Understanding PURA Syndrome
First described in 2014, PURA syndrome is a rare neurodevelopmental disorder. Patients experience developmental delays, seizures, low muscle tone, feeding and breathing difficulties, and learning challenges. More than 40 individuals in Germany and over 800 patients worldwide have been diagnosed with the syndrome.
Since its founding in 2023, PURA Syndrome Deutschland e.V. has focused on raising awareness, supporting affected families, and funding research to advance understanding and treatment of the disorder.
Research at Helmholtz Munich
Dierk Niessing’s laboratory studies RNA-related disorders, with a particular focus on the rare condition PURA syndrome. The researchers use stem cell–based models to understand how PURA mutations disrupt cellular processes and to explore potential therapies. In addition, the lab has recently established a PURA Biobank at Helmholtz Munich to support research using patient-delivered samples. Researchers maintain close ties with the PURA community, sharing research updates and helping organize events such as the Annual International PURA Syndrome Conference.
Patient Community Donates to Advance Research
The donation was formally presented to Niessing by Lisa Obst, a board member of PURA Syndrome Deutschland e.V. “We are deeply grateful for the commitment and trust shown by the PURA patient community,” said Niessing. “Their support is invaluable in helping us translate laboratory discoveries into meaningful advances for patients and families.”
About PURA Syndrome Deutschland e.V.
PURA Syndrome Deutschland e.V. represents PURA patients and their families in Germany. The association fosters networking, information sharing, and research communication, organizes regular family meetings, and coordinates the German-language PURA family gathering as part of the global PURA Syndrome community.
Contact
Prof. Dr. Dierk Niessing
dierk.niessing@helmholtz-munich.de
