MEF2C Patient Registry and Data Collection on Simons Searchlight
Simons Searchlight data and biospecimens can be requested by a global network of scientists through the SFARI Base data distribution platform (base.sfari.org)
This platform has helped the MEF2C community to stimulate interest within the international research community
We see significant added value from our partnership with organizations experienced in longitudinal data collection and analysis of rare disease groups
Please keep your Simons Searchlight account up to date and frequently check your dashboard
Ensure you have completed the Observer-Reported Communication Ability (ORCA) survey—to capture how individuals with MEF2C related disorders communicate, whether through speech, gestures, or AAC devices. This survey takes only 10-15 minutes and empowers families to share their expert knowledge on their patient; this survey helps researchers to understand communication challenges in the MEF2C Community to shape future therapies.
Ensure you have completed the updated Annual Medical History Survey (AMHS), a streamlined annual survey, making long-term participation easier and more impactful. This key survey brings more high-quality medical information into the hands of researchers studying MEF2C and now offers a more comprehensive view by covering a broader range of conditions, symptom severity, and treatment effectiveness
