Introducing the SHANK2 Foundation Patient Registry to Support Families and Research for Ultra-rare SHANK2 Disorders

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The SHANK2 Foundation is seeking patients carrying SHANK2 variants for enrollment in the SHANK2 Patient Registry, designed to support research of ultra-rare SHANK2 disorders and accelerate treatment development.

We need to unify all community members to gain a holistic understanding of the role SHANK2 plays in disease and advance the development of treatments for our kids.

The SHANK2 Foundation has launched the SHANK2 Patient Registry, a collaborative effort with Beneufit, an innovator in medical research methods and technologies, to collect and store data on ultra-rare SHANK2 disorders. Information contained in the registry will be de-identified and made available to researchers and biotech companies striving to better understand the role SHANK2 plays in disease and develop treatments for affected individuals. The SHANK2 Patient Registry can be found at https://shank2.beneufit.com.

The SHANK2 Foundation was recently formed by two parents of children diagnosed with SHANK2 disorders, driven by their mission to improve the quality of life for all individuals carrying pathogenic SHANK2 variants. SHANK2 Disorders manifest in a wide variety of symptoms ranging from autism spectrum disorder and intellectual disability to schizophrenia. Fewer than 100 patients have been diagnosed worldwide, but the rate of diagnosis is increasing as genetic testing advances. Given the diversity of symptoms of SHANK2 disorders, the rarity of diagnosed cases, the limited and scattered research, and most important, the lack of treatments, the founders recognized the need for a centralized database of identified patients to support research and treatment development. The foundation is bringing together families, caregivers, scientists, clinicians, pharmaceutical companies and biotech engineers to achieve this goal.

Each family member or caregiver participating in the registry is asked to complete a patient profile, genetic information questionnaire and five simple surveys on the patient’s health, communication aptitude, behavior, sensory abilities and family quality of life. This de-identified data will be incorporated into the database and exhibited in real-time population data to help participants better understand the demographics of the SHANK2 community.

According to co-founder Polly Appel, “SHANK2 research is being conducted worldwide, SHANK2 disorders are being diagnosed at a faster pace than ever and pharmaceutical and biotech companies are developing treatments for even the rarest of diseases. But we need to unify all community members in order to gain a holistic understanding of the role SHANK2 plays in disease and advance the development of treatments for our kids. The collection of information by the SHANK2 Patient Registry is the first step in this process.”

About the SHANK2 Foundation
The SHANK2 Foundation is dedicated to providing researchers with the data needed to accelerate the development of treatments for SHANK2 disorders while raising awareness of these ultra-rare diseases and providing support to affected families.  Learn more about the foundation at http://www.shank2.org.  

About Beneufit, Inc.
Beneufit is a digital health company whose rare disease patient registry and data analysis platform empowers patient advocacy groups to serve their communities and advance scientific research. More information is available at https://www.beneufit.com.

Media Contact:
Polly Appel
Co-Founder, SHANK2 Foundation
polly@shank2.org

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Polly Appel

Jeff Broderick
@beneufit
since: 01/2013
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