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- Posted Wednesday February 26, 2014
Rare Disease Day: Arizonans benefitting from TGen research
Center for Rare Childhood Disorders is just one of many TGen battlefronts
PHOENIX, Ariz. - Feb. 26, 2014 - In accord with
this week's 7th annual World Rare Disease Day, Arizonans and
patients from throughout the nation and around the globe are
benefitting from rare disease research conducted by the non-profit
Translational Genomics Research Institute
(TGen).
TGen's use of genomic sequencing is helping discover the genetic
basis for uncommon and often unidentified medical conditions,
transforming patients and their families by providing hope and
answers.
For example, TGen's Center for Rare Childhood Disorders is on the
frontline in the battle to provide diagnosis for children whose
medical conditions are often just a collection of symptoms; whose
conditions are so rare they often don't even have a name.
One of the children 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. TGen sequencing
located a gene, CAV-1, that might be at the heart of her
disorder.
"My hope, long term, is that TGen will help diagnose even more
children with rare disorders," said her mother, Mary Crowell,
adding that simply knowing what might be the source of Emilia's
disorders has opened the doors to medical specialists. "I'm very
hopeful about the prospects of what TGen can offer other families
in the future."
TGen also is active in many other rare disease research areas,
especially in cases of rare cancers, such as adrenocortical
carcinoma (ACC), a cancer of the adrenal gland, or in chronic
diseases such as cystic fibrosis, which affects the lungs, and is
being studied by TGen's Pathogen Genomics Division.
"I'm so thankful for TGen and their clinical trials, and
especially for the hope that it offers future patients," said
pancreatic cancer patient Pam Ryan of Phoenix, a participant in an
international clinical trial supervised by TGen for a drug,
Abraxane. As a result of TGen's work, the FDA recently approved
Abraxane as a frontline treatment for patients with advanced
pancreatic cancer.
"Like going to the moon, we at TGen choose to tackle the difficult
challenges presented by rare diseases, not because they are easy,
but because they are hard; because those patients need us to commit
the best of our energies and skills," said Dr. Michael Berens, TGen
Deputy Director for Research Resources. "It is a challenge we are
unwilling to postpone, and - like going to the moon - it is a race
we intend to win."
World Rare Disease Day, Feb. 28, is intended to raise awareness
for rare diseases and improve access to treatments and medical
representation for individuals with rare and genetic diseases and
their families.
A disease or disorder is defined as rare in the U.S. if it affects
fewer than 200,000 Americans. Collectively, they affect 1 in 10 in
the U.S., or about 30 million people, and 300 million people
globally.Nearly half are children. There are more than 7,000
distinct rare diseases, with nearly 80 percent caused by faulty
genes.
TGen uses the latest technology to find out everything possible
about a patient's genetics. Our researchers use that information to
provide patients, their families and their doctors with the best
medical options for their unique illnesses.
It is now possible at TGen to sort through the billions of
molecules that make up each patient's genome. By identifying the
exact differences in each patient's cells, TGen's precision
medicine enables doctors to prescribe new drugs that target those
cells, and avoid harmful side effects.
Precision medicine, also known as personalized medicine, is made
possible through machines with ever-more-precise camera optics and
ever-faster, data-rich computers. TGen's sequencing machines are
able - in a matter of hours - to spell out, in order, the billions
of chemical letters that make an individual's DNA, and other
elements of their genome.
TGen's precision medicine enables doctors to direct the most
appropriate medicine or medical technology to specific patients
based on the unique characteristics of those patients, providing
them with the best possible outcomes.
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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]