International collaboration on AHC research will give us impressive result very soon

Dear families,
Both sides of the Atlantic, Genetic research on AHC is going on with the aim to identify possible genetic mutations that were responsible for causing AHC..
The American AHC foundation AHCF is supporting several research groups in USA, and as you’ve been already informed, a European consortium gathering 3 genetic research groups (Italy – France – Netherlands) started a collaborative work by using samples kept in the Italian and French Biobanks, with the financial and logistic support of the French and Italian patient associations.

American and European research groups joined recently their efforts in a unique international project, thanks to a collaboration agreement, with the lead of an American genetic group; this collaborative effort caused an impressive progress of the research towards the finding of the genetic cause of AHC.

The scientific publication of this research is in progress and until then, none of the involved patient associations is authorized to give any specific information about it.
We hope that you will understand that, although we all would really love to share with you all the details of this research, at the same time we don’t want to endanger its publication among the scientific community thus compromising its value and its efficacy in producing further research.

As announced by AHCF, the details of the research will be presented by the leading team to the families attending their meeting in San Francisco (28 June – 1 July). Soon after that, we will ask geneticists from the European consortium, involved in this collaborative project, to prepare a written communication dedicated to European Families so that you receive the complete information and answer to main questions as about what could be next steps of the research.

In the meanwhile, the collaborative work of all the involved research groups is going on even more hardly, to exploit the results of this research, so that we hope to receive soon all the definitive answers about the genetic origin of AHC.
For this, it is important, now more than ever, that all the families support the work of the researchers by increasing their efforts in the fundraising and in the participation to the research, mainly through the Biobanks and the Clinical Registries.

We join AHCF in looking forward to sharing more information with you all and thank them for the continued collaboration in the support to the research.
Many thanks and best wishes to you all.

Rosaria Vavassori, A.I.S.EA
Dominique Poncelin, AFHA