Chinese Kleefstra syndrome community expresses interest in partnering on future research

A growing community of families affected by Kleefstra syndrome in China has reached out to IDefine and researchers involved in emerging therapeutic research, underscoring the international interest in advancing understanding and treatment of KS.

In a recent letter to the IDefine, Dr. Tjitske Kleefstra, and University of Chicago researcher Dr. Bryan Dickinson, Yale School of Medicine postdoctoral associate Dr. Peng Xu introduced a network of more than 50 individuals diagnosed with Kleefstra syndrome across China. The community, which Dr. Xu helped establish through science communication and outreach efforts, may represent one of the largest organized groups of Kleefstra syndrome patients and families in Asia.

Dr. Xu said his interest in Kleefstra syndrome grew after families began contacting him through Zhihu, a major Chinese knowledge-sharing platform, seeking information about the condition caused by changes in the EHMT1 gene. Over time, those connections evolved into a caregiver network that now supports dozens of families throughout China.

The group recently learned of the collaboration between IDefine and Dr. Dickinson’s laboratory to explore potential therapeutic approaches for Kleefstra syndrome. While acknowledging that the research remains in its early preclinical stages, Dr. Xu said many Chinese families are eager to support future studies by sharing clinical information, natural history data and, potentially, biological samples.

The outreach also reflects the growing global visibility of IDefine’s efforts to accelerate research for Kleefstra syndrome.

“One of our key goals has always been to connect and empower the global Kleefstra syndrome community,” said IDefine CEO Geoff Rhyne. “Learning that families across China have organized and are interested in contributing to research is both inspiring and a reminder that meaningful progress will come through collaboration across borders.”“This is wonderful,” said IDefine CEO Geoff Rhyne. “It shows our outreach and awareness efforts are being seen and having an impact.” 

Rhyne has encouraged members of the Chinese community to register on IDefine’s worldwide patient map and connect with the broader international network of families and researchers.

Dr. Xu said stronger collaboration among researchers, clinicians, advocacy organizations and patient communities worldwide could help accelerate progress toward a better understanding of Kleefstra syndrome and, ultimately, the development of effective treatments.