Research Collaboration Finds Answers

December 15, 2021

For the past several years, our clinic has collaborated with one of the world’s largest genetic research centers on an important project that has significantly impacted the lives of many of our patients.

In 2016, Regeneron Genetics Center (RGC) invited DDC Clinic to participate in a multi-year, large-scale research project involving whole gene sequencing of human DNA samples to determine the genetic factors that cause or influence a wide range of diseases.

Specifically, our clinic’s partnership with RGC involves studying undiagnosed rare conditions in Northeast Ohio’s Amish population. Since the project began, previously unknown gene mutations have been identified, and our clinic has uncovered the underlying genetic causes of rare diseases affecting some members of our community.

“This partnership has proven to be very beneficial to us and to our patient families,” says Dr. Wang, DDC Clinic Medical Director. “It has produced new discoveries resulting in life-changing outcomes, not only for our patients, but for others around the world.”

As a key component of the research project, DDC Clinic collects patient-consented DNA samples from our Amish patients and their family members. RGC conducts state-of-the-art whole exome gene sequencing on the samples free of charge and sends back the raw data to our clinic’s molecular diagnostics laboratory for further analysis.

“Integrating Regeneron’s whole exome gene sequencing into our diagnostic process has enabled our lab to find answers to many of our difficult cases,” says Dr. Wang. “Many of our patients were undiagnosed for years and faced significant challenges. Because we have access to this important laboratory data, our clinic has been able to provide many of our patient families with long-awaited answers.”

To date, DDC Clinic has received genomic data for more than 1,100 individuals, including 158 patients with undiagnosed conditions. We’ve diagnosed 46 previously unknown disease genes and decisively diagnosed 66 patients. In addition, we’ve identified potential candidate genes for 36 patients. Those numbers will continue to grow as the research collaboration progresses and more discoveries are made.