Cux2 Foundation: Community Support for Families

Our Mission

The CUX2 Foundation is a parent-led 501(c)(3) nonprofit dedicated to advancing research into CUX2, a rare genetic mutation. We connect families, build research-ready patient cohorts, and raise funds to support scientific research that improves outcomes for those affected.

We exist to ensure no family navigates a CUX2 diagnosis alone. By building community, amplifying the collective voice of affected families, and working directly alongside researchers and clinicians, we are creating a path toward answers. Every family that joins strengthens the effort.

Please reach out to connect with our Facebook group, where multiple families are working together to find answers for our loved ones diagnosed with CUX2.

Email Us: Hello@cux2foundation.org

What is CUX2?

CUX2, or Cut Like Homeobox 2, is a gene that provides instructions for a protein the brain uses to guide the growth and development of neurons, particularly in the upper layers of the cerebral cortex. Mutations in this gene are spontaneous (de novo), meaning they are not inherited from either parent. When the CUX2 protein does not function correctly, it interferes with how neurons form, branch, and connect, which can affect brain development and function in a range of ways.

The effects of a CUX2 mutation vary significantly between individuals. Some children present with intellectual disability, speech delay, or autism spectrum disorder. Others present with a more severe profile that meets the criteria for Developmental and Epileptic Encephalopathy 67 (DEE67), a serious neurological condition characterized by early-onset seizures and significant neurodevelopmental impairment. DEE67 is currently the most formally characterized diagnosis associated with CUX2 mutations, though the full spectrum of CUX2-related conditions is still being studied. The condition is rare, with only a small number of diagnosed cases reported in the medical literature worldwide.

Symptoms associated with CUX2-related conditions can vary significantly between individuals. Common presentations include:

Seizures, often beginning in the first months of life and resistant to medication
Global developmental delay, affecting both motor and intellectual development
Absent or significantly limited speech
Movement disorders
Autistic behaviors or stereotypic (repetitive) movements
Intellectual disability
Abnormal EEG findings

The CUX2 Foundation is actively conducting parent-led natural history study to build a structured dataset of clinical experiences and outcomes across the CUX2 community. This research is a critical step toward advancing our understanding of CUX2-related conditions and supporting future therapeutic development. If your child has been diagnosed with a CUX2 mutation, we encourage you to reach out and participate.

CUX2 PARTNERS

The Shinya Yamamoto Lab and the Bellen Lab at Baylor College of Medicine

The fruit fly, Drosophila melanogaster, has made major contributions to science and medicine over the past ~120 years, recognized by 6 Nobel Prizes in Physiology or Medicine among other awards.

We are grateful for our researchers, Dr. Yamamoto, Dr. Kanca, and Dr. Belen at Baylor College of Medicine (BCM) for pushing the limits of Drosophila research in biomedical sciences by applying the state-of-the-art technology to study CUX2.

The Orphan Disease Center

The Penn Medicine Orphan Disease Center (ODC) develops transformative therapies and platform technologies for rare diseases with significant unmet medical needs. It bridges gaps in rare disease drug development by uniting academic researchers, patient advocacy groups, and industry partners to advance research from early discovery to clinical application. Through initiatives like JumpStart programs, research grants, and strategic collaborations, the center works to build essential research infras

The Jumpstart Program

The JumpStart Program at the Penn Medicine Orphan Disease Center helps emerging and neglected rare disease foundations establish and advance their research agendas. Rather than offering direct funding, the program provides scientific advisement, network outreach, and strategic guidance to bridge resource gaps for patient advocacy groups. Key initiatives include connecting foundations with researchers and key opinion leaders, guiding the development of clinical programs and research tools, assist

The CRID (Clinical Research ID)

The Clinical Research ID (CRID) provides patients and families with a free, secure, and unique universal identifier that allows their health data to travel safely across multiple clinical studies. By connecting de-identified patient records without using protected health information, the CRID enables researchers to reuse, merge, and share research data seamlessly. Ultimately, this privacy-preserving framework reduces patient burden, eliminates redundant data entry, and accelerates medical discov

Welcome to the CUX2 Foundation