A couple of weeks ago, I attended the FARA(A) Scientific Review Meeting
in Melbourne. This is their 5th National Meeting, and the room was
packed. There were over 40 scientists and researchers there all ready
to share and discuss their work on FA.
As alot of the work is still ongoing and yet to be published, I will,
out of respect for these wonderful people, keep my comments general.
The start of the day was all about stem cell research, with particular
interest in IPS ( induced pluripotent stem cells). I recently saw a 7
minute grab from a Aussie TV show ( Catalyst) which was presented by the
same team, and gives a pretty good description on where they are. See
following link
http://www.abc.net.au/catalyst/stories/2608076.htm
This was followed by discussion on developing FRDA IPS, and extracting
the GAA expansion to enable them to be returned to the host..... VERY
exciting work here.
Later we had a very enlightening talk about the cardio side of FA. one
of the things that stood out in my mind, was the concept of perhaps we
should stop calling FA heart conditions, HCM. There are many variables
that just don't fit it into that diagnostic box. The measurements, as
well as the function is unique to FA, and tends towards a correlation to
the GAA1 and GAA2. It certainly got me thinking about who we should be
seeing for cardio.
Another enlightening talk was on Audiology. The issue with FA is not the
hearing, but the processing. In all subjects tested. 100% of those
with FA had some level of processing trouble. A good example is, when
you are in a crowded room and hearing becomes a strain because of the
background noise. This becomes important in school/study situations. One
avenue to help this is FM listening devices. Certainly FA'ers should
try and organise Central Auditory Processing Testing, to determine where
they are, and possibly adjust accordingly.
This then lead into speech function.... after a long discussion it is
possible that tounge " gym workouts" can help in this area. This was
more from the parents observations. However what came out of this, was
the importance of the input from the parents/carers, and their years of
daily study and experience, and how invaluable it all is.
Mouse models.
this although sounding mundane had an important breakthrough. In the
past mouse models have been varying and carefully guarded around the
world. None have been perfect and as a result, testing and results are
dependant on the mouse model used. It has been announced that now a
universally accepted mouse model has been accepted and is now being held
and available from JAX. ( Jackson). This is great as it means everyone
is using the same " playing field".
There are a few things that came home with me and left an impression.
1/ the importance of a good cardiologist who understands the
relationship of FA and the heart.
2/ the importance of a good auditory assessment
3/ the importance of constant on going gym and physio work
4/ the excitement over the HDAC inhibitors. ( personal note: is this the
"holy grail?")
Sorry this has been so long in coming out.... Seasonal issues, as well
as just mentally processing and weeding out the important stuff.
The good news is, there was passion in the room, and the WANT to find a
cure/treatment.... all these scientists and their departments vying
towards a common goal. Although a serious subject, the mood was light
and friendly and happy.
hope is that 2010 will get us even closer to what we all long for
cheers
--
Laurel Hosking
Help FA in SA
mob: 04204 98963
ph: 08 72212045
fax: 08 85221313
laurel@linvid.com
