PURA

Research collaboration

The PURA syndrome global research network is a global collaboration that is interested in improving the understanding of PURA syndrome. Institutes involved include University of Southampton (UK), Helmholtz Zentrum München (Germany), and Lewis Katz School of Medicine Temple University (USA).

The research being undertaken includes use of the PURA mouse model, cellular biology, structural biochemistry and clinical research.

Current projects within this network include an international PURA Syndrome Natural History Study. This will rely on patients’ guardians and clinicians entering clinical information via a secure website so that more can be understood about the condition’s phenotype. Other projects include using induced pluripotent stem cells from patients with PURA syndrome, development of a patient sample biobank and using the current PURA mouse biobank for metabolite analysis and RNA sequencing.