News from the research
Here you will find current info from NBIA research and related research areas.
International NBIA Symposium held in Switzerland in October 2022
2020 fand das letzte NBIA-Wissenschaftlertreffen pandemiebedingt nur online statt. Im Oktober 2022 trafen sich nun endlich zum ersten Mal seit 2017 zahlreiche Akteure in der NBIA-Forschung wieder persönlich für 3 Tage zum 8. Internationalen NBIA-Symposium in...
Care guidelines for PLAN are now in the works
Übersetzung eines englischen Artikels von Patricia Wood Dank der Unterstützung von vier Organisationen, die das Projekt finanzieren, sind nun Konsensleitlinien für die Behandlung und Versorgung bei einer Form von NBIA, die als PLAN oder PLA2G6-assoziierte...
INAD gene therapy moves one step closer
Gekürzte Übersetzung eines englischen Artikels von Patricia Wood Die Arbeit an einer Gentherapie für Infantile Neuroaxonale Dystrophie, genannt INAD, bekam im Oktober einen großen Anschub, als eine Londoner Biotech-Firma ihre Absicht bekundete, dabei zu helfen, die...
PKAN study with CoA-Z completed in the USA
Die Oregon Health & Science University in Portland (USA) hat von 2019 bis 2022 mit einem neuen Präparat namens „CoA-Z“ zur Behandlung von PKAN eine erste klinische Studie für PKAN-Patienten in den USA durchgeführt. Dieser erste Studienteil wurde inzwischen...
Two MPAN project grants totaling $140,000 awarded.
Hoffnungsbaum e.V. In partnership with three sister organizations in Europe and the United States, has awarded two MPAN grants to advance research priorities in mitochondrial membrane protein-associated neurodegeneration (MPAN) ...
October 12, 2022, online lecture: Understanding hereditary developmental disorders better - what can be learned from the natural history of the disease.
Steffen Syrbe is a pediatric neurologist and professor of pediatric epileptology at Heidelberg University Hospital. He has been working with children with neurodevelopmental disorders for over 15 years. During this time, he has developed a strong interest in genetic causes of...
8th International Symposium on NBIA in Switzerland
NBIA scientists will meet to share their research Oct. 13-15 in Lausanne, Switzerland, as part of the 8th International NBIA Symposium. More than 20 scientists and physicians from around the world will present the results of their NBIA projects,...
Research project leads to a stem cell model of FAHN
A German team of scientists awarded a $45,000 research grant from the NBIA Disorders Association in 2020 has successfully produced a stem cell model of FAHN to help researchers better understand the disease and...
Pilot Grant of $69,775 announced for BPAN research.
The Million Dollar Bike Ride 2022 (Learn more about this fundraiser) raised $69,775, which has now been put out to bid by the Orphan Disease Center for a research project on BPAN. Researchers can apply for a pilot at the following link....
Press Release from CoA Therapeutics on Phase 1 Study for PKAN
We hereby issue the following press release from CoA Therapeutics: "CoA Therapeutics and BridgeBio Pharma present Phase 1 study data in healthy subjects to support the development of BBP-671 for PKAN and organic acidemias On May 26,...
