Biobank

What is the 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 Biobank is to collect such “bio-samples” and provide them to researchers. The PURA Biobank is currently being established at the state-of-the-art biobank facility of the Helmholtz Zentrum München in Germany. It will serve as a global collection and distribution point for PURA research. The PURA Biobank can then act as a resource for researchers across the globe that wish to study the condition.

The location of the PURA Biobank has been intentionally chosen by the PURA Syndrome Foundation and responsible scientists of the Global Research Network to be located within the European Union. This choice warrants superior protection of personalized medical data and better control over the use of samples and potential commercial exploitation.

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.

The PURA Biobank is currently being established and is expected to go online in the first half of 2025.

Update Fall 2024: In July, the PURA Syndrome Foundation signed an agreement with Helmholtz to provide grant funding that will help finalize administrative work and prepare for the launch of the Biobank. We are excited to keep moving this key part of our research pillar forward and will let our PURA Community know when it will be ready to accept samples. Please note – in order to submit samples to the Biobank you will need to have completed the Patient Registry – get started today by clicking here.

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. This PURA Biobank represents the first ever life-long, globally accessible biobank for PURA syndrome research.

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 after the commissioning of the PURA Biobank. Please stay tuned…