Here is a wonderful example of the brilliant work our Aussie Scientists
are doing....
Sunday, December 26, 2010
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
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
BabelFAmily's interview with Ron Bartek (FARA) - parts 5 and 6 of 7
Here are the latest installments of the Interview with Ron Bartek.
Thanks to BabelFAmily for organising these and putting this together.
Thanks to BabelFAmily for organising these and putting this together.
Wednesday, December 1, 2010
FARA(A) Scientific Review Meeting Update
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
Friday, November 5, 2010
Thursday, November 4, 2010
obitutuary
Aaron Kittel Aged 33
son of Sue and Joe, " left his body" on 3rd November 2010
Aaron has heroicly left his organs to research into Friedreich Ataxia
son of Sue and Joe, " left his body" on 3rd November 2010
Aaron has heroicly left his organs to research into Friedreich Ataxia
peace!
Saturday, October 30, 2010
Friday, October 22, 2010
Wednesday, October 20, 2010
Tuesday, October 19, 2010
Interview with Ron Bartek
this is an interview with Ron Bartek, president of FARA. Thanks to
Gian, from BabelFAmily for organising and posting this.
Gian, from BabelFAmily for organising and posting this.
hint... you might find it easier if you click on CC and use the
subtitles.
Friday, October 15, 2010
Epigenetic modifications and human disease
epigenetics is a very exciting field which aussie scientists are leading
the world in.... This one comes out of Spain
the world in.... This one comes out of Spain
http://www.nature.com/nbt/journal/v28/n10/abs/nbt.1685.html?lang=en
A message from President of FARA (US)
Dear friends,
Wanted you to have the news release below FARA is sending out about the
recently published U.S. Government report on rare disease research. I
am pleased to say that FARA was a key participant in the preparation of
the report and is enthusiastic about its recommendations, hoping they
will lead to accelerated progress toward treatments and a cure for FA
and other rare diseases.
Warm regards to you and your families,
Ron
Wanted you to have the news release below FARA is sending out about the
recently published U.S. Government report on rare disease research. I
am pleased to say that FARA was a key participant in the preparation of
the report and is enthusiastic about its recommendations, hoping they
will lead to accelerated progress toward treatments and a cure for FA
and other rare diseases.
Warm regards to you and your families,
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
"FARA is Key Participant in Government Report on Accelerating Rare
Disease Research
Institute of Medicine Report Calls for Integrated National Strategy
On Monday, October 04, 2010, the Institute of Medicine (IOM) released
its report titled "Rare Diseases and Orphan Products: Accelerating
Research and Development." To help in accelerating rare diseases
research and product development, the National Institutes of Health
(NIH), with support from the Food and Drug Administration (FDA), asked
the IOM to examine the opportunities for and obstacles in developing
drugs and medical devices for treating rare diseases. The IOM appointed
a committee to prepare a report on these issues and called on a few rare
disease advocacy organizations, including FARA, to provide information
and perspective from their own experiences in grappling with these
opportunities and obstacles.
The IOM Report is rich in recommendations for action FARA has long
advocated. This is especially true in regards to the recommendations to
increase FDA and NIH resources and capabilities for supporting and
accelerating clinical and preclinical development of rare disease
therapies and for using FDA and NIH grants to foster public-private
partnerships bringing together in common cause government agencies,
pharmaceutical companies, academic scientists and rare disease advocacy
organizations such as FARA.
To guide policymakers in the Administration and Congress, the IOM Report
sets forth the elements of an integrated national strategy to promote
rare diseases research and product development. Among other
recommendations, the IOM calls for NIH to work with industry, academia,
and advocacy organizations to develop a comprehensive system of shared
resources for discovery research on rare diseases and to facilitate
communication and cooperation for such research. The IOM Report also
calls for the Secretary of the Department of Health and Human Services
to establish a national task force on accelerating rare diseases
research and product development. We all know that the effort and
investment needed to move further toward a collaborative, coordinated,
open, and sustained approach to rare diseases will be substantial, but
not making the investment will also be costly. FARA fully agrees with
the IOM in saying that the potential benefits justify a renewed
commitment to accelerating rare diseases research and product
development.
FARA's Executive Director, Jen Farmer, made the FARA presentation to the
IOM committee charged with preparing the Report – the Committee on
Accelerating Rare Diseases Research and Orphan Product Development. FARA
President Ron Bartek provided brief additional comments and served as a
consultant and reviewer of the Report. The IOM Report refers to
Friedreich's ataxia a number of times, cites Jen's presentation to the
Report Committee throughout the document and discusses FARA several
times in terms of a model advocacy organization. For example, FARA is
one of only six organizations used in Appendix F to illustrate
successful approaches to rare disease research and drug development.
FARA Spokesperson & Founder of Ride Ataxia, Kyle Bryant, is featured in
a photo on the cover of the report. In other portions of the Report,
FARA is credited with exemplary activities such as our successful
participation in the NIH program to accelerate advancement of
new drug discoveries into clinical trials (the NIH Rapid Access to
Intervention Development – RAID-- that helped move A0001from Edison
Pharmaceutical's lab into the current clinical trial), and our mouse
model program with The Jackson Laboratory.
You can go to www.iom.edu/rarediseaseresearch and read a summary of the
IOM report by clicking on "Report Brief" or see the entire report by
clicking on "Read Report Online for Free." Jen's presentation to the IOM
Committee, cited several times in the report, is at
http://iom.edu/~/media/Files/Activity%
20Files/Research/OrphanProductResearch/23-NOV-09/Farmer2.pdf.
About FARA
The Friedreich's Ataxia Research Alliance's (FARA) mission is to marshal
and focus the resources and relationships needed to cure FA by raising
funds for research, promoting public awareness, and aligning scientists,
patients, clinicians, government agencies, pharmaceutical companies and
other organizations dedicated to curing FA and related diseases.
www.CureFA.org
Contact
Jennifer Farmer
Executive Director, Friedreich's Ataxia Research Alliance
(484) 875 3015
info@curefa.org
Tuesday, September 28, 2010
Monday, September 13, 2010
Thursday, August 12, 2010
Tuesday, August 10, 2010
Another Obituary
Aubrey Anna Olson was born on December 8, 1986 and charmed the world for
23 years with her beauty, grace, and dignity. Aubrey was diagnosed with
the rare neuromuscular disease Friedreich's Ataxia at the age of 8. She
showed amazing strength as she fought this disease with perseverance and
courage before joining her brother Nicholas in heaven on August 7, 2010.
Aubrey was the National Goodwill Ambassador for the Muscular Dystrophy
Association in 1998 and 1999 and inspired the world to join her in the
fight for a cure for her disease. Aubrey had a wonderful internal
beauty and cared so dearly for her friends and family. She taught us
the value of goals and determination as she worked tirelessly for her
degree in Child Psychology at the University of Minnesota, despite her
physical challenges and repeated hospitalizations. She was her
brother's keeper and her niece's mentor and role model. Aubrey enjoyed
volunteering and helping disadvantaged youth. She enjoyed swimming,
boating, sporting events, movies, and just spending time with friends
and family. Aubrey will be missed forever by her mother and father,
Cindy and Bruce Olson, sister Brittney, niece Cayli, Grandparents Joyce
and John Olson, and her many more loving relatives and treasured
friends. Aubrey was preceded in death by her brother, Nicholas, and
grandmother, Carol Rodberg. Funeral service, Wednesday, 2 PM at Our
Redeemer Lutheran Church, 825 Golf Avenue SW, Pine City, MN. Interment
Birchwood Cemetery. Visitation, Tuesday, 5-8 PM at the church and one
hour prior to service.
23 years with her beauty, grace, and dignity. Aubrey was diagnosed with
the rare neuromuscular disease Friedreich's Ataxia at the age of 8. She
showed amazing strength as she fought this disease with perseverance and
courage before joining her brother Nicholas in heaven on August 7, 2010.
Aubrey was the National Goodwill Ambassador for the Muscular Dystrophy
Association in 1998 and 1999 and inspired the world to join her in the
fight for a cure for her disease. Aubrey had a wonderful internal
beauty and cared so dearly for her friends and family. She taught us
the value of goals and determination as she worked tirelessly for her
degree in Child Psychology at the University of Minnesota, despite her
physical challenges and repeated hospitalizations. She was her
brother's keeper and her niece's mentor and role model. Aubrey enjoyed
volunteering and helping disadvantaged youth. She enjoyed swimming,
boating, sporting events, movies, and just spending time with friends
and family. Aubrey will be missed forever by her mother and father,
Cindy and Bruce Olson, sister Brittney, niece Cayli, Grandparents Joyce
and John Olson, and her many more loving relatives and treasured
friends. Aubrey was preceded in death by her brother, Nicholas, and
grandmother, Carol Rodberg. Funeral service, Wednesday, 2 PM at Our
Redeemer Lutheran Church, 825 Golf Avenue SW, Pine City, MN. Interment
Birchwood Cemetery. Visitation, Tuesday, 5-8 PM at the church and one
hour prior to service.
Thursday, August 5, 2010
Wednesday, August 4, 2010
Sunday, July 18, 2010
Wednesday, July 14, 2010
Wednesday, June 30, 2010
Saturday, June 26, 2010
Thursday, June 24, 2010
What is Gene Therapy and why is it so fascinating and promising? Report kindly prepared by Dr. Michele Lufino for BabelFAmily.
thanks to Gian at BabelFAmily, for sending this through.
Tuesday, June 15, 2010
Wednesday, June 9, 2010
Santhera's MICONOS Trial with Catena®/Sovrima® in Friedreich's Ataxia Misses Primary Endpoint
There have been some articles around about these findings.... some with
quite a negative view.... the point to remember, is that not all the
testing is done, and the cardiac side of things is still ongoing.
>From a personal viewpoint, I have never expected Idebenone to change the
ICARS or FARS scores.... for our family it was always about the cardio,
and we have personal cause to be optimistic.
http://www.santhera.com/index.php?docid=212&vid=&lang=en&newsdate=201005&newsid=1417424&newslang=en
quite a negative view.... the point to remember, is that not all the
testing is done, and the cardiac side of things is still ongoing.
>From a personal viewpoint, I have never expected Idebenone to change the
ICARS or FARS scores.... for our family it was always about the cardio,
and we have personal cause to be optimistic.
http://www.santhera.com/index.php?docid=212&vid=&lang=en&newsdate=201005&newsid=1417424&newslang=en
Wednesday, June 2, 2010
Immune system helps transplanted stem cells navigate in central nervous system
http://www.sciencedaily.com/releases/2010/06/100601162300.htm?sms_ss=email
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Tuesday, June 1, 2010
Wednesday, May 26, 2010
Wednesday, May 19, 2010
MC for 2010
Hi Everyone,
I am pleased to announce that Presenter of the Morning show on 891 ABC.
David Bevan will be our MC for this years event.
We are thrilled that David has agreed to do this, and look forward to
his special band of humour.
Reminding you all, tickets go on sale 21st June.
cheers
--
Laurel Hosking
Help FA in SA
mob: 04204 98963
ph: 08 643 01857
laurel@fainsa.org
http://www.fainsa.org
Monday, May 17, 2010
Potential Friedreich's Ataxia Drug Based on Gottesfeld Lab Work Poised to Start Clinical Trials
it is just all so exciting and hopeful.... just hope the ground does not
fall out from underneath us all:-
fall out from underneath us all:-
Saturday, May 15, 2010
Aussie research
Ocular Motor Fixation Deficits in Friedreich Ataxia.
Hocking DR, Fielding J, Corben LA, Cremer PD, Millist L, White OB,
Delatycki MB.
Hocking DR, Fielding J, Corben LA, Cremer PD, Millist L, White OB,
Delatycki MB.
Bruce Lefroy Center for Genetic Health Research, Murdoch Children's
Research Institute, Parkville, Victoria, Australia,
Darren.Hocking@med.monash.edu.au.
Friday, May 14, 2010
Tuesday, May 11, 2010
Saturday, May 1, 2010
Friday, April 30, 2010
Thursday, April 22, 2010
Sunday, April 18, 2010
hdac inhibitors and repligen
This is a report from Repligen, which discusses the progression of te
HDAC -3 . The significant part is about half way down.
http://www.cnbc.com/id/36593448
HDAC -3 . The significant part is about half way down.
http://www.cnbc.com/id/36593448
Friday, April 16, 2010
dna-transfer-prevents-mitochondrial-disease-in-humans
thanks Gian from babelFAmily for this link....
Wednesday, April 14, 2010
cardiac and FA
here is more evidence why it is important to have a cardiologist
familiar with FA
familiar with FA
http://www3.interscience.wiley.com/journal/123342199/abstract?CRETRY=1&SRETRY=0
Friday, April 9, 2010
PGC-1alpha Down-Regulation Affects the Antioxidant Response in Friedreich's Ataxia
Received this today... thanks Juan Carlos.
http://www.plosone.org/article/info:doi%2F10.1371%2Fjournal.pone.0010025
Friday, April 2, 2010
FA exposure on Catalyst
Hi everyone,
FA has had exposure on a story on Catalyst. Varlli Beetham ( Exec
Director of FARA(A) is speaking with her sister Carrie, plus Prof. Bob
Williamson and Dr Mirella Dottori. it moves onto Stem Cell research in
China, but it is always exciting to see FA exposure on the local media.
http://www.abc.net.au/catalyst/stories/2862730.htm
Cheers
Friday, March 26, 2010
Wednesday, March 24, 2010
slide shows from NAF conference
Hi everyone,
I received this link today... It is a collection of slide Shows from the
recent NAF conference in Chicago. You will notice that not every slide
show is FA specific, but there are quite a few worth looking at. ( they
are listen on the right hand colum under the title
"The 53RD Annual Membership Meeting Presentations "WINDS OF PROGRESS"
Chicago, IL - March 12-14, 2010")
Cheers everyone
http://www.ataxia.org/events/Presentations-Chicago2010.aspx
Wednesday, March 17, 2010
healthy eating twist
Hi, I had this sent today ( thanks Juan Carlos) in light of the healthy
eating policies around, this marks some potential issues for
Mitochondrial disease sufferers
eating policies around, this marks some potential issues for
Mitochondrial disease sufferers
Tuesday, March 16, 2010
Monday, March 15, 2010
Yalumba joins the party
Hi everyone,
this is just to announce that Yalumba wines will be providing the
drinking wine for this years Charity Dinner SA 2010.
Thanks to Brad for organising this for us.
Saturday, March 13, 2010
PubMed Search Results
| PubMed Results |
| 1. | FASEB J. 2010 Mar 10. [Epub ahead of print]Does oxidative stress contribute to the pathology of Friedreich's ataxia? A radical question.Armstrong JS, Khdour O, Hecht SM.Center for BioEnergetics, Biodesign Institute, Arizona State University, Tempe, Arizona, USA. Friedreich's ataxia (FRDA) is a hereditary neurodegenerative disease that frequently culminates in cardiac failure at an early age. FRDA is believed to arise from reduced synthesis of the mitochondrial iron chaperone frataxin due to impaired gene transcription, which leads to mitochondrial iron accumulation, dysfunction of mitochondrial Fe-S containing enzymes, and increased Fenton-mediated free radical production. Recent reports have challenged this generally accepted hypothesis, by suggesting that the oxidative stress component in FRDA is minimal and thereby questioning the benefit of antioxidant therapeutic strategies. We suggest that this apparent paradox results from the radically divergent chemistries of the participating reactive oxygen species (ROS), the major cellular subcompartments involved and the overall cellular responses to ROS. In this review, we consider these factors and conclude that oxidative stress does constitute a major contributing factor to FRDA pathology. This reaffirms the idea that the rational design of specific small molecule multifunctional antioxidants will benefit FRDA patients.-Armstrong, J. S., Khdour, O., Hecht, S. M. Does oxidative stress contribute to the pathology of Friedreich's ataxia? A radical question. |
| PMID: 20219987 [PubMed - as supplied by publisher] | |
Friday, March 12, 2010
Deceptive model: Stem cells of humans and mice differ more strongly than suspected
http://www.sciencedaily.com/releases/2010/03/100308095445.htm
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I saw this on Times Online and thought you might be interested
Gene therapy for spinal muscular atrophy could be tested in 2 years
http://www.timesonline.co.uk/tol/news/science/medicine/article7044533.ece
Thursday, March 11, 2010
FARA announces the 2010 Ataxian Athlete Initiative
FOR IMMEDIATE RELEASE
The Friedreich's Ataxia Research Alliance Announces the 2010 Ataxian
Athlete Initiative
March 10, 2010- Part of the mission of Ride Ataxia is to "EMPOWER
Ataxians by inspiring, motivating and providing opportunities to develop
physical and mental strength." Through the 2010 Ataxian Athlete
Initiative, Ride Ataxia will fund the purchase of adaptive cycling
equipment for aspiring Ataxian Athletes so they may start their personal
Ride Ataxia Adventure.
The Ataxian Athlete Initiative (AAI) is brought to you by Ride Ataxia, a
FARA Program. The 2010 AAI is funded by a Quality of Life grant from the
Christopher and Dana Reeve Foundation. The funding from the Reeve
Foundation will allow the AAI to provide multiple awards in 2010.
AAI is administered through a grant application process. Individuals
must have been diagnosed with some form of ataxia to qualify. The AAI is
available to Ataxians worldwide. A complete application must be
submitted by July 1, 2010 to be considered for an AAI grant award.
As part of the application individuals will select the most appropriate
adaptive cycling equipment to suit their abilities and aspirations. In
addition, applicants are asked to submit both general and financial
information as well as an essay summarizing their experience with Ataxia
and their fitness goals.
All applications will go through a formal review and selection process.
The applications will be reviewed by a panel of Disabled Athletes,
Ataxians, and other representatives of the ataxia community. To find out
more and for application instructions go to: Ataxian Athlete Initiative
2010.
About Ride Ataxia
The mission of Ride Ataxia is to Educate the public about ataxia by
drawing attention through acts of physical endurance, Enable the
advancement of ataxia research through collaborative financial support,
and Empower Ataxians by inspiring, motivating, and providing
opportunities to develop physical and mental strength.
There will be four Ride Ataxia events in 2010- Tampa Bay, FL, April 13;
Northern California- Folsom, CA, May 15-16; Philadelphia, PA October
TBD; Southern California- Los Angeles, CA, December 4-5.
www.rideataxia.org .
About Friedreich's Ataxia Research Alliance (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
Kyle Bryant
Founder, Ride Ataxia- a FARA program
(916) 203-3238
kyle@rideataxia.org
Monday, March 1, 2010
Article in Neurology Magazine
thanks to Susie Esqueda for sharing this article/
Neurology Now:
January/February 2010 - Volume 6 - Issue 1 - p 12–13
doi: 10.1097/01.NNN.0000368484.78547.a7
Departments: The Waiting Room
This Way In: Friedreich's Ataxia
Stump, Elizabeth
There is promising news on the horizon for people with Friedreich's
ataxia, a neurological disease that causes progressive muscle weakness,
difficulty walking, slurred speech, and heart problems. The discovery of
the mechanism for a potential drug treatment was reported in the
September 25, 2009 issue of the medical journal Chemistry & Biology.
A team of researchers led by Joel Gottesfeld, Ph.D., professor of
molecular biology at the Scripps Research Institute in LaJolla, CA,
discovered the specific enzyme target of a compound called 4b that stops
the progression of the disease in mice. Dr. Gottesfeld's team discovered
the compound three years ago but didn't know how it worked. Now, having
identified the particular enzyme that 4b blocks, they are developing
targets for treatment.
The term "ataxia" can refer to problems with movement and coordination
that occur with several different neurological conditions. The term also
indicates a group of degenerative and progressive diseases of the
nervous system that occur sporadically or—as in the case of Friedreich's
ataxia—through genetics.
Friedreich's ataxia affects 1 in every 20,000 to 50,000 people in the
United States. Men and women are equally affected. The cause of
Friedrich's ataxia is a defect in a gene, located on chromosome 9, that
reduces the amount of a protein called frataxin in patients. Frataxin is
found in the energy-producing parts of the cell. Without a normal level
of frataxin, certain cells in the body cannot effectively produce energy
or rid themselves of toxins, resulting in degeneration. For example, the
spinal cord becomes thinner, and nerve cells that control limb movement
lose some of their myelin sheath (the covering on all nerve cells that
helps conduct nerve impulses).
Researchers believe the genetic defect attracts a group of enzymes known
as histone deacetylases, which inactivate expression of the frataxin
gene. In 2006, Dr. Gottesfeld's team reported that 4b blocked activity
of these enzymes, jumpstarting frataxin production in white blood cells
taken from Friedreich's patients. Later work showed that a close
derivative of 4b increased frataxin production in a mouse model for
Friedreich's ataxia. The most recent work has identified the specific
histone deacetylase enzyme that is blocked by 4b.
The degeneration of nerve tissue in Friedreich's ataxia leads to muscle
weakness and wasting in the hands, feet, and lower legs, which is why
patients are often confined to a wheelchair within 10 to 20 years of the
appearance of symptoms. Typically, symptoms begin in patients ages 5 to
15. Difficulty with walking is usually the first symptom to appear. As
the disease progresses, patients may experience a gradual loss of
sensation in the extremities; rapid, involuntary eye movements; slow,
slurred speech; spinal curvature (scoliosis); and heart disease and
heart failure.
The rate of progression and the life expectancy varies from person to
person. Most people with Friedreich's ataxia die in early adulthood if
they have significant heart disease (the most common cause of death in
these patients). Some people with less severe symptoms of Friedreich's
ataxia live into their sixties or seventies.
In order to diagnose Friedreich's ataxia, neurologists perform a careful
clinical examination. They may also perform tests such as an
electromyogram (EMG), which measures the electrical activity of muscle
cells; electrocardiogram (EKG), which shows the beat pattern of the
heart; magnetic resonance imaging (MRI) or computed tomography (CT)
scan, which show a picture of the brain and spinal cord; a spinal tap to
examine the cerebrospinal fluid; nerve conduction studies, which measure
the speed with which nerves transmit impulses; blood and urine tests to
look for high glucose levels; and genetic testing to identify the
affected gene.
Adaptive devices (such as canes or walkers), therapies (such as speech
therapy to improve speech and aid swallowing), and medications for
accompanying complications (like heart problems) can assist patients.
Although there is no effective treatment or cure for Friedreich's
ataxia, researchers are hard at work.
"Idebenone has shown some efficacy in preventing or reversing the
associated heart disease, but even idebenone has failed to reverse or
slow progression of the neurological symptoms," Dr. Gottesfeld says.
"Our compounds—called histone deacetylase inhibitors—target the loss of
frataxin protein, which is the cause of the disease. They do this by
reactivating the gene that is silenced in Friedreich's ataxia."
Dr. Gottesfeld will continue to study how the enzyme blocked by 4b
controls frataxin production and its relationship to inactivating the
frataxin gene. Repligen Corporation, which was involved in Dr.
Gottesfeld's study, is doing all of the pre-clinical testing necessary
to initiate a human safety trial.
"Erythropoetin has also been found to increase the levels of frataxin
protein, and this drug is in clinical trials," Dr. Gottesfeld adds.
Genetic testing assists with prenatal diagnosis, clinical diagnosis, and
carrier status determination. Psychological counseling and support
groups may also help patients and their families cope.
Back to Top | Article Outline
Ataxia Resources
▸ Friedreich's Ataxia Research Alliance (FARA) 703-426-1576, CureFA.org
▸ Genetic Alliance 202-966-5557 or 800-336-GENE (4363)
geneticalliance.org
▸ Muscular Dystrophy Association 520-529-2000 or 800-344-4863, mda.org
▸ National Ataxia Foundation 763-553-0020, ataxia.org
▸ National Organization for Rare Disorders (NORD) 203-744-0100 or
800-999-NORD (6673), rarediseases.org
▸ National Society of Genetic Counselors 312-321-6834, nsgc.org
Elizabeth Stump
Saturday, February 27, 2010
FDA Expands Commitment to Patients with Rare Diseases
http://www.fda.gov/Drugs/NewsEvents/ucm201994.htm
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Drug delivery breakthrough targets organelles
http://www.nanowerk.com/news/newsid=15042.php
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Friday, February 26, 2010
Another loss
It is with sadness that I report the passing of Gustav Viktor Angantyr
04/11/1994 - 02/25/2010 in Sweden. Gustav went into Hospital for
Scoliosis Surgery, and suffered heart complications. Our Warmest
thoughts and wishes extend to his family and the rest of the world wide
FA community.
04/11/1994 - 02/25/2010 in Sweden. Gustav went into Hospital for
Scoliosis Surgery, and suffered heart complications. Our Warmest
thoughts and wishes extend to his family and the rest of the world wide
FA community.
Tuesday, February 23, 2010
social worker/project officer
http://mycareer.com.au/consumer/find/job/view.aspx?s_rid=recommendation-jobs&s=705&jobid=7371600
Social Worker/ Project Officer
Murdoch Childrens Research Institute, located at the Royal Children's
Hospital is Australia's largest child health research Institute. Our
team of 1,000 researchers is driven by the excitement of discovery and
the ambition to make a real difference to the health and well being of
children. Our world class laboratory, clinical and public health
research helps to prevent and treat conditions including allergies,
asthma, brain injury, cancer, cerebral palsy, depression, genetic
conditions, obesity, premature birth and infectious diseases.
Part-time (2 days per month)
* Flexible working hours
* Part of dynamic, multi-disciplinary team
*
The Friedreich Ataxia Clinic is a vibrant, unique multidisciplinary
clinic that provides medical and allied health ambulatory care
intervention to approximately 130 national and international children
and adults with Friedreich ataxia annually.
The successful applicant to this position will provide social work
services to the children and adults who attend the clinic. This position
is for two days per month. A proportion of these clinical hours will
comprise attendance at the Freidreich Ataxia Clinic at Monash Medical
Centre on the fourth Tuesday of the month and the remainder will involve
follow up that may be completed at a home office if desired.
Undertaking home visits to clients may be required on occasions.
A competitive remuneration package will be offered to the successful
applicants who will also be able to access the Institute's generous
salary packaging arrangements.
Applications for this Social Worker/ Project Officer position, Reference
Number MC2175 close Friday 5th March 2010.
Friday, February 19, 2010
Tuesday, February 16, 2010
Students Help FA
Hi everyone,
just letting you all know that Trinity College Gawler River School,
has, through their House - Dawkins, named Help FA in SA as their charity
for 2010!. This means that the House will spend the year, promoting and
helping and raising funds for FA!..
Way to go, Dawkins House!
Monday, February 15, 2010
Small Charity gets Big Boost
Monday 15th February.
http://fainsa.blogspot.com
http://fainsa.blogspot.com
Help FA in SA ( Help Friedreich Ataxia in South Australia) is delighted
to announce, AMP Foundation will once again be supporting the FA Charity
Dinner 2010.
"This means so much to us" said Laurel Hosking ( founder of Help FA in
SA). " This means we can truly make a difference in the dollars we can
give to research.... each cent gets us closer to a cure"
Friedreich Ataxia is a genetic neuro-degenerative condition that affects
about 1:30,000 people. This disease gradually robs the sufferer of
control of their legs, arms, hands, speech, swallowing, strength, and
heart function. 1 in 90 carry this devastating gene and do not know
it. Laurel and Wes Hosking, found out the hard way, they were carriers,
when their son Billy was diagnosed at age 9... Following his diagnosis,
Laurel, with the support of Wes and their four young children, started
Help FA in SA.
"I wanted to raise awareness of FA in South Australia, I hope to
connect as many FAers in South Australia as possible, and give them
information on clinics, and drug trials and research, but above all I
hope to eventually educate doctors enough that other parents do not have
to spend years searching for a diagnosis!"
All money raised goes to the Primary research body in Australia- The
Friedreich Ataxia Research Association ( Australasia) ..FARA(A).
http://www.fara.org.au
FARA and Help FA in SA is run by volunteers, and can proudly boast that
100% of money raised goes into research and actually helps finds a cure.
The Charity Dinner will be held on Saturday 14th August 2010, at the
Lakes Resort Hotel, Brebner Drive, West Lakes. Live Band :- Flaming
Sambuccas and silent auction.
Further information on the FA Charity Dinner SA 2010, or on Help FA in
SA, go to http://www.fainsa.org
--
Laurel Hosking
Help FA in SA
mob: 04204 98963
ph: 08 643 01857
laurel@fainsa.org
http://www.fainsa.org
Saturday, February 13, 2010
FA Article via FARA
Hi Everyone.
More news from FARA.
" This article just came out in Neurology Now, a publication of the
American Academy of Neurologists. This publication is sent to
neurologists offices around the country (USA) and distributed in waiting
rooms and offices. The article focuses on one approach to therapy that
FARA has been supporting, HDAC inhibition. The article is not
comprehensive, it does not review all of the potential therapies,
however it does recognize the promise and progress of FA research,
specifically HDAC inhibitors, and highlights the work of Dr. Joel
Gottesfeld, a FARA funded researcher. "
Thursday, February 11, 2010
New Hope
Hi everyone, the following was published in The Age newspaper on
February 11th 2010. There is also video grab on this subject.
February 11th 2010. There is also video grab on this subject.
http://www.abc.net.au/catalyst/stories/2608076.htm
to read this article in context, go to
http://www.theage.com.au/national/new-hope-in-hunt-for-ataxia-cure-20100210-nsgm.html
MELBOURNE scientists have made a breakthrough in the hunt for a cure for
Friedreich's ataxia, a genetic disease with no known treatment that
causes slow nerve degeneration and early death.
Teams from the University of Melbourne and the Monash Institute of
Medical Research have made pluripotent stem cells from the skin of FA
sufferers, which could provide a shortcut to a drug-based cure or even
be used directly as a treatment.
The work has been hailed as being at the forefront of worldwide research
into a disease that affects hundreds of Australians.
Friedreich's ataxia shows up in teenage years, as the faulty gene causes
low levels of a protein vital for delivering iron to nerve and heart
cells. Sufferers gradually lose their balance and co-ordination, develop
heart problems and often diabetes.
Melbourne University's Mirella Dottori said the key to the new approach
were Monash's ''induced pluripotent'' stem cells, which had been
manufactured from the skin of the FA patients.
Dr Paul Verma, MIMR's stem cell research program leader, created
Australia's first iPS cells early last year.
Dr Dottori and her colleague Dr Alice Pebay have ''pushed'' these cells
to turn into nerve and heart cells, which can be studied to better
understand the disease.
They can also be used to test existing drugs to see if they reverse the
effect of the faulty gene. And they may even be used in ''regenerative
therapy'', by correcting the faulty gene then re-implanting the cells in
an FA patient.
''It is very exciting - new doors are opened,'' Dr Dottori said.
The research was welcomed by Carrie Beetham, 32, of Hawthorn, who found
she had FA in her teens.
''I knew I would be in a wheelchair at some stage but I didn't know it
was going to move so fast. It is about keeping yourself strong and
keeping your mind strong. The main part is trying to be positive, trying
to enjoy the life that we can enjoy, trying to remain hopeful.''
Friday, February 5, 2010
Repligen and HDAC-3
This is potentially very very exciting
This came from Pam of FAPG
I listened to Repligen's 3rd quarter financial report this morning and
transcribed what they said about the HDAC inhibitors. Here is what was
said:
"We are also developing inhibitors of HDAC-3 for the treatment of
Friedreich's Ataxia. We have completed the evaluation of one of our
lead compounds in a 2 species toxicology study which is required by the
FDA prior to the initiation of clinical trials. Manufacturing of
clinical drug supply is in progress and we expect to file an IND to
initiate Phase I clinical trials by mid-2010. These studies are being
partially supported by the MDA which provided us with a second research
grant in December. Our clinical goal is to cross over from normal
volunteer studies to Friedreich's patients as soon as possible to enable
us to get an early read on the potential efficacy of our drug by
monitoring changes in the blood levels of frataxin, the protein missing
in Friedreich's patients. Recent data suggests that this biomarker is
expressed at a consistent level in patients which will facilitate the
observation of a potential increase in frataxin levels following drug
treatment. We believe that there are 15,000 Friedreich's Ataxia
patients worldwide which represents a market opportunity of more than
$300,000,000 even with very modest pricing assumptions."
This is very exciting news!
Pam
This came from Pam of FAPG
I listened to Repligen's 3rd quarter financial report this morning and
transcribed what they said about the HDAC inhibitors. Here is what was
said:
"We are also developing inhibitors of HDAC-3 for the treatment of
Friedreich's Ataxia. We have completed the evaluation of one of our
lead compounds in a 2 species toxicology study which is required by the
FDA prior to the initiation of clinical trials. Manufacturing of
clinical drug supply is in progress and we expect to file an IND to
initiate Phase I clinical trials by mid-2010. These studies are being
partially supported by the MDA which provided us with a second research
grant in December. Our clinical goal is to cross over from normal
volunteer studies to Friedreich's patients as soon as possible to enable
us to get an early read on the potential efficacy of our drug by
monitoring changes in the blood levels of frataxin, the protein missing
in Friedreich's patients. Recent data suggests that this biomarker is
expressed at a consistent level in patients which will facilitate the
observation of a potential increase in frataxin levels following drug
treatment. We believe that there are 15,000 Friedreich's Ataxia
patients worldwide which represents a market opportunity of more than
$300,000,000 even with very modest pricing assumptions."
This is very exciting news!
Pam
Team FARA
An message from FARA
Team FARA Races Across America to Raise Awareness for Friedreich's
ataxia
February 4, 2010- The Friedreich's Ataxia Research Alliance is fielding
a team of four cyclists in the "world's toughest bicycle race" - Race
Across America (RAAM). Beginning on June 12, 2010 in Oceanside, CA, Team
FARA will ride in a relay format until reaching the finish in Annapolis,
Maryland approximately 9 days later. Over 215 RAAM competitors will
travel a 3,000+ mile route with 100,000 vertical feet of climbing at an
average minimum speed of 14 mph.
Team FARA in RAAM consists of 4 members- FARA's Spokesperson and Ride
Ataxia Program Director- Kyle Bryant as well as Ride Ataxia cyclists-
Sean Baumstark, John Lockwood and Mike Mellott. Bryant states,
"Sometimes it takes a crazy idea to get noticed. Our Team is excited to
use our RAAM journey as a vehicle to draw attention to the rare disease
which affects both me and Sean and so many others. We also hope that it
encourages all people- with and without physical limitations to maintain
a healthy and active lifestyle and challenge their preconceived notions
of what is possible."
Team FARA's strategy for crossing the country in under 9 days is to
create 2 man sub-teams that ride for 8 hour shifts, alternating 30
minutes each on the road. This will allow the team to have at least one
rider on the move 24 hours a day. This endeavor will require a great
deal of planning and coordination from the team's 8 person support crew
as well as the assistance of the FA community.
Team FARA in RAAM needs your help. YOU can support the team with:
Sponsorships
* Volunteering
* In Kind Donations
* Local Media Outreach
* Support Along the Route
*
To find out more about the team, the route they will travel, and how you
can help please visit http://teamfara.blogspot.com
About RAAM
RAAM is currently the most recognized, longest endurance cycling event
in the world, and garners worldwide respect for the sheer magnitude of
its fitness challenge. www.raceacrossamerica.org
About Ride Ataxia
The mission of Ride Ataxia is to Educate the public about ataxia by
drawing attention through acts of physical endurance, Enable the
advancement of ataxia research through collaborative financial support,
and Empower ataxians by inspiring, motivating, and providing
opportunities to develop physical and mental strength.
There will be four Ride Ataxia events in 2010- Tampa Bay, FL, April 13;
Northern California- Folsom, CA, May 15-16; Philadelphia, PA October
TBD; Southern California- Los Angeles, CA, December 3-4.
www.rideataxia.org
About FARA
The Friedreich's Ataxia Research Alliance's (FARA) mission is to marshal
and focus the resources and relationships needed to cure FA by raising
funds for research, promoting public awareness, and aligning scientists,
patients, clinicians, government agencies, pharmaceutical companies and
other organizations dedicated to curing FA and related diseases.
www.CureFA.org
Contact
Jennifer Farmer
Executive Director, Friedreich's Ataxia Research Alliance
(484) 875 3015
info@curefa.org
Tuesday, February 2, 2010
Go The TAN
HI everyone,
just a quick reminder about Go The Tan, on the 12th and 13th
February.... Walk, Run, Crawl, Ride your way around this picturesque
Running track in the beautiful City of Melbourne. All Money raised
helps to find a cure for FA.... so take a moment out of your day, and
get some fresh air, and make a difference!
http://www.starttofinish.com.au/default.aspx?s=eventdisplay&id=1102
--
Laurel Hosking
Help FA in SA
mob: 04204 98963
ph: 08 643 01857
laurel@fainsa.org
http://www.fainsa.org
New FARA Logo (US)
Hi everyone
here is some news from FARA (US)
Introducing the new FARA logo
Dear FARA community, the FARA Staff and Board is pleased to announce the
introduction of an updated FARA logo. This mark replaces the previous
logo for all FARA printed and web materials. It is our hope that you
find this new mark to be distinctive, inclusive and identifiable.
Why a new logo?
Over the past year, FARA received feedback that our logo needed to be
updated. We were fortunate to have access to the advice of advertising,
marketing, graphic design and fundraising professionals. After getting
to know FARA , they all recommended an update to the logo, in order to
more accurately convey the culture and mission of our organization. This
became even more necessary as FARA is working with a growing number of
academic, pharmaceutical, government and advocacy organizations, and
expanding our corporate partnerships. Also, many of our fundraising
efforts have their own logo or symbol and we wanted a mark that
supported this but also clearly identified our organization.
The Process
Members of the FARA Board and Communications committee formed a team to
assess the current logo's attributes and to develop the goals for the
new logo which follow:
Present an image of a sophisticated, capable, international
research organization
* Create a clean and professional image that is easy to recognize
and reproduce
* Make the full logo readable at all sizes
* Retain some elements of the original FARA identity
* The logo should be easily compatible with other event logos
*
One aspect that you may notice is that there is no additional graphic
symbol or mark such as the children in our previous logo. While we all
miss the children and the powerful story they represent, the decision
was made to go with a simpler logo so that the FARA logo would be easily
compatible with the dozens of event logos used around the country.
The Roll-Out
As you will note, the FARA logo is already starting to appear. FARA will
gradually be changing out all communications materials. Out of respect
for our environment and hard-earned funds, we will not be throwing away
any printed materials!
All fundraisers, event coordinators and partners will receive a resource
kit for use of the logo. It will contain the new logos in electronic
formats for use in printing professionally and at home in color and
black and white.
If you have any questions, please do not hesitate to contact us. This
project was intended to enhance all of our communications efforts.
Thanks in advance for your assistance!
About FARA
The Friedreich's Ataxia Research Alliance's (FARA) mission is to marshal
and focus the resources and relationships needed to cure FA by raising
funds for research, promoting public awareness, and aligning scientists,
patients, clinicians, government agencies, pharmaceutical companies and
other organizations dedicated to curing FA and related diseases.
www.CureFA.org
Contact
Jennifer Farmer
Executive Director, Friedreich's Ataxia Research Alliance
(484) 875 3015
info@curefa.org
Thursday, January 28, 2010
New Web Page
Help FA in SA ( Help Friedreich Ataxia in South Australia) is delighted
to announce the launch of Help FA in SA webpage.
http://www.fainsa.org
to announce the launch of Help FA in SA webpage.
http://www.fainsa.org
The site is aimed at those interested in Friedreich Ataxia, or looking
for further resources, for information regarding current scientific
research, or those looking for an interesting event which helps to find
a cure for this crippling disease.
Help FA in SA was started by Laurel and Wes Hosking, whose 9 year old
son was diagnosed with Friedreich Ataxia in 2007. Laurel and Wes
stuggled for years to get answers to their sons poor co-ordination and
clumsiness, only to be told " he is just one of those kids". It was
only through their persistence and stubbornness that they finally got
the answer.
Help FA in SA primary focus is to raise awareness of FA in South
Australia, and to raise funds for FARA(A)- Friedreich Ataxia Research
Association (Australasia). FARA(A) is a Registered Charity, which can
boast 100% of funds raised actually goes into research to find a cure.
FARA(A) can also boast the instigation for the first clinic world wide,
solely dedicated to FA. The clinic is so successful, they are now
looking to expand and open another.
Since forming Help FA in SA, Laurel and Wes, through the generous help
and support of friends, have raised over $35000. Every penny going to
exciting and promising research.
Why is science working around the world to find a cure? Because they
believe they can a " win " this one.!
For further information, please contact
Laurel Hosking
laurel@fainsa.org
A toast!.. here is to finding the cure in 2010!
--
Laurel Hosking
Help FA in SA
mob: 04204 98963
ph: 08 64301857
fax: 08 85221313
laurel@fainsa.org
Sunday, January 24, 2010
Sad news from FARA
The following is a message from FARA
Dear Friends,
We, at the Friedreich's Ataxia Research Alliance (FARA), are deeply
saddened to inform you of the passing of Keith Andrus on January 22,
2010. Keith was the beloved son of FARA President Ron Bartek and his
wife Raychel. Keith's diagnosis of Friedreich's ataxia inspired Raychel
and Ron to pick up that torch, joining him in his fight, and found FARA.
Even during the final and very challenging months of Keith's life he
courageously continued to not only advocate for himself but for others
with FA as he left no stone unturned exploring advanced and experimental
treatment options. Keith also made the decision to make the ultimate
contribution to research at the end of his life with the donation of his
tissues so that research will continue. Because of Keith many thousands
have hope for a treatment for FA. Thank you, Keith.
We often quote Ron as saying, "Acting alone there is little any of us
can accomplish whereas acting together there is little we will not
accomplish." These words are deeply rooted in the FARA culture- the way
we pursue treatments and a cure for FA, and today they also serve as a
source of comfort in this time of great sadness. While our hearts break
for the Andrus/ Bartek Family, we feel the collective strength of our
greater FA family. You stand beside us in our work every day. You hold
us up. You push us forward. In this time of grief, you are present and
our commitment to and sense of urgency for the FARA mission does not
waiver.
If you wish to extend personal condolences to the Barteks, you can do so
by mail at: 4505 Wakefield Drive, Annandale, VA 22003 A memorial service
will be held on Saturday January 30, 2010 at 11am at St. Matthew's
Methodist Church, 8617 Little River Turnpike; Annandale, VA 22003-3604.
At Keith's request, FARA has established a memorial fund, designated to
cardiac research in FA, for contributions made in Keith's memory.
We are grateful to Ron, Raychel and Keith for making their journey with
FA into a greater alliance of families and for the FA research progress
born out of that alliance.
Sincerely,
The FARA Board of Directors & Staff
About FARA
The Friedreich's Ataxia Research Alliance's (FARA) mission is to marshal
and focus the resources and relationships needed to cure FA by raising
funds for research, promoting public awareness, and aligning scientists,
patients, clinicians, government agencies, pharmaceutical companies and
other organizations dedicated to curing FA and related diseases.
www.CureFA.org
Contact
Jennifer Farmer
Executive Director, Friedreich's Ataxia Research Alliance
(484) 875 3015
info@curefa.org
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