Friday, December 10, 2010

South Australia gets National Representative

FA in SA is delighted to announce that South Australia now has a
representative on the Australasian Board of FARA(A). Laurel Hosking
recently accepted an invitation to join the board, and further the
research and awareness into Friedreich Ataxia. For further information
on Friedreich Ataxia, please go to www.fainsa.org

Thursday, December 2, 2010

Wednesday, December 1, 2010

FARA(A) Scientific Review Meeting Update

First of all, I have to say WOW!. This was FARA(A)'s 7th review
meeting, and my 4th. Gone are the days of sitting around a boardroom
table. We were in a lecture theatre, and there were probably about 80
or so scientists and researchers etc there, all working on FA...
WONDERFUL.

Varlli Beetham once again did an amazing job organising this, and
straight after the Victorian Ball, the woman is incredible!

Ron Bartek president of FARA (US) was present, and it was wonderful to
chat to him, and hear his views on all thing FA ( and fishing:->)

ok, now down to some nitty gritty.... I am going to be fairly general,
as alot of the presentations ( of which there were 20) are for work,
which has yet to be published, so out of respect for these wonderful
people I will report broadly.

( bear with me, I have five pages of notes to wade through)

1/ Induced Pluripotent Stem Cells (IPS Cells ).

This is exciting!. FA has established priority in the IPS bank in
Australia, which means amazing resources for scientists not only here
but around the world.... The big aspect I got out of this, is the field
we hear little about.... Stem cells for pharmaceutical reasons.
Basically this means that stem cells.. particularly IPS cells, can be
used for drug screening, giving what is hoped, a step ahead of mouse
model testing.

The trouble with mouse model testing, is that mice are not human, so
often what works in a mouse does not work in humans. By testing on IPS
cells, the drug screening is already being tested on human cells.

Also as IPS cells can be collected at any time or any stage of FA, ( or
any disease for that matter), drugs can be developed to target THAT
stage of the disease.

Another aspect of Stem cells and IPS cells, is they are now developing
cardio myocytes which beat independently of the host pulse.

IPS cells are also being developed towards nerve cells, which send
electrical impulses independently of external factors.

Ron Bartek announced that the work Australia is doing with stem cells,
particularly IPS cells is extraordinary, and we are truly leading the
world and providing the inspiration for others.

Staying on the cellular level, there has been research linking frataxin
levels and the FARS scores, and aspects of lenti virals in the delivery
of frataxin.

2/Mouse Models

Even though above I mentioned the use of IPS cells instead of mouse
models, there is still an important place in the use of mouse models, in
the development process. One of our amazing Scientists, has now
developed an FA mouse model which is now accessible all around the
world...

There has also been some interesting work being done on the effect of
iron loading on a cellular level.... will watch that with interest.

Here are some interesting stats for those inclined, which came out
during a mitochondrial discussion.
on average, we use
65kg of ATP a day
380L of O2 per day
100 cal per HOUR = 116 watts.

3/Auditory Function
FA patients tend to hear better from the side rather than front on, this
is because of the timing cues in both ears....

Background noise becomes a significant problem as these cues are missed
or lost.

FARS score is linked to the hearing disability.

4/Speech

There seems to be some evidence that Idebenone can assist with the
speech side of FA.

What is noticed is that FA patients, tend to have longer periods of
contact with the Palate, which means slower transitional movement.

Speech therapy to develop exercises and a physio for the tongue and
larynx and breathing can make a world of difference. Qld university is
hoping to develop this using technology to consider distance and
disability with regards to therapeutic approaches.

5/Rehab

There was also a talk on the benefits of Rehab and physio for FA
Patients.

Emphasis on Safety and risk management, hip and pelvic and spinal
placement, spacisity, communication etc.

Structured therapy on these and other areas, suggested a slowing down of
FA progression, and a prolonged positive effect over time.

Still on Allied health matters, There is also work being done on the
task management in FA patients and the effect that occurs, in the way it
is approached. ie visual cues benefit task management.

6/FARA Pipeline.

I am hoping to get a visual of this current pipeline of research, but
here is one from the web for 2009. let me just say, it has
significantly grown and developed, but this is worth a good look. If the
image does not come through, here is a URL.

http://www.curefa.org/pipeline.html

7/ Resveratrol

Lastly, but sadly my plane would not allow me to hear about it. There
was a discussion on a potential drug trial in Australia on Resveratrol.
I will report back after I have found out more details.

So dear friends that is it in a nutshell.... it was a very long day, but
oh so exciting.....

Keep the light burning, these researchers are dedicating their lives to
finding treatments and cures, and it is AMAZING... as an aussie I am
proud of the torch we are carrying in this field.

Laurel
FAinSA