2024 Conference Videos Available

Videos from our 2024 PURA Syndrome Conference, which took place June 21-23, 2024 in Chicago, IL, USA are now available!

Our mission is to support and drive research, raise awareness in the general community, as well as connect, educate, serve, and empower families impacted by PURA Syndrome.

One-on-One Appointments are Now Available to Help you Complete your Patient Registry!

Do you need help completing your PURA Patient Registry? We are excited to announce that we are now offering confidential, one-on-one appointments with our research nurse, Tessy or PURA Aunt and Retired Nurse, Lyn. They can offer assistance with navigating the modules and can help answer questions as you complete the Patient Registry.

PURA Sibling Outreach

Are you a PURA sibling? Click the link below to access sibling resources and to join our sibling community!

What is PURA Syndrome?

PURA Syndrome is a rare genetic disorder that affects neurodevelopment. It was first described in medical literature in October of 2014. PURA syndrome arises when there is a genetic alteration affecting one of a person’s two copies of the PURA gene. The defect can be a single letter spelling change within the gene, a small insertion or deletion within the gene, or even a larger deletion removing one whole copy of the gene (and potentially many neighbouring genes as well).

Educate. Advocate. Connect.

Learn more by visiting our PURA 101 and Frequently Asked Questions (FAQ) pages.

Research is vital to improving the lives of those with PURA Syndrome. Learn how you can help by getting involved with our Global Registry.

Our community grows every year and we want to do whatever we can to support one and other along the way. Together we are stronger!

Member Organizations

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