ATP1A3 in disease symposium in Rome

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Most of the current specialists on AHC where present at this meeting along with many of the patients association representatives from Europe and both AHCF and Cure AHC from the United States.

Dr. David Goldstein said that the technology of editing genomes is game changing because we are at a period where this technology is rapidly evolving so he is very excited to continue having these symposiums and keep the momentum going.


Dr. Muhamed Mikati showed the difference in episodes by showing videos of Matthew where is paralyzed on both sides and then another one where he has dystonia and also paralysis on one side.
DG – How fast can we go from finding the defective molecule to the drug?
MM – Depends on which molecule it will be but if it is a molecule that already has an established drug then the road to trial will be fairly quick, if not then we will have to go the usual steps of finding a substance (15 years of work)



The conversations during the breaks were very interesting and many researchers told us that parents taking part of the symposium makes a big difference because sometimes working in a lab does not give you much stimulation and the presentations and the videos make them realize that their work really does matter.



Summary by Dr. David Goldstein:  

Not many clinical differences but there is a difference in binding which is interesting.

Mouse models are on their way which is very important to be able to have good screening platforms.

We will improve the care for AHC children with new drugs that are tested on mice

Mutated cellular models are also on their way.  The cost of testing the mutation cellular models is very inexpensive

We want to share the compounds that are being tested and we are going to work together as a community.

We can learn from other disease areas and should do that.

Although we should remember that we are professionals and we have to protect our career  we should also be collaborative, open and honest

There are areas where we can cooperate and we should try to remember that in the near future.


More thorough description of the symposium can be found on CURE AHC webpage


Here are a few pictures from the symposium

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