Help FA in SA

FARA(A) Newsletter

noreply@blogger.com (Laurel Hosking) — Thu, 11 Jul 2013 11:42:00 +0000

Hi everyone,

here is a fabulous newsletter talking about what is going on in the
world of FA both here in Australia and Overseas. Great exposure of all
the amazing families working to raise money too....
Well done everyone

Scientists Find Way to Turn Stem Cells Into Brain Cells. Jason Koebler, U.S. News World. April 23, 2013.

noreply@blogger.com (Laurel Hosking) — Wed, 24 Apr 2013 00:08:00 +0000

Scientists Find Way to Turn Stem Cells Into Brain Cells. Jason Koebler, U.S. News World. April 23, 2013.
http://www.usnews.com/news/articles/2013/04/23/scientists-find-way-to-turn-stem-cells-into-brain-cells

Interesting article on Frataxin

noreply@blogger.com (Laurel Hosking) — Tue, 19 Mar 2013 01:30:00 +0000

Discovery of a Novel Small Molecule Inhibitor Targeting the Frataxin/Ubiquitin Interaction via Structure-Based Virtual Screening and Bioassays

http://pubs.acs.org/doi/abs/10.1021/jm3017199

Government Ammendments to NDIS Bill

noreply@blogger.com (Laurel Hosking) — Fri, 15 Mar 2013 01:19:00 +0000

http://jennymacklin.fahcsia.gov.au/node/2270?utm_source=Jenny+Macklin&utm_campaign=d40beedc4e-RSS_EMAIL_CAMPAIGN&utm_medium=email

A Pilot Study to Identify Asymptomatic Newborns at Risk for Friedreich Ataxia through the Analysis of Frataxin Levels in Dried-Blood-Spots

noreply@blogger.com (Laurel Hosking) — Thu, 14 Mar 2013 21:12:00 +0000

http://ww2.aievolution.com/acm1301/index.cfm?do=abs.viewAbs&abs=1498

Frataxin Blood Level Contributes to a Positive Diagnosis of Friedreich Ataxia, a Case Report

noreply@blogger.com (Laurel Hosking) — Thu, 14 Mar 2013 21:08:00 +0000

Frataxin Blood Level Contributes to a Positive Diagnosis of Friedreich Ataxia, a Case Report

http://ww2.aievolution.com/acm1301/index.cfm?do=abs.viewAbs&abs=1508

noreply@blogger.com (Laurel Hosking) — Sun, 10 Mar 2013 04:22:00 +0000

Heterochromatinization induced by GAA-repeat hyperexpansion in Friedreich's ataxia can be reduced upon HDAC inhibition by Vitamin B3

Cardiomyopathy in neurological disorders

noreply@blogger.com (Laurel Hosking) — Tue, 26 Feb 2013 00:51:00 +0000

http://www.sciencedirect.com/science/article/pii/S1054880713000045

Mitochondria in Pediatric Cardiovascular Diseases

noreply@blogger.com (Laurel Hosking) — Tue, 26 Feb 2013 00:50:00 +0000

http://link.springer.com/chapter/10.1007/978-1-4614-4599-9_12

Neuromuscular disease and anesthesia Romero Muscle & Nerve Wiley Online Library

noreply@blogger.com (Laurel Hosking) — Tue, 26 Feb 2013 00:48:00 +0000

Neuromuscular disease and anesthesia Romero Muscle & Nerve Wiley Online Library

noreply@blogger.com (Laurel Hosking) — Thu, 14 Feb 2013 01:53:00 +0000

Here is a very interesting article on Families in Australia and the struggles they have with recognition and diagnosis of rare diseases
Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support

FA lunch

noreply@blogger.com (Laurel Hosking) — Wed, 29 Aug 2012 07:50:00 +0000

Flat Invitations and Announcements by Vistaprint

Part 2 Letter from Ron Bartek

noreply@blogger.com (Laurel Hosking) — Sun, 15 Jan 2012 20:19:00 +0000

Here is part two from Ron.

-------------
Dear friends,

I had hoped to post within a couple of days a Part II to the message I
sent last week. Sorry to take so long. The reason for the delay,
however, is pretty good news. Jen Farmer and I have been spending a lot
of our time this week, as we have for some time now, communicating with
and about drug companies. Some of these constant communications are
with FARA's existing pharmaceutical partners (a baker's dozen or so).
Others are with companies that have come to FARA recently proposing that
we collaborate with them on compounds and therapeutic approaches they
believe show promise of being beneficial for FA patients. Others,
still, are with companies we are asking to consider partnering with some
of the leading FA scientists to develop the compounds these
investigators have "discovered" and with which they need additional
expertise and resources to move through pre-clinical and clinical
research.

You know a good bit about that first category of companies -- those with
whom FARA has been working for some time on drugs about which we are all
very hopeful. More about some of them later. Let me tell you just a
little about that second category of companies -- those that have been
approaching FARA seeking collaboration on compounds and therapeutic
approaches they believe could be beneficial in FA.

I'll give just a few recent examples. Last year, a small company,
Intellect Neurosciences, contacted FARA about a mitochondrial compound
they were excited about because of its strong potential for benefit to
FA patients. FARA met with the company several times to explore that
potential and, in September, Intellect Neurosciences announced it had
licensed its compound, OX-1, to ViroPharma Inc. of Exton, PA. Soon
thereafter, Jen Farmer, Kyle Bryant and I went to ViroPharma and gave a
full-blown presentation on FA and FARA to the entire company. The
company's passion and commitment were already much in evidence and they
have made it clear that they want to advance OX-1 promptly in FA and,
beginning immediately, to become a strong ally and partner to FARA and
the FA community. They have already begun to attend FARA scientific
meetings, like the Philadelphia Symposium, communicate with FARA
scientific advisors, and to devote staff and resources to getting
involved and being helpful in FARA events and activities nation-wide.

Several other companies, over just the last month or two, have
approached FARA about compounds they have in their portfolios and have
demonstrated to some extent in their own experiments some potential
benefit in FA. We continue the discussions with these companies so as
to review the potential for benefit and decide if collaboration on
further development makes sense. Obviously, not all of these proposals
will bear fruit but I think you will share our excitement over the fact
that FARA and the FA community have reached the tipping point at which,
finally, drug companies are actually seeking us out trying to convince
us that we should collaborate with them. For years earlier, FARA was
always the one that would approach the drug companies trying to convince
them to collaborate.

Finally, some of the companies that have been approaching FARA do not
have compounds of interest in their own portfolios. Rather, these
companies ask FARA to make recommendations of FA scientists whose work
holds potential for the company in terms of licensing a discovery for
clinical development. That, too, represents a real tipping point for
the FA community as we have been far more accustomed to knocking on
pharmaceutical doors looking for possible partners for FA scientists.

Currently, we are seeking near-term pharmaceutical partners for three FA
scientists including Dr. Mark Payne and his TAT-Frataxin program. Many
of you have seen his excellent publication at
http://hmg.oxfordjournals.org/content/early/2011/11/23/hmg.ddr554.abstract?ct=ct. As this article makes clear, Dr. Payne's TAT-Frataxin has demonstrated the ability in severely affected FA mice to increase growth and mean lifespan by 53 percent, and to increase mean heart rate and cardiac output. Dr. Payne and I plan to be in Houston together on January 26 to meet with a world-class cardiologist at the Texas Heart Institute to seek his assistance in elevating FA research in the global cardiology community. While in Houston, Dr. Payne and I will also be discussing next steps in securing the best possible pharmaceutical partner for his TAT-Frataxin program.

I'll stop here for now so as to keep this message at a readable
length. Will return as soon as possible with the next installment.

Warm regards,

Ron

Ronald J. Bartek
President
Friedreich's Ataxia Research Alliance (FARA)
P. O. Box 1537
Springfield, VA 22151
Tel (703) 426-1576
FARA website: http://www.CureFA.org
Email: fara@CureFA.org
Please register in the FARA Patient Registry at
http://www.curefa.org/registry/ and for e-news at
http://visitor.constantcontact.com/email.jsp?m=1101190303489

.

Letter from Ron Bartek part 1

noreply@blogger.com (Laurel Hosking) — Sun, 15 Jan 2012 20:18:00 +0000

Hi everyone,

Here is a letter from Ron Bartek regarding FARA and drug companies and
trials.
-----
Dear friends,
Wanted to provide the link to FARA's press release that we just posted
on the FARA website, providing some information on the HDAC inhibitor
and the imminent trial in Italy. Please see
http://www.curefa.org/_pdf/PressRelease01-05-2012.pdf.

I hope to be able to get back to the group later today with some
comments and perspectives regarding some of the drug development themes
in the group's recent discussions.
Warm regards to you all,
Ron

Press Release from FARA (US)

noreply@blogger.com (Laurel Hosking) — Fri, 06 Jan 2012 01:40:00 +0000

This is regarding the HDAC inhibitor we have been watching so
closely....
WONDERFUL

FOR IMMEDIATE RELEASE
New Clinical Trial in Friedreich's Ataxia in Italy

FARA, January 5, 2012 -- The Italian Health Ministry and the Ethics
Committee of the San Luigi Hospital in Torino, Italy, have given
investigators at the hospital approval to initiate a Phase I clinical
trial of a new drug designed specifically to treat Friedreich's ataxia.
After additional study site preparations, this Phase I trial will test
the Repligen drug, known as RG2833, in patients with Friedreich's
ataxia. The investigators will aim to find out whether the drug is safe,
and to learn more about its effects in Friedreich's ataxia patients. In
particular, they will determine if RG2833 increases production of
frataxin, a key protein that is diminished in people with Friedreich's
ataxia. Because lower frataxin levels are the base cause of Friedreich's
ataxia symptoms, it is hoped that, if RG2833 acts to increase frataxin
production, it could be beneficial to Friedreich's ataxia patients.
RG2833 is a type of drug called a Histone Deacetylase (HDAC) inhibitor
and is being developed by Repligen working with an international team of
scientists. HDAC inhibitors may provide a way to increase frataxin
protein production by "switching on" the frataxin gene, which is too
often "switched off" in people with Friedreich's ataxia. RG2833 has been
awarded orphan drug designation by the U.S. Food and Drug Administration
and the EMA. The development of HDAC inhibitors for Friedreich's ataxia
has been supported by FARA and other patient advocacy groups including
the Muscular Dystrophy Association and GoFAR. Repligen has indicated
that when the final preparatory steps are complete and the first patient
is enrolled in the Italian trial, more details will be made available on
the status of this study and global plans for the drug's development.
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

FAmily Forum

noreply@blogger.com (Laurel Hosking) — Mon, 21 Nov 2011 00:04:00 +0000

Mitochondrial Pathology in Parkinson's Disease

noreply@blogger.com (Laurel Hosking) — Sat, 19 Nov 2011 00:02:00 +0000

http://onlinelibrary.wiley.com/doi/10.1002/msj.20303/full

Changes in mitochondrial glutathione levels and protein thiol oxidation in ∆yfh1 yeast cells and the lymphoblasts of patients with Friedreich's ataxia

noreply@blogger.com (Laurel Hosking) — Sat, 19 Nov 2011 00:01:00 +0000

http://www.sciencedirect.com/science/article/pii/S0925443911002535

Analysis of Echocardiograms in a Large Heterogeneous Cohort of Patients With Friedreich Ataxia

noreply@blogger.com (Laurel Hosking) — Sat, 19 Nov 2011 00:00:00 +0000

http://www.sciencedirect.com/science/article/pii/S0002914911029390

A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins

noreply@blogger.com (Laurel Hosking) — Fri, 18 Nov 2011 23:59:00 +0000

http://www.sciencedirect.com/science/article/pii/S0002929711004393

Initial Experience in the Treatment of Inherited Mitochondrial Disease with EPI-743

noreply@blogger.com (Laurel Hosking) — Wed, 02 Nov 2011 00:13:00 +0000

This is potentially very exciting.
http://www.sciencedirect.com/science/article/pii/S1096719211003787

Patient Family Forum

noreply@blogger.com (Laurel Hosking) — Wed, 26 Oct 2011 09:39:00 +0000

FARA(A) announced it will be holding its inaugural patient family forum,
to be held on Sunday November 27th in Melbourne.

FA in SA is proud to be a part of this event, and we look forward to
seeing many patients and families at this wonderful event.

Further details to follow shortly

SA scientist to speak at FARA(A) Review meeting

noreply@blogger.com (Laurel Hosking) — Wed, 26 Oct 2011 09:28:00 +0000

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

noreply@blogger.com (Laurel Hosking) — Fri, 14 Oct 2011 10:36:00 +0000

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

noreply@blogger.com (Laurel Hosking) — Tue, 11 Oct 2011 23:14:00 +0000

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