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- Posted Thursday January 16, 2014
Patients at TGen's Center for Rare Childhood Disorders will benefit from Sunday's race
TGen sports the most runners and raises most money for children with medical disorders of any charity at 2014 P.F. Chang's Rock 'n' Roll Arizona Marathon
PHOENIX, Ariz. - Jan. 16, 2014 - The Translational Genomic Research Institute's (TGen) Center for Rare Childhood Disorders has raised the most money and will sponsor the most runners of any of the 13 charities in Sunday's 2014 P.F. Chang's Rock 'n' Roll Arizona Marathon.
More than 50 runners representing 16 children with rare, often undiagnosed medical conditions, have raised more than $54,000 for the TGen Center under the banner Rockin' for Rare Childhood Disorders.
One of the children being helped by TGen's Center is 3-year-old Emilia Crowell of Tempe, who has suffered since birth with lung disorders and an inability to gain weight and store fat. Her parents, Mary and David, will be running in Sunday's Half-Marathon. Emilia's team raised more than $15,000, the most of any under the TGen banner.
"My hope, long term, is that the funds raised through the P.F. Chang's event will enable TGen to help diagnose even more children with rare disorders," said Mary Crowell. "I'm very hopeful about the prospects of what TGen can offer other families in the future."
Dr. Vinodh Narayanan, the TGen Center's Medical Director, was the first doctor to note that all of Emilia's symptoms might be connected. Following whole-genome sequencing at TGen, in which the billions of letters in her genetic code were spelled out and analyzed, Emilia was found to have a mutation in the CAV-1 gene, which is key to creating the plasma membranes found in most cell types.
Simply knowing what might be the source of her disorders, her mother said, has opened the doors to medical specialists, including doctors at the National Institutes of Health (NIH), who can now zero in on how best to treat Emilia's conditions.
"We now know what to expect. We know she will have some heart and lung issues, as well as the inability to gain subcutaneous fat. It helps us focus on what needs to be our priorities," Mary Crowell said.
TGen's Center for Rare Childhood Disorders' mission is to address the needs of children suffering from rare diseases and disorders. Many of these children have no diagnosis. Often there is no name for the child's condition, just a collection of symptoms.
TGen uses advanced genetic sequencing technologies to track down the origins of disease, help establish diagnoses and recommend appropriate therapies.
Also participating in Sunday's P.F. Chang's event on behalf of TGen is 2013 Miss Arizona Jennifer Smestad, who overcame a childhood disorder. From 9-10 a.m., she will be at the TGen booth, near the race's Finish Line, near Ash Avenue and Rio Salado Parkway in Tempe.
To learn more about the TGen Center and how you can help, please visit www.helptgen.org/run4kids or contact Robyn Nebrich at [email protected] or 602-343-8638.
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About TGen
Translational Genomics Research Institute (TGen) is a Phoenix, Arizona-based non-profit organization dedicated to conducting groundbreaking research with life changing results. TGen is focused on helping patients with cancer, neurological disorders and diabetes, through cutting edge translational research (the process of rapidly moving research towards patient benefit). TGen physicians and scientists work to unravel the genetic components of both common and rare complex diseases in adults and children. Working with collaborators in the scientific and medical communities literally worldwide, TGen makes a substantial contribution to help our patients through efficiency and effectiveness of the translational process. For more information, visit:www.tgen.org.
Press Contact:
Steve Yozwiak
TGen Senior Science Writer
602-343-8704
[email protected]
