It all began with one mother who wanted to get answers for her son

We applaud her for her efforts and willingness to ask questions.

We want the same for you. We want you to feel the confidence to ask questions when you meet with your genetic counselor or geneticist. The thing that motivates us to keep working is the way this research might affect families. We want to empower families and patients with knowledge about CTCF-Related Disorder so that they can make the best medical, social, and emotional decisions they can make along with their families.

We are motivated by our patients’ stories.

Our goal is to study and learn more about how CTCF (CCCTC-binding factor) variants cause the features of CTCF-Related Disorder.

Take a look at our website for some more information on CTCF, about our study and to connect with our families.