News & Events

Development of a Patient and Caregiver-Centered Pediatric Disease Concept Model for Kleefstra Syndrome

In collaboration with RSZ TNC researchers and support from IDefine – The Kleefstra Syndrome Foundation, a graduate student from the Boston University Genetic Counseling Program, Kristen Connors, developed a disease concept model for Kleefstra syndrome (KS). This patient and caregiver-centered research identified unique aspects of the condition that most greatly impact the patient population and their families. This data may be used to generate educational materials for families and clinicians, and direct the eventual development of KS-specific interventional treatments that target features that are most important to the KS community.

Click here for more information about this article and other featured publications.