Current Research

Cohesinopathy Biobank Research Study

Scientists at Boston Children’s Hospital are looking for research participants with STAG1 gene changes (variant, mutation, deletion, or duplication) for a biobanking study. Study is currently limited to individuals who have already had a skin biopsy obtained as part of a previous clinical or research study. If you would like to learn more, please contact study coordinator Emeline Kao at

Research Goals

In line with our mission statement we will be supporting research in a wide range of issues related to the STAG1 gene mutation.

Consistent with the lack of visibility for STAG1 syndromes, however, active research on the STAG1-specific cohesinopathy is limited. Our goal is to recruit clinicians and scientists already active either directly with STAG1 or on STAG1-adjacent disciplines (i.e. Cornelia de Lange) to form our Medical and Scientific Advisory Board. The MSAB will be able to evaluate patient data from the medical registry to recommend treatment as well as identify areas in need of active research. The STAG1 Gene Foundation will work with the MSAB to identify scientific groups with the capabilities to perform research in these recommended areas.

Registry / Natural History Study

Advancing medical research is another goal for our organization. As the first and only organization for STAG1, we have a unique opportunity to collect patient data and begin a registry. By collecting patient data on the phenotypic features, as well as the prevalence and demographics of STAG1, we can better characterize this syndrome. Compiling the clinical and social facts of those affected with STAG1 gives our population a broader representation. We can begin to paint a clearer picture of this diagnosis and equip parents with the knowledge needed to make informed decisions on their child’s well-being. Also, we would like to create a long-term natural history registry. This would be powerful in encompassing all the aspects of living a full life for STAG1 individuals and is critical as the foundation of data required for drug development.

We will be moving forward with the CoRDS registry through Sanford Research. For information about the process click here. We will provide info soon for enrollment.

CoRDS Registry coming soon.