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"Ever y t h ing we a re work ing on helps disease diagnosis, education and patient care," says Dr. Xin. "From these practices, we can learn more and use it to help others in need – both locally and worldwide." DDC Clinic now ser ves over 700 patients from 32 states and four foreign countries. "We want to get the word out that these genetic conditions do not affect the Amish only; anyone can be affected. We feel that the molecular diagnostics lab is certainly the way to go in order to serve more children and families in need," says Dr. Wang. Indeed, Dr. Wang and Dr. Xin have levera ged t heir ex per t ise t hrough DDC's lab and its enhanced capabilities, improving patient diagnosis rates from 22 percent in 2002 to 70 percent today. Since two thirds of genetic disorders are treatable – especially with early diagnosis – they are improving patients' lives, and sometimes even saving them, as well. High Tech Lab in a Low Tech Town In the past nine years, DDC's lab has developed more than 50 assays for rare genetic diseases, some of which are offered nowhere else in the world. Tests include both full gene analysis and targeted mutation analysis. Multiple gene panels, providing diagnostic tools not readily available to most physicians, are also being developed there. According to Dr. Wang, DDC's lab was the first clinical genetics lab in Ohio to offer both platforms of FDA-cleared high-tech in vitro diagnostic (IVD) tools: a high definition chromosomal microarray analysis (CMA), and next generation sequencing (NGS) systems. CMA allows testing for a wide range of genetic disorders with a single test. Far more sensitive than older meth- ods of chromosomal analysis, CMA is now recommended by the American College of Medical Genetics as the "first tier" test for genetically-linked cog nitive disabilities. DDC Clinic utilizes the CytoScan HD platform, with 2.6 million probes for detecting chromosomal abnormalities. The DDC team's experience with these high end systems and their many years of research and diagnostics exper- tise, along with their quick turn-around of test results (days, instead of weeks) have attracted the attention of physi- cians and scientists from across the U.S. and from Canada, Australia, Europe, Asia and South Africa, as well. Dr. Wang says the next step toward helping even more patients is to foster new relationships with other institu- tions. "We really take our inspiration from local families. These families want to help their own children, but they also want to help others through their own participation in research. Likewise, we want to serve people here in our own backyard, but we also want to serve a wider group of people. We know that we are more likely to be able to do this by partnering with major medical institutions." Locally, DDC Clinic is working closely with Akron Children's Hospital, Case Western Reserve University School of Medicine, and University Hospitals of Cleveland. They have also established collaborations with National Institutes of Health, Johns Hopkins University School of Medicine, Oklahoma Medical Research Foundation, UCL A, Wake Forest University School of Medicine and institutions in Belgium, France and China. "We want to enhance the quality of life for people with special needs caused by rare genetic disorders – no matter where they live" says Dr. Wang. "And by growing collaborations, we vastly leverage our collective impacts." For more inf or mat ion about DDC C l i n i c f o r Sp e c i a l Ne e d s C h i l d r e n and it s Molec ular D iag nost ic s Lab, visit www.ddcclinic.org/laborator y or call 440-632-1668. ■ Baozhong Xin, PhD Located in the heart of Amish country, just 30 miles east of metropolitan Cleveland, DDC Clinic offers family-centered specialized health care and education, pioneering research to unlock transformational medical information, and diagnostic testing for rare genetic diseases. COV ER FE AT UR E PHOTOS COURTESY OF DDC CLINIC 8 | Cleveland/Akron/Canton MD NEWS ■ M D N E W S . CO M ■ N OV E M B E R / D E C E M B E R 2 0 1 4