Biobank

What is a PURA Biobank and why do we need it?

In order to understand the cellular mechanisms underlying the PURA Syndrome, biological samples from patients need to be studied. The main aim of our PURA Biobanks is to collect such “bio-samples” and provide them to researchers.

The PURA Biobank involves collecting a combination of prospective and retrospective samples from globally consented PURA syndrome patients. The samples will be used for research with the long-term goal to understand and develop treatment strategies for PURA syndrome or related disorders that include genomic deletion or duplication of the PURA gene.

We will have three PURA Biobanks across the globe, acting as a resource for researchers around the world that wish to study the condition.

PURA Biobank – United States

We are working on setting up sample collection at our 2027 PURA conference, but in the meantime, families have the opportunity to participate in roadshows organized by other Patient Advocacy Groups. This allows individuals to contribute samples even if a dedicated event has not been scheduled for their community.

COMBINEDBrain Roadshows bring professional biospecimen collection teams directly to patient conferences and community events. These events make it easier for families to contribute samples while connecting with others in their community. Roadshows allow Patient Advocacy Groups to coordinate sample collection for their communities in a convenient, supportive setting. Collections are conducted under an Institutional Review Board–approved research protocol and coordinated with participating Patient Advocacy Groups.

Blood collections are provided at no cost, however participation may be limited based on event capacity. Below are the remaining dates and cities. Check the CombinedBrain website for up-to-date roadshow availabilities and contact info@pura-syndrome.org if you’d like to participate in one of the Roadshows.

PURA Biobank – Germany

The PURA Biobank has been established at the state-of-the-art biobank facility of the Helmholtz Zentrum München in Germany. It will serve as one of the global collection and distribution points for PURA research. 

PURA Biobank – Australia

How can I support the PURA Biobank?

As PURA syndrome is such a rare disease, with small numbers of patients located across the globe, collecting patient bio-samples for research can be difficult. The establishment of an indefinite collection of bio-samples from patients with PURA syndrome and, for comparison, of healthy individuals will allow overcoming this limitation. The PURA Biobank will include both, new patient samples, as well as existing samples that are currently stored in other laboratories and hospitals. 

If you decide to support the PURA Biobank and research through the donation of a biosample, you will need to discuss involvement in the PURA Biobank with your child’s doctor (clinician or surgeon). Further details will be available soon!