- Posted Thursday February 28, 2013
Rare Disease Day aligns with new Center for Rare Childhood Disorders
Belnap family highlights TGen's progress in discovering genetic causes
PHOENIX, Ariz. - Feb. 28, 2013 - In recognition of the 6th international Rare Disease Day on Feb. 28, the Translational Genomics Research Institute (TGen) is highlighting its new Center for Rare Childhood Disorders (C4RCD).
As part of the day's awareness-raising activities, TGen is releasing a new video on its website, C4RCD.org, featuring an Arizona family with a rare mitochondrial disease, one of a class of neurological disorders that can lead to physical and cognitive disabilities by altering the function of the cell's powerhouse, or mitochondria.
"TGen's Center for Rare Childhood Disorders has given us the gift of a diagnosis. Even though, at present, there is no particular drug to adequately treat mitochondrial disease, it is still a blessing to finally confirm what is ailing our children," said Newell Belnap, who along with his wife, Becky, care for their children: Sydney, Spencer, Sierra and Seth.
The Belnap children had seen multiple doctors, but as Seth's condition continued to deteriorate, the test results remained inconclusive. After visiting with TGen investigators, the Belnap's left feeling confident.
"We no longer had to pursue a diagnostic odyssey," Becky said. "TGen had begun providing our family with answers."
Seth was the first of the Belnap children suspected of having the disorder, characterized initially by his slow growth, cognitive delays and propensity for falling. The Belnap's were baffled by Seth's condition, which was followed in time by mitochondrial disease symptoms experienced by Sydney and Spencer.
"The Belnap children were excellent candidates for whole genome sequencing," said Dr. Vinodh Narayanan, Medical Director of TGen's C4RCD. "Sequencing enabled us to discover a change in a particular gene associated with mitochondrial disease."
Dr. Narayanan put the Belnap's in touch with a specialist who has since put all of the Belnap children on a "mito cocktail," a combination of vitamins, antioxidants and supplements.
"Now that we know the genetic source of the disorder, we can initiate additional studies that may lead to new treatments for the Belnap's and other families," said Dr. David Craig, TGen's Deputy Director of Bioinformatics and Co-Director of TGen's C4RCD.
TGen's success thus far with the Belnap's is one more way to recognize Thursday's activities - across the nation, and in more than 60 countries across the globe - associated with Rare Disease Day and this year's theme, "Rare Disorders without Borders."
A disease or disorder is defined as rare in the U.S. if it affects fewer than 200,000 Americans. An estimated 80 percent of rare diseases likely have genetic origins. Others are the result of bacterial or viral infections, allergies or environmental causes. Nearly half of rare diseases affect children.
"In many of these cases, there is no name for the disease and even more rarely a known cause, only a collection of symptoms," said Dr. Matthew Huentelman, also Co-Director of C4RCD. "Through the efforts of the C4RCD, we're leveraging our genomic technologies to begin providing not only diagnoses, but also to highlight new treatment approaches that could substantially improve the quality-of-life for children and their families."
More than 6,000 identified rare diseases are characterized by a broad diversity of disorders and symptoms that vary not only from disease to disease, but also from patient to patient. Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment.
The lack of effective treatments and cures adds to the pain and suffering endured by patients and their families. Although rare disease patients and their families face many challenges, enormous progress is being made every day.
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The Translational Genomics Research Institute (TGen) is a Phoenix, Arizona-based non-profit organization dedicated to conducting groundbreaking research with life changing results. Research at TGen is focused on helping patients with diseases such as cancer, neurological disorders and diabetes. TGen is on the cutting edge of translational research where investigators are able to unravel the genetic components of common and complex diseases. Working with collaborators in the scientific and medical communities, TGen believes it can make a substantial contribution to the efficiency and effectiveness of the translational process. For more information, visit: www.tgen.org.
TGen Senior Science Writer
About Rare Disease Day
Feb. 28, 2013, marks the 6th international Rare Disease Day, coordinated by EURORDIS and organized with rare disease national alliances in 24 European countries. Hundreds of patient organizations from more than 60 countries and regions worldwide are planning awareness-raising activities converging around the slogan "Rare Disorders without Borders." Activities will take place across Europe, all the way to Russia, continuing to China and Japan, in the U.S. and Canada, and as far as Australia and New Zealand. For more information, visit: rarediseaseday.org.