International Research Conference on Williams Syndrome

University Of Pennsylvania, Philadelphia PA

Investigators

Abstract

This proposal will establish the first International Conference on Research in Williams Syndrome organized by the Armellino Center of Excellence for Williams Syndrome (ACE-WS). We intend to establish a biennial conference as there are no recurring scientific meetings devoted to research in WS. Williams syndrome (WS) is a rare (1 in 7500 births) neurodevelopmental syndrome caused by hemizygous deletion of ~28 genes at 7q11.23. WS is characterized by developmental delay, distinctive cognitive and behavioral phenotypes, visual processing deficits, cardiovascular defects, gastrointestinal problems, endocrine issues, and more. For a rare disease, it is particularly important to provide an inclusive venue for communicating ongoing research findings and enabling multidisciplinary collaboration and resource sharing between research groups focused on WS, as well as facilitating the introduction and retention of new investigators to the field, including both collaborators in related fields as well as trainees and junior investigators entering WS research. There has been recent progress in the field in preclinical studies addressing potential treatments and interventions to mitigate some of the health and behavior issues associated with WS, as well as some early clinical trials in progress. A major goal of the Armellino Center is to expand research efforts and support studies with a particular focus on translational science. This is a key time to establish a recurring WS scientific meeting in order to facilitate preclinical readiness studies, develop robust outcome measures for future trials, and build networks that will support multisite trials. The ACE-WS partners with the Williams Syndrome Association (WSA; a national non-profit organization supporting families impacted by Williams syndrome) and ACE-WS is a member of the WS Clinical Consortium overseen by the WSA (consisting of the 10 WS Specialty Clinics in the US, including the clinic operated by ACE-WS). This Consortium operates the Collaborative Registry for Williams Syndrome (CReWS), a registry which unites both patient/caregiver-entered data and data entered by the WS Specialty Clinics and will serve as a significant research resource for the WS research community. These partnerships ensure a wide reach and will foster ongoing collaborations developed in this and future meetings.