2nd International Scientific Conference on Kleefstra Syndrome

I had the distinct honor to participate for the second time as a speaker at an International Scientific Conference on Kleefstra syndrome. The conference was organized by Kleefstra Association Spain  and took place on June 5 and 6, 2025 in Madrid.

The meeting was attended by researchers, doctors, academics, representatives from the pharmaceutical and biotechnology communities, as well as organizations and families involved with Kleefstra syndrome. A common goal was the exchange of the latest scientific knowledge and the discussion of next steps for a better understanding of the syndrome and the development of new therapeutic approaches.

The discussions focused on critical issues, such as:

• How can we bridge the gap between preclinical and clinical research?,

• what are the necessary conditions for the design and implementation of clinical trials,

• and how international cooperation can accelerate the path toward effective treatments and, in the long term, a potential cure.

My participation in the conference also had a particularly personal dimension for me. As the aunt of a child with Kleefstra syndrome who is no longer with us, research into the syndrome is not merely a scientific interest. It is connected to the real needs of families, to the questions that remain unanswered, and to the expectation that scientific progress will lead to better care and, in the future, to effective therapeutic options.

What became particularly apparent in Madrid is that, in such a rare syndrome, No research center and no country can move forward on its own. Collaboration between scientists, clinicians, organizations, and families is essential to gather sufficient data, better understand Kleefstra, and prepare research for the next stages.

All speeches were recorded and will be shared on the site as soon as they are available.