May 16, 2012    +    Latest Updates

Principal Investigator	Project Title Description	Focus Area Outcome
Mark Payne (in collaboration with Sidney Hecht)	Pilot Study: Testing Hecht Lead Compound in KO Mouse Model	Drug Discovery
Robert Wilson (in collaboration with Retrotope)	Isotropic reinforecement of PUFAs to decrease oxidative stress in Freidreich's ataxia	Drug Discovery
Marek Napierala	Novel compounds alleviating transcriptional silencing in Friedreich's Ataxia - evaluating efficacy of small molecules identified in the NIH high throughput screening campaign	HTS & Drug Discovery
James Rusche - Repligen	Preclinical Development of HDAC Inhibitors to Treat Friedreich's Ataxia	Lead Candidates
Massimo Pandolfo	Characterization of Friedreich's ataxia iPSC-derived neurons	Cell & Animal Models
2011 Kyle Bryant Translational Research Award
Joseph Sarsero	Correction of Friedreich's ataxia iPS cells by non-viral gene therapy	Gene and Stem Cell Therapy

• Abstracts to be presented at the
  American Academy of Neurology April 21-28
  · Impairment of the Vestibulo-Cerebellar Interaction in Friedreich's Ataxia
  · T2 Relaxation Time Correlates with Disease Severity in Friedreich's Ataxia
  · An Induced Pluripotent Stem Cell Model for Friedreich's Ataxia
  
  
• Retrospective study of the effects of inpatient rehabilitation on improving and maintaining functional independence in people with Friedreich ataxia - FARA Funded Research
  

Boston area families contributing to research
On April 26, Jen Farmer and Lauren Seyer from the Children's Hospital of Philadelphia went to Boston, MA for an outreach day; collecting blood and cheek swab samples from individuals with FA, carriers and controls. These samples were needed for ongoing research studies at Repligen and at the Children's Hospital of Philadelphia. Samples were collected for frataxin studies, glucose and insulin studies, mitochondrial biomarker studies, genetic modifier studies and testing drug candidates.

Thank you to everyone who came out to support these efforts and especially Maria and Ritchie Currier for coordinating a location and lots of delicious muffins and bagels; they were appreciated by all who fasted and gave blood!

March 31, 2012    +    Latest Updates

• Partnership and Collaboration take promising therapy, RG2833, from discovery to first-in-human trial in Friedreich's Ataxia (FA)
• Speaker challenges students to define themselves
• Positive Pakistani: Steel wheels
• Denton bike riders aim to beat rare disease
• North Texas Bike-A-Thon For Neuromuscular Disease

• Understanding the genetic and molecular pathogenesis of Friedreich's ataxia through animal and cellular models
  
  This article is a summary of the proceedings from the 4th International FA Scientific Conference held May 2012 in Strasbourg France. This great resource summarizes not only the current understanding of disease mechanisms but also gives a detailed overview on FA animal and cellular models.
• Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model
  
  Another interesting publication this month identifies a new compound that increases frataxin in both cell and animal models.
• Exonic Deletions of FXN and Early-Onset Friedreich Ataxia
  
  This article describes six individuals with new type of genetic mutation in the FRDA gene. While 95% of individuals with FA have a similar genetic mutation, expansion of a GAA repeat in intron 1 of the FRDA gene, about 5% of individuals have more unique and rare mutations (point mutations) in the FRDA gene. This article describes individuals in which part of the FRDA gene has been deleted; all of the individuals had a relatively early age of onset and more progressive clinical course.

February 29, 2012    +    Latest Updates

Rare Disease Day was February 29th. On February 29th and March 1st, Ron Bartek and Kyle Bryant went to Washington D.C. to represent FARA and FA Patient/Families at events held during the National Institutes of Health (NIH) fifth annual celebration of Rare Disease Day. For more insight on these events and impact on our community visit Kyle's blog.

Izzy Penston and Rare Disease Day are the topic of an article in the Alameda Patch.

FARA's Ataxian Athlete Initiative still needs your VOTE everyday in March to compete for $50,000 from Cultivate "The Give."

These stories and more posted at FARA News.

Friedreich's Ataxia; Brooke's journey from majority to minority was posted on our Video Resources page.

Five Scientific News items were posted on our Scientific News page. Two of these were FARA Funded Research!

January 31, 2012    +    Latest Updates

What makes the symptoms and progression of FA slightly different in each person even when their genetic mutation may be very similar? One contributing factor may be epigenetics (difference in our DNA that alter how genes are expressed). One featured publication this month is an editiorial in Nature Reviews Neurology that highlights the research of FARA's 2009-2010 New Investigator Awardee, Dr. Maggie Evans-Galea and colleagues recently reported their findings of specific epigenetic differences that correlated to the amount of gene expression and clinical measures of disease severity. These epigenetic differences may be useful in further understanding severity and progression of FA and may also be tools in monitoring response in specific drug studies that aim at altering gene expression.

Read more on this study and 6 other new Friedreich's ataxia scientific publications in Scientific News.

FARA's Ataxian Athlete Initiative needs your VOTE everyday in February & March to compete for $50,000 from Cultivate "The Give."

Zac Zies continues to take on new challenges and goals while raising funds for FA.

These stories and more posted at FARA News.

FARA welcomes our new Chairman, Ed Ramsey, and three new Directors to the Board - Bill Alefantis, Jennifer Good, and Bernard Ravina.

"Meet" our new Directors at FARA Leadership.