Dr. Tjitske Kleefstra

In 2010, Dr. Kleefstra and her research team identified the genetic cause for the set of characteristics associated with what is, after her work, known as Kleefstra Syndrome (KS).

Dr. Kleefstra continues her work to improve diagnostics, management and treatment for patients with neurodevelopmental disorders, particularly those resulting in intellectual disabilities. She leads a research team focused on developing individual approaches to treating and managing these disorders, working to construct personalized healthcare for patients diagnosed with rare conditions.

Dr. Kleefstra remains an active participant in the KS community, building bridges between researchers and the families affected by KS and other intellectual disabilities. She provides monthly updates to the IDefine team and their colleagues, ensuring access to the latest scientific developments in her work. She sees great potential in IDefine’s capacity to bring teams of scientists and doctors together to work toward funding research and clinical trials for life-changing treatments and therapies for those diagnosed with KS.

“It is a great honour for me to highlight the launch of IDefine, the first US based, but globally supported, charity focused on fundraising for research on the Kleefstra Syndrome!

The syndrome that I together with my colleagues in Nijmegen The Netherlands, study intensively after we identified 15 years ago the causal genetic factor: the EHMT1 gene!

Only by joining world-wide efforts we can move this field on a RARE disorder forward to challenge the various aspects we all face.

It is difficult to foresee where we are in another 15 years, but we may expect huge steps that now only seem magic!

Thanks to all who made IDefine possible and looking forward to a well connected future!”

– Dr. Tjitske Kleefstra