PURA Researchers

These are just a few of the network of scientists and doctors invested in advancing the research on PURA Syndrome. We are so grateful for their dedication to our PURA families.

PURA Researchers

AUSTRALIA

(See link to PURA Syndrome Foundation Australia below)

Prof. Christopher Reid, Translational Neuroscientist; Dr. Ming Soh, Research Fellow; Dr. Khaing Phyu Aung, Research Fellow at The Florey

Prof. Michael Hildebrand, Neurogeneticist; Prof. Angela Morgan, Speech Pathology; Dr. Miya St John, Research Officer, Speech and Language; Jenna White, PhD Student, Neurophysiology at University of Melbourne

Prof. Richard Leventer, Neurologist; Prof. David Coman, Metabolic Physician and Clinical Geneticist; Prof. David Amor, Clinical Geneticist at Murdoch Children’s Research Institute

Dr. Emma Palmer, Clinical Geneticist at UNSW Sydney

CANADA

Dr. Jim Dowling at Sick Kids (See link to Jack’s Tomorrow below)

GERMANY

Animal Models

Dr. Bettina Schmid at DZNE – German Centre for Neurodegenerative Diseases, Munich, Germany

Bioinformatics

Dr. Kathi Zarnack and Dr. Melina Klosterman at the Theodor Boveri Institute for Biosciences at the Univeristy of Würzburg, Germany

Cell Biology

Prof. Dierk Niessing, Estera Jeruzalska, Carolin Ketteler at the Institute for Structural Biology at Helmholtz Zentrum München, Germany and Institute of Pharmaceutical Biotechnology, Ulm University, Germany

Global Biobank

Prof. Dierk Niessing, Dr. Gabriele Anton, Simone Riebe-Züfle at Helmholtz Zentrum Muenchen, Germany

Immunology

Dr. Marcin Lyszkiewicz, Ulm University, Germany (See link to PURA Syndrome Poland below)

Structural Biochemistry

Prof. Dierk Niessing and Dr. Robert Janowski at the Institute for Structural Biology at Helmholtz Zentrum München, Germany

NETHERLANDS

Clinical

Dr. Margot Reijnders and A/Prof. Rob Rouhl at the Maastricht University Medical Center+ (UMC+), The Netherlands

POLAND

Dr. Magdalena Chrościńska-Krawczyk, Pediatric Neurologist, and Dr. Michał Bielak at the
Medical University of Lublin (See link to PURA Syndrome Poland below)

SPAIN

Neuromuscular Function in PURA Syndrome

Ruben Rabadán Ros, Ruben Zapata-Perez and Isabel López Sánchez at the UCAM Catholic University of Murcia

SWITZERLAND

Dr. Magdalena Mroczek, Neurologist at the University of Basel (See link to PURA Syndrome Poland below)

UNITED KINGDOM

Animal Models

Prof. Matthew Guille & Dr. Annie Godwin at the European Xenopus Resource Centre Portsmouth, UK

Clinical

Dr. David Hunt, Prof. Diana Baralle and Sophie Powell at the University of Southampton, UK

Global Patient Registry

Prof. Diana Baralle and Dr. David Hunt in the Faculty of Medicine at the University of Southampton, UK

UNITED STATES

Dr. Ilker Sariyer at the Lewis Katz School of Medicine at Temple University

Dr. Yong-Hui Jiang at the Yale School of Medicine (See link to Jack’s Tomorrow below)

Dr. Vincent Pons at Jackson Laboratories (See link to Jack’s Tomorrow below)

Dr. Stanley Iyardurai of Catalyst Pharmacuticals (See link to PURA Syndrome Poland below)

Other PURA Foundations

PURA Syndrome Australia

The PURA Foundation Australia is a non-profit charitable organisation, that has been established to provide national and local support systems for individuals diagnosed with PURA syndrome and their families, across Australia and New Zealand. Find out more about their researchers here.

PURA Syndrome Deutschland

A non-profit organization that represents the concerns and interests of PURA patients and their families and caregivers. Our group currently includes 25 families with affected individuals between the ages of 1 and 36. Find out more about them here.

Jack’s Tomorrow

At Jack’s Tomorrow, our mission is to fund research to develop a treatment – and ultimately a cure – for PURA Syndrome. Find out more about their researchers here.

PURA Syndrome Poland

The PURA Polska Foundation was founded out of the heartfelt need of parents of children affected by PURA syndrome and specialists supporting them. Our mission is to provide comprehensive assistance to children with this rare genetic disorder and their families. Find out more about them here.

Past Contributors to PURA Research

We are so grateful for the many researchers worldwide that have contributed to the knowledge base of PURA!

Prof. Guido Rubboli and Katrine Johannesen at the Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, Denmark
Dr. Seema Lalani at Baylor College of Medicine