FA Hope abounds

Hi Everyone,

I wanted to give you some general feedback into what was discussed at
the FARA Review Meeting last Thursday.

The Researchers and Scientists covet their studies very closely, so
anything I say here will be of a general nature out of respect for their
work.

Stem cells were the major theme for this years meeting. With many
interesting developments, including research into avoiding rejection of
stem cells by using one owns stem cells,and removing the affected FA
part.

Other Stem Cell work uses Virus to help with the reproduction of cells.
Apparently the virus stops dead after initiating cell growth.

EpiGenetics is fascinating. Instead of using regular gene therapy, it
uses an inhibiting agent to attach to the gene and turn the gene off. A
compound to turn the FA gene off, was found in UCLA last year... so that
is very exciting.

lab work is continuing on the Frataxin protein with promising findings
on Frataxin levels in FA patients, Carriers and non carriers.

Trials abound. Word on Idebenone ( for those not already using it) is
that it should be available to patients by the end of 2009.
Deferiprone trial is about to start in australia. Unfortuately there
are only 2 definate participants with 2 more maybes. they had hoped for
10, but will add this data to the worlds. If you know anyone between
7-17 with FA they may be interested in participating.

Other trials are happening around the world with some held up in
Ethics...

Antioxidants... some research is suggesting that antioxidants are not
the panacea we had hoped, however, idebenone DOES target the heart in a
positive way, and help some neurological aspects so there is a
suggestion there are factors at work other than straight antioxidants.

FA testing models were discussed with the conclusion that "the wheel" is
still not perfect and still upto fine tuning.

Audiology. WOW:- there was a presentation on this front which was
eyeopening. It has been found ( for the most part) that FA sufferers
have normal hearing on general sound testing... even cochlear testing
brings normal results.

However, when the time delay of hearing was tested, it was found that FA
sufferers often had problems with the speed they " hear" the sounds...
this then leads to the speed of processing the sound, and it was found
in general, that FA sufferers depending on their hearing speed had
problems with processing what they hear.... for eg, the more background
noise there is, the harder it is to distinguish certain aspects of
speech.. What is not being tested generally is this hearing speed/
processing speed..... So if you attend the clinic, it may be worth
asking Louise ahead of time if you can get this tested.

On the clinic, they have about 120 attending the clinic, with most from
Vic, NSW and QLD, and 4 from SA ( its a start)... none from WA as yet,
but distance is a considerably factor. On that front... you do all
realise that you can apply for distance rebate on your travelling and
accommodation to attend the clinic. Just ask Louise Corben about it.

Unfortunately, as the day was running a bit overtime, I had to leave to
catch a plane, and missed most of Louise Kenetic presentation, but as
you can see above there is HOPE, and they ARE getting closer.... the
fact that Idebenone is so close to being available and that we now have
a trial happening in Australia is a huge step.

Hope this has provided you with something interesting... if you have
further questions I will try and shed some light on them... still
processing it all myself.

Merry Christmas to you all, and hope and happiness for 2009

--
Laurel Hosking
Help FA in SA
mob: 04204 98963
ph: 08 85221167
fax: 08 85221313
laurel@linvid.com

Drug Trial here in Australia

Well it is finally here!.. Recruitment is starting for a "six-month
double-blind, randomized, placebo-controlled study investigating the
safety and tolerability of deferiprone in patients with Friedreich's
ataxia. "

This is a world wide study being run in Europe, Australia and Canada.

Criteria seems to be "7 to 35 years of age, has a confirmed genetic
diagnosis of FRDA with number of GAA repeats greater or equal to 400 on
both copies of DNA, has a score between 20 and 85 on a neurological exam
known as Friedreich's Ataxia Rating Scale (FARS), has a negative urine
pregnancy test (if applicable) before the research study starts and is
currently not participating in another research study. "

further information, on

Name: Ms Geneieve Tai

Role: Research Coordinator

Telephone: (03) 8341 6374

cheers all

--
Laurel Hosking
Help FA in SA
mob: 04204 98963
ph: 08 85221167
fax: 08 85221313
laurel@linvid.com

News since the ball...

Hi,

Next month I will be attending the Grants round meeting of FARA(A) in
Melbourne. I recently had a wonderful luncheon meeting with the
Executive Director Varlli Beetham. She had come across to SA to speak
to Trinity College students, who have embraced FARA as their yearly
fundraiser. During this Assembly, the students presented Ms Beetham
with an initial chq for almost $400.... not bad for a couple of gold
coins thrown in a classroom jar.

As a part of this presentation, Billys slide show on FA was shown to the
entire school, and now the major fundraiser of Tea towels is about to
kick off.

As part of our meeting, we discussed the importance to get neurologists
on side here in SA. This is vital for the establishment of any drug
trials here in SA, plus the long term goal of an SA clinic.

As you can guess, I " dobbed in" billys neurologist, who has accepted an
invitation to attend the grants meeting and meet with FARA and be
involved first hand.

As you can see, things are still ticking along.

cheers everyone

Laurel

next years event

Hi everyone.

a bit of advance notice... next years fundraising event is to be held on Saturday 1st August from 7pm... more details to follow closer.

cheers all
Laurel

Ball Summary

Hi everyone,
I wanted to share the success we had at our first Ball for FARA, here in
South Australia.

It was an smallish affair, but BOY did we make up for it with laughter
and frivolity.
The evening started with the MC, demanding a $10 donation everytime
someones mobile phone rang, and continued in this VERY merry way to
people throwing in $50 notes for a raffle for their table centre ( vase
of flowers).
The Silent Auction saw bidding wars, which almost lead to " marker pens
at 10 paces", and the Band, encouraged two men from the audience to come
up and be the " boys from ABBA"... need I say more?

At midnight the band finnished up, much to the dismay of the guests, and
the party moved into the neighbouring Bar for the next few hours.

Big Thankyou to A/Prof. Martin Delatycki for attending and speaking.....
He opened alot of peoples eyes, who then opened their wallets.

The best thing, is that everyone wants a repeat next year.

Cheers everyone

Laurel

news!

http://www.santhera.com/index.php?docid=212&vid=&lang=en&newsdate=200807&newsid=1238090&newslang=en

Published: 07:00 24.07.2008 GMT+2 /HUGIN /Source: Santhera
Pharmaceuticals Holding AG /SWX: SANN /ISIN: CH0027148649

July 24, 2008: Santhera Receives First Product Approval: Health Canada
Approves Catena® for Treatment of Friedreich's Ataxia

Santhera Pharmaceuticals (SWX:SANN), a Swiss specialty pharmaceutical
company focused on neuromuscular diseases, announced today that Health
Canada has approved with conditions SNT-MC17/idebenone for the treatment
of Friedreich's Ataxia. Health Canada's decision is the first marketing
authorization worldwide for any Friedreich's Ataxia therapy. The new
drug will be marketed in Canada under the brand name Catena®. Santhera
has established a wholly owned Canadian subsidiary, Santhera
Pharmaceuticals (Canada), Inc. recently incorporated in Montréal,
Quebec, to address the needs of Canada's several hundred patients with
this rare and severely progressive muscle disease. Launch of Catena is
anticipated for the end of October 2008.

In clinical studies submitted to Health Canada as part of the approval
process, Catena showed statistically and clinically relevant
improvements in Friedreich's Ataxia patients, as measured by Activities
of Daily Living scores as well as cardiac and neurological functions.
The approved product labeling allows for the treatment of symptoms of
Friedreich's Ataxia. Two doses are approved: a starting dose of
450 mg/day for patients below 45 kg body weight and 900 mg/day for
patients above 45 kg body weight whereby treating physicians have an
option to dose up to 1,350 mg/day for patients below 45 kg body weight
and up to 2,250 mg/day for patients of more than 45 kg body weight if
needed. Under the conditions of the Notice of Compliance with
Conditions, Santhera has agreed to submit additional data from its
ongoing phase III clinical trial in the United States to confirm the
efficacy of the therapy.

Klaus Schollmeier, Chief Executive Officer of Santhera said: "We are
very pleased about this market authorization by the Canadian authority.
Health Canada concluded that the data presented were promising enough to
allow Catena's approval for the benefit of patients now while requiring
confirmatory efficacy data when they become available. Today's approval
is a major milestone for the Friedreich's Ataxia community in Canada and
elsewhere. For the first time, physicians will be able to offer patients
an approved, safe and efficacious therapy to treat their devastating
disease." He continued: "This first marketing authorization marks a
significant event for our Company, one that has been our goal since the
inception of Santhera in 2004. Today, Santhera's vision of offering
therapies for orphan indications is becoming reality. The entire team at
Santhera is energized by this success and is even further encouraged to
work towards approvals in other regions."

MJ Roach, VP Marketing & Sales and Santhera's General Manager for North
America, commented: "Canada's marketing authorization provides an
excellent foundation to establish a medical and marketing platform in
North America for the treatment of rare neuromuscular diseases in
general and for Friedreich's Ataxia in particular. The Canadian market
will also provide valuable insights for launching the product in the
United States, once the ongoing clinical trial is completed and the
product is approved. We look forward to working with physicians in
Canada who prescribe Catena to Friedreich's Ataxia patients."

Update on ongoing phase III clinical trial

In the United States, the IONIA (Idebenone effects On Neurological ICARS
Assessments) phase III trial has currently enrolled 41 patients. It was
agreed with the US Food and Drug Administration under a Special Protocol
Assessment process to recruit a minimum of 51 patients but to include
more patients if available. Given the current prospects for patient
availability, Santhera and its US clinical investigators believe that
the final study will include about 60 to 65 patients.

Conference call

At 19.00 CET / 18.00 UKT / 13.00 EST on July 24, 2008, Santhera will
host a conference call. Anyone interested in participating may join the
teleconference facility using the following dial-in in Switzerland
+41 52 267 07 36. The conference call will be recorded for playback and
is available one hour after the conference call ends and for 20 days
under +41 52 267 07 00 (reference no. 668713).

About Friedreich's Ataxia

Friedreich's Ataxia is a rare but severe genetic neuromuscular disorder
that results in the degeneration of an individual's nerve and muscle
tissue. This disorder causes loss of muscle control, uncoordinated
movements, muscle wasting and thickening of heart walls which frequently
leads to a shortened life span. Friedreich's Ataxia affects both
Caucasian males and females equally and it is estimated that about
20,000 patients suffer from the disease in both North America and
Europe. Average life expectancy for Friedreich's Ataxia patients is
limited to approximately 35 to 50 years.

The disorder results from a genetic defect in the gene encoding for
frataxin. Reduced levels of this protein ultimately result in impaired
energy production in mitochondria, the cells' energy production centers,
and elevated oxidative stress. Tissues that have the highest need for
energy, in particular nerve and cardiac tissues, are primarily affected
by frataxin deficiency resulting in pathological changes in heart muscle
anatomy and function and loss of nerve cells.

About Catena®

Catena may be useful in the symptomatic management of patients with
Friedreich's Ataxia. The drug is believed to increase the supply of
energy to cells in the body. Additionally it has antioxidant properties
and may protect the cells in the body which are damaged by the disease.

Catena® is a trademark of Santhera Pharmaceuticals, registered in Canada
and the United States.

About Notice of Compliance with Conditions

A Notice of Compliance with Conditions (NOC/c) is an authorization to
market a drug in Canada issued by Health Canada, indicating that the
sponsor has agreed to undertake additional studies to confirm the
clinical benefit of the product. A market authorization under the NOC/c
policy allows Health Canada to provide earlier market access to
potentially life-saving drugs. Eligibility for an NOC/c is restricted to
promising new drug therapies intended for the treatment, prevention or
diagnosis of serious, life-threatening or severely debilitating diseases
or conditions for which a) there is no alternative therapy available on
the Canadian market or, b) where the new product represents a
significant improvement in the benefit/risk profile over existing
products. Once a sponsor provides satisfactory evidence of the drug's
clinical effectiveness, and all the conditions agreed upon have been
met, Health Canada will remove the conditions associated with market
authorization in favor of a full approval.

* * *

About Santhera

Santhera Pharmaceuticals (SWX:SANN) is a Swiss specialty pharmaceutical
company focused on the discovery, development and marketing of
small-molecule pharmaceutical products for the treatment of severe
neuromuscular diseases, an area of high unmet medical need which
includes many orphan indications with no current therapy. Santhera
currently investigates three compounds in five clinical-stage
development programs. The Company's first product, SNT-MC17 (INN:
idebenone) has received a marketing approval with conditions from Health
Canada to treat Friedreich's Ataxia and will be marketed under its brand
name Catena. The product is also under review by health authorities in
the EU and in Switzerland for the same indication, while in the United
States a pivotal phase III trial is recruiting patients.
SNT-MC17/idebenone has also shown efficacy in a phase II clinical trial
as a potential treatment for the indication Duchenne Muscular Dystrophy.
For further information, please visit www.santhera.com.

For further information, contact

Klaus Schollmeier, Chief Executive Officer

Phone: +41 (0)61 906 89 52

klaus.schollmeier@santhera.com

Barbara Heller, Chief Financial Officer

Phone: +41 (0)61 906 89 54

barbara.heller@santhera.com

Thomas Staffelbach, Head Public & Investor Relations

Phone: +41 (0)61 906 89 47

thomas.staffelbach@santhera.com

Disclaimer/Forward-looking statements

This communication does not constitute an offer or invitation to
subscribe for or purchase any securities of Santhera Pharmaceuticals
Holding AG. This publication may contain certain forward-looking
statements concerning the company and its business. Such statements
involve certain risks, uncertainties and other factors which could cause
the actual results, financial condition, performance or achievements of
the company to be materially different from those expressed or implied
by such statements. Readers should therefore not place undue reliance on
these statements, particularly not in connection with any contract or
investment decision. The company disclaims any obligation to update
these forward-looking statements.

News release Approval Canada

more on A0001

Below are two emails... one from Paul Konanz and the other from US FARA
president Ronald Bartek
-----------------------------------------------------

Hello all,

I'd like to follow Paul's excellent comments with some information FARA
has obtained about the A0001 trial. This information reinforces Paul's
points about the format of this trial as compared with the Idebenone
trial and may help answer some of your questions.

The phase I trial of A0001, as stated in the release, is in healthy
volunteers. It is being conducted by a Contract Research Organization
(CRO) that was chosen by Penwest Pharmaceuticals and with which FARA has
no dealings. This is, by the way, the more typical way phase I trials
are conducted (by CROs in healthy volunteers that they have on their
rolls). I believe phase I of the Idebenone trial was conducted,
atypically, in FA patients primarily because Idebenone had already been
"in a lot of people." Idebenone had been tried at low doses in a number
of other diseases such as Parkinson's, Huntington's and Alzheimer's, and
had been taken by a lot of healthy people as an anti-aging or
brain-function aid. So, the FDA agreed the Idebenone phase I could be
in FA patients. Similarly, the iron chelator Deferiprone and EPO have
both been "in a lot of people" with other indications, so the phase I
work, or pilot studies, in those two drugs have been conducted in FA
patients.

A0001, however, has not been "in a lot of people" so the FDA suggested
beginning with the typical phase I approach - in healthy
volunteers. FARA has not seen the protocol for this phase I study of
A0001 and would not usually need to see it. My understanding is,
though, that carrier status would usually disqualify a potential
participant. I believe healthy participants are usually young students
with no involvement at all with the disease in question. CROs normally
recruit the healthy volunteers very quickly from their own rolls and ads
and have no trouble doing so. This A0001 phase I trial, for example, is
to use only 60 healthy volunteers and 10 of them were dosed on the very
first day (last Friday).

As Paul states, phase I of this trial, like all phase I trials, will
focus on safety. Like the phase I of Idebenone, it will look at safety
in a dose-escalating manner and will attempt to identify the maximum
tolerated dose. Data from this phase I trial will be used to establish
safety of A0001 in humans and will help instruct selection of the best
doses to use in the phase II in FA patients.

We will ALL be VERY much involved in the phase II of the trial, of
course, and FARA will let everybody know about timing and
inclusion/exclusion criteria, etc. We are in constant contact with the
drug companies involved, on a daily basis, and will be working very hard
to accelerate their timelines. FARA's Scientific Advisors and Board of
Directors meet at the end of next week and we will review, based on
reports we are now receiving from all the drug companies, the schedules
and timelines for all the clinical trials currently underway and coming
up. Of course, we will let everybody know the results and how you can
help.

In preparation for all these clinical trials, please make sure all FA
patients are signed up in the FARA Patient Registry and for FARA's
electronic bulletins and newsletters.

Hope this helps.

Warm regards to all,

Ron

(Ron & Raychel; Keith-22-FA; Byron-24-clear; Stuart-19-carrier)

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

--- On Wed, 7/16/08, Paul Konanz wrote:

From: Paul Konanz

Subject: [FAPG] Edison A-0001 Phase I Trial Participants
To: fapg@fortnet.org, internaf@yahoogroups.com
Date: Wednesday, July 16, 2008, 10:11 PM

Reminder on the Edison A-0001Phase I Trial

It is wonderful news that one more possible FA treatment is starting FDA trials, with the announcement of the Edison A-0001 Phase I trial.
One note is that this Phase I trial is to completely focus on safety in human subjects using non-FA-involved participants. In the press release
it says, "The phase I clinical trial just initiated by Penwest Pharmaceuticals will be conducted in healthy volunteers...".

For sure this means no FA'ers will be involved and very probably no carriers (parents, siblings, etc) either. I have little information
on the protocol at this time (this trial is not on the NIH trial page). Looking at the Idebenone Phase I trial as an example can give you a feel
for what is involved in a safety-testing-only trial. That trial was split into an A and B sections, with A being a single dose to volunteers with
close scrutiny for some time after the dose, and B was several doses up to 75mg/Kg/day for one month with the same close scrutiny.
DO NOTE FOR IDEBENONE THEY USED FAers.
They aren't with the A-0001, according to the press release. If you are interested, the Idebenone Phase IB trial description can be found here,
http://www.clinicaltrials.gov/ct2/show/NCT00078481?term=Friedreich%27s+Ataxia&rank=4

So, please don't try to volunteer for this A-0001 trial if you think you have one or more bad FA-related genes. Several of the FA
organizations have received many inquiries but have little information because they are not involved and we don't qualify anyway. :-)

These organizations did comment how they appreciated the interest and willingness of the families to so quickly contact them!
It demonstrated how closely tied in to advances in research we are.

Regards,

Paul

new trial

Hi,
I received this today, and thought I would put in onto the blog. More
hope:->

FOR IMMEDIATE RELEASE
First Human Dose Initiated of Promising New Friedreich's Ataxia Drug
Highlights Effectiveness of New Public-Private Partnership Model
July 15, 2008 – The Friedreich's Ataxia Research Alliance (FARA) joins
its
public and private partners in announcing that a phase I clinical trial
of a
promising new drug, designated A0001, began dosing on July 11th. This
milestone achievement illustrates the power of a new model for advancing
therapies,
especially in rare diseases.
"FARA believes in the essential nature of public-private partnerships
that
involve government agencies such as the National Institutes of Health
(NIH)
and the Food and Drug Administration (FDA), academic investigators, the
pharmaceutical industry, and multiple non-profits like FARA and the
Muscular
Dystrophy Association (MDA)," said FARA President Ron Bartek. "FARA is
grateful to
its partners that span the spectrum from discovery through clinical
development as we work together to advance promising compounds like
A0001 toward the
goal of approved treatments and cures for Friedreich's Ataxia (FA) and
other
neurodegenerative disorders."
A0001 is a small molecule that has the potential for treating defects in
the
mitochondrial respiratory chain like those believed to cause
significant
damage in FA and a number of other neurological and neuromuscular
disorders. In
April 2006, the FDA granted orphan drug designation status to A0001 for
treatment of inherited mitochondrial respiratory chain diseases.
The opening of this clinical trial demonstrates the power of the
public-private partnerships FARA has been fortunate to build and bring
to bear on the
quest for treatments and a cure for FA. FARA began its support of A0001
in 2005
with substantial research grants to and investment in Edison
Pharmaceuticals. The MDA, via Seek A Miracle/MDA, joined FARA in
co-funding the initial
research grant to Edison.
"We all know that drug development is expensive, but this is a
wonderful
example of how investments can be leveraged by multiple groups to get
more
therapies into the clinic," says Dr. Sharon Hesterlee, MDA VP for
Translational
Research.
Later in 2005, Dr. Robert Wilson of the University of Pennsylvania, FARA
and
Edison joined forces as co-applicants to the National Institutes of
Health
(NIH) program called RAID (Rapid Access to Intervention Development),
designed
to help move drugs from the discovery bench to the clinical trial
bedside.
The application was successful and contract services provided by NIH
RAID
played an important role in completing the preclinical preparations of
A0001 so
the molecule could be made ready for the clinical trial.
"This is a great example of how the various stakeholders joined forces
to
help transform a promising laboratory discovery into a therapeutic that
is now
in clinical trial," says Dr. Story Landis, NINDS Director. The NINDS
manages
the NIH RAID program and is also responsible for Friedreich's Ataxia
research
as part of its mission to reduce the burden of neurological disorders.
NINDS'
support for the A0001 pre-clinical project consisted of formulation, a
genotoxicity study, a dose escalation study, synthesis of radiolabeled
drug for
ADME and radioautography studies, dose ranging studies in two species, a
90
day GLP toxicity study, and safety pharmacology studies.
The phase I clinical trial just initiated by Penwest Pharmaceuticals
will be
conducted in healthy volunteers and is designed to evaluate the safety
and
tolerability of A0001 at various doses, as well as to collect
pharmacokinetic
data. In addition, the trial is designed to determine if there is a
maximum
tolerated dose of the drug. This data will be used in subsequent phases
of
clinical trials in patients with FA and other diseases that involve
mitochondrial dysfunction.
For futher information, contact FARA at (703) 426 1576 or
fara@cureFA.org.
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. _http://www.CureFA.org_
(http://rs6.net/tn.jsp?e=001DQArLW-C12A11Wn2SeP7Eoa6C_5LfbBm8R71dsUTUwdT9025__vFTV3HpqIbKxe
5Pjni7cG7HJjgpAdeMrfBgGceJYdw01kOAu71BttT6tU=)

(http://rs6.net/tn.jsp?e=001DQArLW-C12A11Wn2SeP7Eoa6C_5LfbBm8R71dsUTUwdT9025__vFTV3HpqIbKxe5Pjni7cG7HJjgpAdeMrfBgGceJYdw01kOAu71BttT6tU=)

interesting medical article

This came in this morning. It talks about a new idea regarding gene
inhibitors.

http://www.sciencedaily.com/releases/2008/07/080706194259.htm

New Targets For RNAs That Regulate Genes Identified

ScienceDaily (July 6, 2008) — Tiny strands of genetic material called
RNA -- a chemical cousin of DNA -- are emerging as major players in gene
regulation, the process inside cells that drives all biology and that
scientists seek to control in order to fight disease.

The idea that RNA (ribonucleic acid) is involved in activating and
inhibiting genes is relatively new, and it has been unclear how RNA
strands might regulate the process.

In a new study available online today and in a future issue of Nature
Structural and Molecular Biology, RNA experts at UT Southwestern Medical
Center found that, contrary to established theories, RNA can interact
with a non-gene region of DNA called a promoter region, a sequence of
DNA occurring spatially in front of an actual gene. This promoter must
be activated before a gene can be turned on.

"Our findings about the underlying mechanisms of RNA-activated gene
expression reveal a new and unexpected target for potential drug
development," said Dr. David Corey, professor of pharmacology and
biochemistry at UT Southwestern and one of the senior authors of the
study.

Genes are segments of DNA housed in the nucleus of every cell, and they
carry instructions for making proteins. Faulty or mutated genes lead to
malfunctioning, missing or overabundant proteins, and any of those
conditions can result in disease. Scientists seek to understand the
mechanisms by which genes are activated, or expressed, and turned off in
order to get a clearer picture of basic cell biology and also to develop
medical therapies that affect gene expression.

In previous studies, Dr. Corey and Dr. Bethany Janowski, assistant
professor of pharmacology at UT Southwestern and a senior author of the
current study, have shown that tiny strands of RNA can be used to
activate certain genes in cultured cancer cells. Using strands of RNA
that they manufactured in the lab, the researchers showed that the
strands regulate gene expression by somehow perturbing a delicate
mixture of proteins that surround DNA and control whether or not genes
are activated.

Until now, however, it was not clear exactly how the synthetic RNA
strands affected that mix of regulating proteins.

In the current study, also carried out in cancer cell cultures, the UT
Southwestern research team discovered an unexpected target for the
manufactured RNA. The RNA did not home in on the gene itself, but rather
on another type of RNA produced by the cell, a so-called noncoding RNA
transcript. This type of RNA is found in association with the promoter
regions that occur in front of the gene. Promoter regions, when
activated, act essentially as a "start" command for turning on genes.

The researchers found that their man-made RNA strand bound to the RNA
transcript, which then recruited certain proteins to form an RNA-protein
complex. The whole complex then bound to the promoter region, an action
that could then either activate or inhibit gene expression.

"Involvement of RNA at a gene promoter is a new concept, potentially a
big new concept," Dr. Janowski said. "Interactions at gene promoters are
critical for understanding disease, and our results bring a new
dimension to understanding how genes can be regulated."

Until recently, many scientists believed that proteins alone control
gene expression at promoters, but Drs. Corey and Janowski's results
suggest that this assumption is not necessarily true.

"By demonstrating how small RNAs can be used to recruit proteins to gene
promoters, we have provided further evidence that this phenomenon should
be in the mainstream of science," Dr. Corey said.

Although using synthetic RNA to regulate gene expression and possibly
treat disease in humans is still in the future, Dr. Corey noted that the
type of man-made RNA molecules employed by the UT Southwestern team are
already being used in human clinical trials, so progress toward the
development of gene-regulating drugs could move quickly.

Other researchers from UT Southwestern involved in the research were
lead author and student research assistant Jacob Schwartz; student
research assistant Scott Younger; and research associate Ngoc-Bich
Nguyen. Researchers from the University of Western Ontario and ISIS
Pharmaceuticals also participated.

The research was supported by the National Institutes of Health and the
Welch Foundation.

________________________________________________________________________
Adapted from materials provided by UT Southwestern Medical Center.

CPR on mobile phones

Hi everyone,

I just received this from the ABC news Email. It is reporting that the RedCross has organised that one can have CPR instructions on ones mobile phone. Worth a look.

"*Mobile phone CPR instructions 'could save lives'*

In what is being billed as a world first, instructions for life-saving CPR can now be downloaded to a mobile phone under a new initiative developed by the Red Cross.

People will be able to download animated instructions from a website onto their phone on how to revive someone in an emergency.

The technology was developed by a Tasmanian company.

Red Cross spokeswoman Virginia Leafe says the service is no substitute for first aid training, but works as a potentially life-saving prompt.

"You download it from the Red Cross website," she said.

"It will take a couple of minutes to download, and then you will have it on your phone and you press a button and with one button it starts and it goes through visually and speaking, how to do CPR.

"The idea is to download it before an emergency situation kicks in."

-------------------------

local paper story on Billy

Courageous Billy lives life to the fullest

Like most 10-year-olds Billy Hosking likes playing on his computer, having fun with his three siblings and attending Cub Scouts with his friends.
But life for the Trinity College Gawler River student changed last year when he was diagnosed with Friedreich Ataxia (FA), a rare genetic neurological disease causing progressive physical deterioration.
There is no cure for the condition, which already affects his day-to-day life considerably.
“For one, I have to use a walking stick and I use a computer a lot at school for things that are normally written,” the Gawler West youngster said.
“I’m fairly physically slow walking and I can’t do long distance walks obviously.”
But just five minutes in the company of Billy reveals a fighting spirit and refusal to accept his fate.
Mother Laurel admits to feeling both “grief and relief” when her son was finally diagnosed with FA, after suspecting he had a medical condition from the age of two.
“He’s always had bad co-ordination problems, always been very clutsy and clumsy, and by the time he was six, his legs would just give way when standing still, now that’s not normal,” she said.
“We basically had this one neurologist who closed the file and said, ‘tell me your story’…two tests later we knew.
“There was an incredible sense of grief, because there is a sense of loss of what he won’t see, of what he won’t be able to do, but at the same time there was relief that finally we had some answers.”
Upon learning Billy’s diagnosis, Laurel and husband Wes were shocked to discover a total lack of support for people with FA in South Australia.
Laurel contacted the Friedreich Ataxia Research Association (FARA) in Melbourne, and was impressed by its research into a cure.
“But FARA had never met anyone from South Australia with FA, so I came back here and had this need to do something,” she said.
“I was seeing doctors and specialists all over Adelaide and none of them knew anything.
“I’m telling them what tests they need to run, I’m telling them what needs to be done, but this is wrong, I have to be a mum first.”
Laurel has since set up a support group for people with FA, encouraging them to register with
FARA for upcoming medication trials.She has also organised a gala ball and silent auction to increase awareness of the disease and raise much needed funds for research into a cure.
“The really scary thing about FA is one in 90 people carry the gene – my husband and I didn’t know that we were carriers,” she said.
“Really the sun doesn’t set on research, all around the world it’s being done and why is it being done, because they believe they can beat it.
“We have bad days, we have what we call Friedreich’s days, but other days we just fight and we won’t give up.”
The FARA Gala Ball takes place on Saturday, August 16 at The Lakes Resort, West Lakes.
Guest speaker on the night will be Martin Delatycki, director of the Bruce Lefroy Centre for Genetic Health, with entertainment from the band Flaming Sambucas.
Tickets cost $150 each, or $1400 for a table of 10. To make a booking, call Laurel on 0420 498 963.

Physio for FA

HI,
there is an interesting article on the FAPG website. All on Physiotherapy for FA. worth a look.

http://www.fortnet.org/fapg/PTarticleFA.htm

inspiration for Logo

someone asked me once, what the inspiration for the FAinSA logo was.
Well here goes.

I decided that the symbol needed to be familiar and recognisable. Therefore the International symbol for the disabled, was a quick choice.

next I decided it needed an South Australian Symbol.. the Sturt Desert Pea was perfect.

1/ The Sturt Desert Pea is synonomous with South Australia,
2/ The " pea" was used by the "father of genetics" Mendel.
3/ The Sturt Desert Pea only flowers in the desert after rain, heralding hope.
4/ The Sturt Desert Pea has a strange graphical similarlity to the protein Frataxin....( which is so important in Friedreich Ataxia.

So there you have it.....

FARA Gala Ball SA 2008

Fara Gala Ball SA 2008
& Silent Auction

Saturday 16th August 2008
The Lakes Resort Hotel
Brebner Drive
West Lakes

7pm-12am

Speaker :- Associate Professor Martin Delatycki

Band :- Flaming Sambucas

Tickets : $150 per head of $1400 table of 10

RSVP 28th July 2008

Contacts:-
Laurel Hosking ( Ball Co-Ordinator) laurel@linvid.com
Varlli Beetham ( Executive Director FARAA) varlli@fara.org.au

Proudly supported by AMP Foundation and The Lakes Resort Hotel

FAinSA blog

Hi Everyone,

Well here it is a blog. I have created this to keep in touch with
everyone interested in FA. Watch this space for lots of information on
fundraising and links to latests research or youtube downloads. Hope
you enjoy:->