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Middlefield, Ohio, December 14, 2009 -- Researchers at
DDC Clinic for Special Needs Children have identified a new disease,
one never previously described in medical literature, and also
discovered the gene associated with the disease. The study will
appear in this week’s early online edition of the journal
Proceedings of the National Academy of Sciences.
Dr. Heng Wang, a physician scientist at DDC Clinic, identified the
new disease five years ago in patients from the Old Order Amish
community in northeast Ohio, the fourth largest Amish settlement in
the United States. The disease is characterized by unusual facial
appearances, bone abnormalities and mental retardation. Once the
disorder was identified, human genome mapping technology was used to
discover that the gene TMCO1 was responsible for this novel
condition. This is the first report of TMCO1 sequence variants being
associated with a genetic disorder in humans. Since this disease had
never been previously described, the research team gave it the name
TMCO1 defect syndrome.
“The clinic’s unique position as the primary care facility for the
patients has allowed us to continually observe them and collect
essential information for the disorder while providing medical
services,” said Dr. Wang. “We anticipate that this work and future
translational research of this condition will enhance our
cost-effective medical home for these patients. In addition, this
work will provide an opportunity for early diagnosis through genetic
counseling for the high risk families and newborn screening.”
The study is an important contribution to the body of knowledge
about the TMCO1 gene and opens the door to a new field of study
about the role of this gene and its function. Dr. Wang is senior
author, and Dr. Baozhong Xin, a research scientist of DDC Clinic, is
lead author on the study. Researchers from The Clinic for Special
Children of Pennsylvania and Cleveland State University also
contributed to the study.
The identification of the disease is welcome news to the local
community. The mother of a daughter who passed away from this
disease described her excitement about the clinic’s findings. “For
28 years, we didn’t know what was wrong with our daughter. Imagine
living all those years with unanswered questions; imagine not
knowing what was wrong with your child. Having a diagnosis, knowing
what’s wrong, is half the battle. Knowing helps you live with it.
Now maybe there is something that can be done in the future to help
children with this disorder.”
The study was supported in part by The Elisabeth Severance Prentiss
Foundation, The Reinberger Foundation, and the Leonard Krieger Fund
of the Cleveland Foundation.
more About DDC Clinic
The mission of DDC Clinic is to enhance the quality of life for
people with special needs caused by rare genetic disorders. Since it
began providing medical services in 2002, DDC Clinic’s achievements
have been widely recognized. The clinic received the 2006 American
Academy of Pediatrics Special Achievement Award and the 2007 Johnson
& Johnson Community Health Care Crystal Award. DDC Clinic was also
the recipient of the 2007 Northern Ohio Live Award of Achievement in
Health and Medicine and the Excellence Award in Community Service
and Medicine from The United States Pan Asian Chamber of Commerce.
For more information on DDC Clinic call 440-632-1668 or visit the
website at www.ddcclinic.org.
Contact
Darla Klein, Executive Director
DDC Clinic for Special Needs Children
14567 Madison Road,
Middlefield Ohio 44062
440.632.1668
darla@ddcclinic.org |
