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DUAL DISCOVERIES OPEN THE DOOR FOR NEW RESEARCH

Dr. Heng Wang
 

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

 
 
 
 
 
 
 
 
 
 
 
 
 
 

 

 
 
 

 

 

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