At the UK conference in August 2018 Dr. Kleefstra indicated that due to being successful in a bid for funding her team would be looking to start new research into KS.

Dr. Joost Kummeling has been in contact recently with the following introduction for the KS community.

“Hi everyone,

My name is Joost Kummeling.

I am a medical doctor, graduated from the Radboud University medical school in October 2018. I recently started to work with doctor Tjitske Kleefstra on research concerning the Kleefstra syndrome.

Last year, during my elective internship at the department of human genetics in the Radboud University Medical Center (Radboudumc), I was compelled by the world of neurodevelopmental diseases: The underlying causes, the patients, and the different daily struggles they and their caretakers may have to deal with.

It was a great experience for me to work at the Radboudumc in a team full of inspiring and committed medical professionals, where the level of expertise on a multitude of neurodevelopmental disorders (including Kleefstra syndrome, of course) is so profound. So, when the opportunity arose for me to work with doctor Kleefstra on neurodevelopmental diseases after my graduation, I took it with both hands.

For the coming years, the focus of my research will be mainly on regression and the psychiatric symptoms that have been observed in patients with Kleefstra syndrome. Our main objective is finding out how to adequately tackle those problems.

As of January 2019, we are in the beginning stages of conducting our research, and hopefully we will start including patients very soon… It is exciting for me to delve deeper into the Kleefstra syndrome, and as the years pass I would love to inform you on my findings.

I wish you all the best,

Joost Kummeling“
3rd Jan 2019