson’s and NUBPL Gene
  • Ambry Genetics: impact of genetic testing to unlock mystery of Spooner Disease
  • Fashion Show: Special needs children and teens who face rare disease will walk the catwalk

 

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