Enabling research on ADOA is the main goal of the Cure ADOA Foundation, because without research there’s no knowledge, without knowledge no treatment, without treatment no cure.
ADOA is rare and therefore unknown to many. Furthermore, there is not enough funding to start a research specifically aimed at our condition. There are several recent techniques and angles that give hope. We hope to join ongoing research aimed at repairing the retinal ganglion cell (optic nerve cell) or healing mitonchondrial disorders or gene and stem cell therapy.
National and international research
Many researches are still in the stage of understanding the full depth of the disease, i.e. investigating the exact cause of the disease. For example, in the Netherlands Dr. de Coo is active, see also: www.stichtingnemo.nl/ziekteverdieping-opa1-doa.
Various studies have been and are being carried out in Denmark, Germany, France, Italy, the United Kingdom, the United States, Shanghai and Canada. Orphanet’s website is a unique resource that collects and completes knowledge on rare diseases in order to improve the diagnosis, care and treatment of patients with rare diseases. ADOA and all its variants are also listed here, for more information: www.orpha.net.
Research into ADOA’s treatment and cure is limited, partly due to a lack of available funding. Therefore, we want to connect with the researchers who have done the most progressive research on ADOA and help them to continue their work to find a therapy and cure.
Database with patients
It is important that all patients with ADOA and ADOA+ are placed in one central database. So, all variations and mutations on the OPA1 gene are known. This was started in September 2019, see also the following article: https://pubmed.ncbi.nlm.nih.gov/31500643/?from_term=unique+variations+and+patients+registered&from_pos=1
LOVD’s database can be found here: https://databases.lovd.nl/shared/genes/OPA1.
If you have had genetic research done, would you please point the clinical geneticist’s attention to this database?