International FOXP1 Conference Brings Together Researchers, Families Affected by Rare Genetic Condition

Dasgupta quickly became involved in the International FOXP1 Foundation after his son’s diagnosis in 2023, immediately setting out to learn more and becoming a board member with the foundation. After researching the condition and seeing its significant impacts and prognosis, Dasgupta “wanted to be proactive about the search for treatment.” He reached out to Karl Whitney, a co-founder of the foundation, and Geraldine Dawson, PhD, whom he had met after his son was seen at the Duke Center for Autism and Brain Development, about putting together a conference, and then networked with other scientists to help move the idea forward.

“Everyone who was available said yes. I feel very fortunate that the scientists [researching rare conditions] are open-hearted. But there is a special nature of being a rare-condition parent. I wanted to make sure the parent communities are represented.” – Samit Dasgupta, PhD, conference organizer and parent of a child with FOXP1 syndrome

The FOXP1 gene encodes the FOXP1 protein, which is necessary for the development of the heart, lungs, and brain. A mutation in the FOXP1 gene, called FOXP1 syndrome, results in significant developmental delays and is strongly correlated with autism.

What the condition looks like can vary widely, but it’s characterized by speech and motor delays, neurodevelopmental and mental health conditions (including features of autism, ADHD and anxiety), and other health concerns including irregular sleep, arthritis, vision impairment, and cardiac issues.

Fewer than 500 individuals are known to have FOXP1 syndrome worldwide. The mutation can be identified only by genetic sequencing, so it’s likely that some individuals with this condition have not been diagnosed. In many cases, families are referred to genetic testing when no other explanation for their child’s developmental delays and other health issues can be identified.

The agenda included speakers representing research, clinical, and family perspectives. Families and individuals with FOXP1 syndrome in attendance had an opportunity to speak directly with scientists about research priorities, as well as meet other families in this small community.

“As a child psychiatrist caring for individuals with rare genetic neurodevelopmental conditions, and as a neurobiologist conducting research, I’ve felt a disconnect between families, clinicians, and researchers. We designed this conference intentionally to bring these parties to the table to learn from each other." – Alexandra Bey, MD, PhD, Assistant Professor of Psychiatry and Behavioral Sciences

Another family whose daughter has FOXP1 syndrome traveled from New York to attend the conference. They arrived hoping to find studies they could enroll in, as well to connect with other families who might be able to share tips and resources. “Her inabilities are deceiving. She can do a lot more than we think, and she always surprises me,” the girl’s mom said.

Severe speech challenges are a distinctive feature of FOXP1 syndrome, so people often assume that these individuals have limited communication abilities. However, when it comes to language in FOXP1 individuals, “Only verbal speech is impacted. With support to communicate in other ways, FOXP1 individuals may have the cognitive ability to express themselves on par with their receptive language (their ability to understand what is said to them),” noted Miya St. John, PhD, a postdoctoral researcher in speech pathology at the Murdoch Children’s Research Institute in Australia. Alternative communication supports may include sign language, augmentative alternative and communication (AAC) devices, and speech therapy.

Parents shared tips about behavioral interventions and gave clinicians feedback on what has worked for their families. Many expressed an urgent desire for treatment options. Though no treatments for FOXP1 syndrome exist, some interventions can help address the co-occurring neurodevelopmental, mental health, and medical conditions.

Some individuals with FOXP1 syndrome came to share their own experience. An adult with FOXP1 syndrome, spoke about his semi-independent lifestyle. A Special Olympics kayaker, he lives in an apartment, where a caregiver comes to help with household tasks. His talk was conducted in an interview format with his mother asking him questions to reduce his stress and better enable him to express his thoughts and ideas. She was one of several parents to describe the significant behavioral and medical challenges FOXP1 families face, while also noting her son’s strengths, including curiosity and persistence.

The conference brought together researchers of rare genetic conditions from Australia, Germany, the Netherlands, Canada, and across the United States. One aim of this gathering was to share resources and data. With rare conditions, it’s hard for researchers to find enough study participants to make meaningful conclusions. The International FOXP1 Foundation partners with the Rare-X Research Program, a global genetic data sharing platform to collect patient data via questionnaire and allow researchers to propose studies using this data to minimize burden on families to participate in multiple research studies that would otherwise require many different surveys. Zohreh Talebizadeh, PhD, Senior Director of Rare-X, spoke via Zoom about how this collaboration builds knowledge about rare genetic conditions.

Karl Whitney, a founder of the International FOXP1 Foundation, described the conference as an important milestone. “Our goals are to foster collaboration across the world and accelerate research,” he said. “It’s great to be back on campus,” the Duke alumnus added.

Panelists also encouraged the creation of a centralized international FOXP1 research registry to help match patients with research studies without duplicating information. Another project aims to paint a more accurate profile of FOXP1 syndrome characteristics through careful assessment of identified individuals to help with understanding the spectrum and trajectory of this syndrome and support clinicians providing tailored care to FOXP1 individuals.

The conference also highlighted the potential overlap between FOXP1 syndrome and other rare genetic neurodevelopmental syndromes. Researchers with expertise developing novel interventions and gene therapies for other conditions shared the lessons they have learned from developing treatments in other conditions. Speakers shared research into small molecule therapies that have shown promising results, potentially reversing some symptoms in mice with altered Foxp1 genes.

The conference ended with a brainstorming session where groups comprised of families, researchers, and clinicians worked together to identify topics for future research studies that have the most promise to impact the well-being of FOXP1 individuals in the near future.

“It was inspiring to see the breadth of ideas as well as some convergent themes that emerged across groups as a result of clinicians learning about the mechanisms of FOXP1 syndrome and researchers learning about the priorities of families throughout the conference.” – Alexandra Bey, MD, PhD

Despite feeling lost as a parent after her daughter’s diagnosis, one family came away from the conference feeling “more confident that science will get to where we can treat rare conditions.”

The International FOXP1 Foundation is seeking grant proposals that directly impact its mission to accelerate basic and translational FOXP1 research. See the full request for proposals here.