Despite facing several challenges related to COVID-19 in 2020, the PURA Syndrome Global Research Network (GRN) has been hard at work over the last several months. The GRN held a video conference in November of 2020, where six research groups from Denmark, Germany, the UK, and the USA provided updates on their latest research. Great progress has been made by new groups who recently joined the GRN. For example, Professor Matt Guille (UK) informed us about exciting PURA-related observations his team has made in the clawed frog. This model organism is a great tool to learn about the impact of PURA on early developmental events. Another new group, led by Bettina Schmid (Munich, Germany), is using zebrafish as a model organism. Her group just succeeded in destroying the PURA gene in this fish, offering great opportunities to study PURA’s impact on later development and neuronal function. During the meeting, this work was complemented by a talk from Professor Ilker Sariyer (USA) on PURA’s function in mice. Also, clinical research was reported. The EEG study, which many PURA families participated in, has been closed and results were presented by the Danish team, Katrine Johannesen and Professor Guido Rubboli. We anticipate these results will be published in 2021 and the PURA Syndrome Foundation has agreed to support and fund “open access” publication of this paper, ensuring patients, caregivers, and clinicians will be able to access and read the results of this paper at no charge. Two other teams, headed by Professor Diana Baralle (UK) and Professor Dierk Niessing (Germany) reported on their efforts to understand PURA’s molecular function. While the Baralle group uses human samples (e.g. blood) and cultures of cells in laboratory dishes, the Niessing group studies cultivated stem cells derived from human skin. The great hope in all these efforts is that understanding the function and malfunction of PURA will allow us at some point to move forward with rational, patient-oriented treatment strategies.
The GRN has also faced losses. Our long-term GRN member Professor Jennifer Gordon (Temple, USA) recently left academic sciences. She is succeeded by Professor Sariyer (Temple, USA), who will carry on her PURA research in mice. The second, upcoming departure is the retirement of our metabolomics specialist Professor Jurek Adamski (Germany). Work is being continued by his successor at the Helmholtz Center. We thank both Jennifer and Jurek, for their great contributions and selfless support, and wish them all the best for their future.
Building up infrastructure for research has been another important goal of the both the Global Research Network and the PURA Syndrome Foundation. The Grants Committee has been reinstated with the PURA Syndrome Foundation and several new research grants will be reviewed by this committee in the coming months. This year, the UK-based patient registry went online for extensive testing and members of both the GRN and the PURA Syndrome Foundation have been working hard to ensure the registry is user-friendly for patients, caregivers, and clinicians. The GRN has also made efforts to build up a biobank in Germany. Our hope is that both entities will be fully operational by the end of 2021. The Foundation is working alongside the GRN to set up proper supports and staff to ensure that both the Registry and Biobank will run efficiently and effectively for years to come.