SA scientist to speak at FARA(A) Review meeting

Dr Tara Pukala of the University of Adelaide, recently spoke of her work
in Genetic Protein Structure and the consequences for Human Disease.
FARA(A) has now invited her to share her research concepts at the
Scientific Review meeting to be held at end of November.

FA in SA is very excited by this, and looks forward to hearing more of
her exciting work

http://blogs.adelaide.edu.au/researchtuesdays/2011/09/14/infiltrating-the-cell/

http://www.adelaide.edu.au/directory/tara.pukala

Sunshine not so FREE

Please Share

When I was married, I was astounded at the massive profit margin on
anything to do with weddings!

When I was pregnant, I was astounded at the massive profit margins on
anything to do with babies!

When I became the mother of a disabled child, all the rest paled into
insignificance.

Society is often encouraged to get fit and stay active, and the
promotion of "free" activities like getting outside and walking or
running are favourites.... well there is nothing free about getting
outside for the disabled.

Basic equipment to enable the disabled are astronomical.... believe me,
getting into that sunshine, has never been so expensive.

Recently I was pricing a new accessory for a wheel chair, nothing much,
just a couple of handles attached to the axle. $5000. and that's
BEFORE the cost of the wheelchair.

A simple small crane to lift a mobility scooter into and out of the
car .... $6000

These are just a couple examples, but you get the idea.....Is this
covered by health insurance????

NO!

Does the government cover this?

NO!

Do Charities cover this?

TO A POINT!... but there are LONG cues... meanwhile we stay inside

So next time you are out walking and enjoying the sun, be thankful....
somewhere nearby where you are walking, there is probably a disabled
family, struggling to enjoy this basic free right!

Research news

Here are some reasearch items of interest

Mesenchymal Stem Cells Restore Frataxin Expression and Increase Hydrogen
Peroxide Scavenging Enzymes in Friedreich Ataxia Fibroblasts
http://www.plosone.org/article/info%3Adoi%2F10.1371%
2Fjournal.pone.0026098

DELIVERY OF MRNA FOR THE AUGMENTATION OF PROTEINS AND ENZYMES IN HUMAN
GENETIC DISEASES
http://www.freepatentsonline.com/y2011/0244026.html

Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct
Clinical Subtype of Neurodegeneration with Brain Iron Accumulation
http://www.sciencedirect.com/science/article/pii/S0002929711003971

Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich’s ataxia

This is interesting.

http://nar.oxfordjournals.org/content/early/2011/07/09/nar.gkr542.short

New project: Identification of the E3 ligase that ubiquitinates frataxin

Identification of the E3 ligase that ubiquitinates frataxin
Principal researcher: Dr Roberto Testi, Department of Experimental
Medicine,
University of Rome, 'Tor Vergata,' Italy
Scientific summary
Understanding whether and how frataxin is normally degraded might
provide insights
on possible strategies aimed at preventing frataxin degradation in FRDA
patients,
thus allowing frataxin accumulation and increasing frataxin
bioavailability. We
observed that frataxin is degraded via the ubiquitin-proteasome system
and that by
preventing the degradation process, frataxin levels in fact rise in FRDA
cells. We also
identified the lysine responsible for ubiquitination. In fact, a
frataxin lacking the critical
lysine cannot be ubiquitinated and has a longer half life. We now plan
to identify the
E3 ligase(s) that interacts with frataxin and mediates frataxin
ubiquitination. This
information should reveal new potential pharmacological targets for
FRDA.
Lay summary
FRDA is caused by the low levels of the protein frataxin in cells of
affected
individuals, due to scarce production. Since normally all proteins are
constantly
produced and degraded, one way to possibly increase frataxin levels is
to slow down
its degradation. We therefore started to understand the mechanisms by
which
frataxin is degraded in human cells. The aim of this project is to
refine our
understanding of the modalities of frataxin degradation and to further
elucidate the
molecular mechanisms. This information could be instrumental in
developing new
therapeutic approaches focused on preventing frataxin degradation.
This project is co-funded with the Friedreich's ataxia Society Ireland
(FASI).
For more support or information please contact: Ataxia UK, Lincoln
House,
Kennington Park, 1 – 3 Brixton Road. London SW9 6DE
Website: www.ataxia.org.uk.
Helpline: 0845 644 0606 Tel: +44 (0)20 7582 1444 Fax: +44 (0)20 7582
9444
Email: helpline@ataxia.org.uk.

FARA Press Release

FOR IMMEDIATE RELEASE
EPI-A0001 Improves Neurological Outcome Endpoint in 28-Day Phase 2A
Double-Blind Placebo-Controlled Clinical Trial in Friedreich's Ataxia
Clinical trial being designed to confirm encouraging results
FARA, June 11, 2011 – In its release issued Friday, Edison
Pharmaceuticals, Inc.
announced that EPI-A0001 significantly improved neurological function as
assessed by the
Friedreich's Ataxia Rating Scale (FARS). The trial did not show
significant improvement in
the primary endpoint of glucose disposition index (a measure of the
body's glucose
handling). The three arms of the trial consisted of placebo, low dose
and high dose of
EPI-A0001. The FARS scores improvements were reported to be
statistically significant in
both the low and high dose groups when compared to the placebo group.
There were no
differences between the placebo group and the two drug-treated groups in
the rates of
drug-related adverse events.
Dr. David Lynch, the principal investigator of the trial, said, "We are
working closely with
Edison, the U.S. Food and Drug Administration (FDA) and our colleagues
in FARA's
Collaborative Clinical Research Network in Friedreich's Ataxia to design
extended duration
clinical trials to verify this encouraging data." FARA President Ron
Bartek added, "FARA
would like to thank the patients and patient families who participated
in this very
promising clinical trial. We look very much forward to working with the
FA patient
community, Edison and the clinical investigators as EPI-A0001 takes its
next steps through
clinical development toward the treatment goal for which we are all
striving together."
FARA has been involved in the development of EPI-A0001 from its
pre-clinical
development stage. In 2006, Dr. Robert B. Wilson, Edison Pharmaceuticals
and FARA as
co-applicants were accepted into the National Institutes of Health Rapid
Access to
Intervention Development (RAID) Pilot Program. Support by this NIH
program accelerated
EPI-A0001 clinical development. Additionally, FARA has awarded multiple
grants to Edison
for the development of both EPI-A0001 and EPI-743. FARA will continue
working hand-inhand
with Edison, the investigator team, and the patient and physician
community to
begin implementation of further EPI-A0001 prospective trials.
About FA
FA is a rare, degenerative, life-shortening neuro-muscular disorder that
affects children
and adults and involves the loss of strength and coordination usually
leading to wheelchair
use; diminished vision, hearing and speech; scoliosis (curvature of the
spine); increased
risk of diabetes, and a life-threatening heart condition. There are
currently no effective
treatments.
About FARA
The Friedreich's Ataxia Research Alliance (FARA) is a 501(c)(3),
non-profit, charitable
organization dedicated to accelerating research leading to treatments
and a cure for
Friedreich's ataxia. www.CureFA.org
Contact:
Jennifer Farmer
Executive Director, Friedreich's Ataxia Research Alliance
(484) 879 6160
info@curefa.org

important press release and HOPE

Hi everyone,

here is an exciting press release, and WHY fundraising dollars are so
important.

cheers

Laurel