Patient organizations

Association NBIA Poland

 

The NBIA Association in Poland was established to support research and treatment of rare neurodegenerative diseases of the NBIA group. The Association was established in December 2018 as a non-profit organisation, funded by member contributions, donor support, as well as research grants and government subsidies. It brings together 93 NBIA patients and their families. The main aim of the association is to improve the process of diagnosis and treatment of NBIA. The Association achieves its goals through targeted fundraising to support research projects and the development of NBIA therapies, and by disseminating knowledge and information about available NBIA research and treatment. It also collects a database of expert knowledge, organises meetings for scientists and doctors working on NBIA, and creates a network of doctors and patients in collaboration with the international network of NBIA patient organisations and experienced NBIA scientists from around the world.

AFM-Telethon

AFM-Telethon is an association of patients and their families created in 1958 to overcome the inevitable and cure rare genetic diseases. Committed to scientific research and to supporting patients and their families, AFM-Telethon acts independently, guided by the urgency of the progressive disease for the benefit of patients.The primary mission of the association is to cure neuromuscular diseases, which are rare, progressive and debilitating conditions. To achieve its goal, AFM-Telethon has chosen to implement a strategy of innovation and public interest to benefit all rare diseases as well as the most common diseases. The association creates and develops its own laboratories and tools to promote the understanding of diseases, the development of innovative therapies derived from the knowledge of genes and cells and their application in humans. Its principles of action are innovation and therapeutic efficacy.

PACS2 Research Foundation

The PACS2 Research Foundation is a non-profit organisation dedicated to advancing the development of the first treatment for an ultra-rare neurodevelopmental disorder (Developmental and Epileptic Encephalopathy 66) caused by a mutation in the PACS2 gene. The PACS2 Research Foundation is working to develop a treatment for PACS2 syndrome by funding research into the condition. The syndrome caused by mutation in the PACS2 gene, results in intellectual disability, drug-resistant epilepsy, psychomotor retardation, absence or severe delay of speech, and autism spectrum disorders.  The Foundation is committed to interdisciplinary and international collaboration, building and strengthening partnerships between patients, scientists and clinicians, and sharing experiences with other research foundations.