Participate in Research
Join the Patient Registry
The AUTS2 Patient Registry is a secure data platform for individuals with AUTS2 syndrome.
By sharing your experience through surveys, you help researchers better understand the condition, identify unmet needs, and guide future research and treatment development.
Participants can complete surveys themselves or with the help of a parent, caregiver, or family member.
This is the most important first step for all families.
Contribute a Blood Sample
In addition to the registry, families can choose to contribute a biological sample through a biorepository. These samples help researchers study AUTS2 more deeply and, in some cases, develop stem cell models (iPSC lines) to test potential therapies.
Participation in the registry does not require participation in a biorepository.
There are two ways families can contribute samples:
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CombinedBRAIN (Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders) is a nonprofit organization focused on accelerating the development of treatments for rare genetic neurodevelopmental conditions by aligning data, research, and clinical efforts.
It is led by patient advocacy organizations and works closely with clinicians, researchers, and pharmaceutical companies developing therapies.
The CombinedBRAIN biorepository collects and stores patient samples to support research and therapeutic development.
This biorepository is available to families in the U.S. or those able to travel to the U.S.
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The NIGMS Human Genetic Cell Repository at the Coriell Institute for Medical Research is a leading nonprofit biobank that provides researchers worldwide with access to biological samples to advance scientific discovery.
Samples contributed to Coriell are used to support a wide range of genetic and biomedical research.
This biorepository is available to families in the U.S. and internationally.
Privacy and Oversight
The AUTS2 Registry and Biorepository are conducted as IRB-approved research studies, with safeguards in place to protect participant privacy, safety and responsible data use.
Frequently Asked Questions
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A patient registry is a secure collection of information about individuals who share a condition. The AUTS2 Patient Registry brings together data from individuals and families to help researchers identify patterns, better understand the condition, and guide future research.
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A biorepository is a centralized resource that collects and stores biological samples, such as blood.
These samples are de-identified (made anonymous) and shared with qualified researchers to support research and the development of new treatments.
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Progress in rare disease starts with families.
Because AUTS2 syndrome is rare and highly variable, every individual’s participation matters. Sharing your experience helps researchers, clinicians and drug developers better understand the condition and move the field forward.
By participating, you may:
contribute to research that advances understanding of AUTS2
help shape future treatments and clinical studies
stay informed about research and opportunities
be part of a global community working toward progress
Families from around the world are welcome. The registry is fully online, and international participants play a critical role in building a more complete and representative understanding of AUTS2.
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Time varies depending on the surveys. Most can be completed in parts, and you can save your progress and return at any time.
Participation in the biorepository may require additional time to provide a sample.
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Your information is de-identified (made anonymous) and used to support research.
Data may be shared with qualified researchers and clinicians to advance understanding and enable new discoveries.
Biological samples may also be shared with approved partners under strict protocols to protect privacy and ensure responsible use.
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You can enroll by completing the online registration process, which includes:
creating an account
providing consent
uploading a genetic report to confirm diagnosis
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There are several ways to contribute a biological sample, including through Coriell or our partnership with Combined Brain.
To find the best option based on where you live, contact us at info@auts2research.org and we’ll guide you through the process.