AHC SYMPOSIUM UPDATE
Last December, there was a medical symposium held on AHC in Brussels, Belgium. The following summary about the symposium was shared with us by Dominique Poncelin, president of the AHC family foundation in France.Following the first genetic discovery of a gene responsible for AHC (ATP1A3), this symposium was organized by Dr. David Goldstein (Duke University) and Tsveta Schyns (ENRAH). The symposium was sponsored by ENRAH and various AHC patient organizations from Europe and the United States (including the AHCF). Approximately 50 researchers/doctors from the United States, Canada, Europe, and Japan attended the symposium along with some AHC patient representatives. While it was not possible to appreciate some of the presentations (too much technical), I found those interesting points:
1. German and Japanese groups (25 cases each) found mutations on 100% of screened cases while Utah and Europe groups on about 75% only.
2. Italian group (Rome) found that there should be a relationship between type of mutation and severity of the disease; however this point is not confirmed up to now by others.
3. Japanese doctors made contacts with Europeans and might be interested in joining the Genotype/Phenotype study.
4. German group did not answer clearly if they are interested or not to collaborate.
5. Geneticists from the Netherlands, France, Italy, and Duke did some improvements in their collaboration for further research to find new genes responsible for AHC.
6. The Genotype/Phenotype current project will involve several geneticists and clinicians from France, USA (Duke), England, Italy, Spain. It will concern at least 100 AHC cases.
7. One aim of the meeting was to point out common points between RODP and AHC diseases as they are concerned by the same gene ATP1A3. However, it was rather disappointing that clinical manifestations and progression of the disease seemed to me rather different.
8. I concluded the symposium with my presentation. On behalf of all AHC patients’ representatives, I so dedicated the first gene discovery to passed away children (31 during those past 15 years) and giving their first name and country of origin. Not easy to do, but I am glad it has received a very positive echo from the researchers (some of them told directly to me that involvement of families is the most important help for their research.)