A Closer Look at Research

September 15, 2026 - Durham North Carolina

Hey y’all! It’s Karl, President of the International FOXP1 Foundation, coming to you from Durham, North Carolina in the US. As one of the leaders of the IFF since its founding in 2020, I have seen remarkable growth in the Foundation’s membership, programs and capabilities. In recent months we’ve been busy completely overhauling and refreshing our website, a process that’s given the Board a chance to review and refine how we execute our various programs. I’d like to share some thoughts about the how and why of our research program, which has been in full swing for a few years now. 

Our initial focus was on helping lay the groundwork for future more intensive therapeutic development efforts. As summarized in our recent Annual Report, this includes:

• Two organoid projects to better understand the role of FOXP1 in brain development and to develop a potential screening tool for candidate therapeutics

• A project to develop a genetically engineered FOXP1 knockout mouse that allows restoration of FOXP1 at different stages of development

• A genetic therapy study in FOXP1 “knockout” mice evaluating delivery of FOXP1 to brain cells using a viral vector

• A drug candidate evaluation using genetically engineered cells and mice to evaluate a potential therapeutic for symptoms of FOXP1 syndrome

• A project involving parental interviews and qualitative assessments to develop a Clinical Global Impression Scale measurement tool that could be used as an endpoint in future clinical research

• The FOUND study, a project involving detailed quantitative assessments and other measures to characterize the natural history (development over time) of FOXP1 syndrome

Some of these are ongoing and I can go into how each of these may benefit FOXP1 knowledge and product development another time, perhaps in our next monthly community Zoom meeting on 19 SEP (see below). But, the FOUND study is worth a deeper dive now. Led by Dr. Rujuta Wilson and her team at UCLA, this is a relatively long-term project that will provide critical insights into the developmental trajectory for FOXP1 syndrome while also supporting future clinical trials with quality reference data when evaluating candidate therapeutics. The study exemplifies how some projects can simultaneously help meet our larger research objective of helping individuals with FOXP1 syndrome and their families with knowledge and insights now, while also supporting the development of novel candidate treatments later. The future candidate treatment angle is also of interest to the FOXP1 Medical Research foundation, with which we are jointly funding the study. The FMRF’s focus is on “advancing rigorous, innovative medical research to discover treatments—and ultimately a cure—for FOXP1 syndrome” (FMRF website), hence their interest in the project. Over time, other projects will certainly arise that may interest both organizations, and this is why we communicate frequently - to seize joint funding opportunities and to avoid duplicating efforts (stay tuned for more on this).

As our funded research projects have progressed, we’ve also sought input from the community on your research priorities. Your input and other considerations are helping shape how we think about future work. One area of interest includes projects that have a high probability of success in delivering insights for families over the short or medium terms while the longer game of product development plays out. I like to think of this as person-and-family-centered research. Examples can include projects exploring the impacts of FOXP1 syndrome on the family, strategies to manage caregiver stress, best speech therapy and communication approaches, and other ways to help our children with approved medications or established behavioral therapies. Some of this will come from clinic-based projects, some from surveys, some may even be done in collaboration with other rare-disease communities or be based on work with those communities. 

Of course, the IFF also has other important initiatives beyond research. At our founding six years ago, the FOXP1 community represented fewer than 50 FOXP1 individuals. We had many needs: first, just finding each other across continents and countries, and then supporting our bonding as a community to allow us to collect and share knowledge and to encourage FOXP1 research. These community-oriented efforts need to continue and expand, because they’re just as important now as they were in 2020 and as important as the research; after all, we all want the best for both our FOXP1 children and our families. So, looking forward, we aim to organize and support more local/regional meet-ups, more educational webinars, more ways to foster live discussion in online groups, and more ways to help families in need. 

Your continued gifts of time, talent, and treasure are so critical and so appreciated! With your help, we’ll drive our research program forward and expand the emotional and educational support and resources we provide to families. Thank you for your contributions, in all forms! Note: you can donate to the general fund or specifically to the research fund, whichever most resonates with you.

Please join me at the next IFF monthly Zoom chat on September 19 so we can continue this conversation. Let me know your thoughts about our research efforts now and in the future. Or, you can ask me the questions! This is an ongoing conversation and I and the IFF Board are all ears about the work and direction of the Foundation! Register for the event here. You can also email me at info@foxp1.org.