PURA syndrome was first described in 2014 as a rare neurodevelopmental disorder. The condition is caused by mutations in the PURA (= Purine-rich-element-binding-protein-A) gene. This gene encodes the transcription factor and RNA-transport protein PURA (formerly known as Pur-alpha), which appears to fulfill several cellular functions. To date, its mode of action and the consequences of its malfunctioning in PURA patients are not well understood.
The PURA-Biobank will involve the collection of a combination of prospective and retrospective samples from consented PURA syndrome patients globally. The samples will be used for research with the long-term goal to understand and develop treatment strategies against PURA syndrome or related disorders that include genomic deletion or duplication of the PURA gene as well as other neurological disorders.
We are currently finalizing the setup of the PURA biobank and expect it to go online towards the end of 2023.
As PURA syndrome is such a rare disease, with patients located across the globe in small numbers, collecting patient bio-samples for research can be difficult. We aim to set up and maintain an indefinite collection of bio-samples from patients with PURA syndrome and, for comparison, of healthy individuals. The PURA-Biobank can then act as a resource for researchers across the globe that wish to study the condition. 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 accessable biobank for PURA syndrome research.
If you decide to to support the PURA-Biobank and research through donation of a biosample, you will need to discuss involvement in the PURA-Biobank with your child’s doctor (clinician or surgeon).
If you would like to support PURA research through a financial donation, please click here.