PURA Syndrome Global Research Network

The PURA Syndrome Foundation supports the PURA Syndrome Global Research Network, a global network of medical researchers. The Global Research Network coordinates PURA syndrome research, assists in the development of the PURA Syndrome Global Patient Registry and Global PURA Biobank. Research members assist the Foundation in educating families, institutions and clinicians about PURA syndrome.

Research relating to PURA syndrome can broadly be divided into four areas:

  • Clinical  – Clinical study to find an accurate description of the disorder

  • Animal Models - Mice, Frog and Zebrafish models to help us better understand how PURA and pur-alpha function within living systems

  • Cellular Biology - Understanding of how the pur-alpha protein interacts and functions within cells 

  • Structural biochemistry - Understanding what effect PURA mutations have on the structure of the pur-alpha protein and its binding partners

These 4 areas will draw on the Global Patient Registry and the Global Biobank Network for information and samples. Research completed will then help lead us to PURA specific dietary knowledge, repurposing of medications and new treatments (gene therapy).


PURA Syndrome Global Research Network Overview

The PURA Syndrome Foundation works with the PURA Syndrome Global Research Network. The research strategy is outlined below. 


  • Filadelfia Epilepsy Research Hospital, Denmark 

  • Maastricht University Medical Centre, The Netherlands

  • University of Southampton, UK

  • Helmholtz Zentrum Munchen, Germany

  • Temple University Philadelphia, USA

  • DZNE (German Centre for Neurodegenerative Diseases) 
    Munchen, Germany. 

  • PURA Syndrome Foundation

PURA epilepsy.png
Doctor Examining CT Scan

Global Epilepsy Research Project - For more details

Supporting Institutions/Groups:


PURA Syndrome Global Research Network Members
Chair and co-ordinator: 
Prof Dierk Niessing 

PURA frog.png
PURA zebrafish.png
PURA Registry 4.png
PURA Biobank.png


- Dr David Hunt

- Dr Margot Reijnders (geneticist in training)
- Prof Diana Baralle 

- Dr Andrew Douglas

- A/Prof Rick Leventer
- A/Prof Rob Rouhl

- Prof Kathryn Swoboda

Animal Models

Lewis Katz School of Medicine 

Temple University, Philidelphia, USA
- A/Prof Jennifer Gordon

European Xenopus Resource Centre 
Portsmouth, UK

- Prof Matthew Guille

- Dr Colin Sharpe

- Annie Godwin (PhD)

DZNE - German Centre for Neurodegenerative Diseases (ALS), 
Munich Germany

- Dr Bettina Schmid​

Cell Biology


Institute for Structural Biology
Human Pluripotent Stem Cell Unit
Helmholtz Zentrum München, Germany

- Dr Micha Drukker

- Prof Dierk Niessing 

- Lena Molitor (PhD)

Genome Analysis Center (metabolomics)​Helmholtz Zentrum München, Germany
- Prof Jerzy Adamski

Structural Biochemistry


Institute for Structural Biology
Helmholtz Zentrum München, Germany

- Prof Dierk Niessing 

- Dr Robert Janowski

Global Patient Registry

Faculty of Medicine

University of Southampton UK
- Prof Diana Baralle 

- Dr Rebecca Mawby (Foundation Fellow)

Global Biobank

UK Biobank - University of Southampton

- Dr Andrew Douglas

EU Biobank -Helmholtz Zentrum Munchen

- Prof Jerzy Adamski

Gene Review - for clinicians
PURA-Related Neurodevelopmental Disorders 

Members of the PURA Syndrome Global Research Network, along with supporting global clinicians wrote a medical care document for doctors, known as a Gene Review.


PURA-Related Neurodevelopmental Disorders includes the following conditions: