The PURA Syndrome Foundation commenced a joint research collaboration with the Danish Epilepsy Research Hospital (Denmark) and Maastricht University Medical Center and Academic Centre for Epileptology (The Netherlands) in 2018 to better understand epilepsy and general neurological issues occurring with PURA patients.
For this next round of neurology research in 2019, the above research teams are collecting and studying EEG “raw data” (digital recordings of EEG waveforms) that have been previously recorded for PURA syndrome patients. Researchers hope to analyse existing EEG data from PURA patients and learn how PURA seizures start, spread, and stop. They aim to identify what are standard EEG patterns for PURA syndrome, and what common patterns and changes they see when seizures are and aren’t occurring.
This means researchers will need to collect EEG data from both PURA patients with seizures, and PURA patients without seizures.
As such, all PURA patients who have had an EEG can be involved in this research, with or without epilepsy.
Patients who have already been published in another research paper can also be included.
To be included in this research, PURA families will need to have their neurologist send copies of the digital EEG files recorded during PURA patient testing, to the EEG research team. These files can be sent on a CD, a DVD or sent via a digital dropbox.
Congratulations to Prof Dierk Niessing who was just granted the 2018 Science Award for Rare Diseases by the Care-for-Rare Foundation. The Science Award for Rare Diseases 2018 recognised a research project developed by the Drukker and Niessing labs, to use induced pluripotent stem cells to better understand abnormalities in PURA patient cells. For the PURA Syndrome Foundation and the PURA community, it serves as confirmation that the Niessing lab's scientific strategy is state-of-the-art and that the involved research groups are leaders in this field. Equally important, the award highlights the achievements of the PURA Syndrome Foundation and confirms that the establishment of their patient registry and global biobanks are of research importance.
The project proposal was supported by the PURA Syndrome Foundation, Dr. Micha Drukker (Helmholtz Zentrum München; Germany), and Margot Reijnders MD (Maastricht, UMC; Netherlands).
PURA Syndrome Foundation awards first Fellowship Grant
The PURA Syndrome Foundation previously announced that it had awarded a research grant to the University of Southampton, in the United Kingdom. The grant directly fulfils a portion of the foundation’s mission to further research into this rare condition. The funds were raised by families and friends affected by PURA syndrome.
The clinical fellowship position has been awarded and the successful applicant is Dr Rebecca Mawby. Dr Mawby is a trainee Paediatrician with experience in complex paediatric disorders. She is continuing study in the area of epilepsy and seizures, and endocrinology, which will further benefit the PURA syndrome community. Dr Mawby will assist to develop and administer the secure global online patient registry. Information from this study will form the basis of future research papers and help us to better understand what happens with PURA syndrome across the life span of patients (longitudinal study), creating a Natural History of the syndrome.
For more details and the official press release.
GeneReview - medical review for clinicians supporting patients
PURA syndrome now has a published GeneReview available. GeneReviews is an international online resource, providing medical information for genetic conditions. The review covers diagnosis, management, and genetic counselling for patients and their families. Members of the 2016 Global Research Network spent a year working on this GeneReview for PURA syndrome. The information is only allowed to be based on published cases (those PURA cases in medical papers), but will continue to be updated regularly as more papers for PURA syndrome are published.
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