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Scientific News

FARA funds research progress

In this section, you will find the most recent FA research publications, many of which are funded by FARA, as well as information on upcoming conferences and symposiums. You can search for articles by date using the archive box in the right hand column. To locate FARA Funded or Supported Research, click the hyperlink in the right hand column. You may also search for specific content using key words or phrases in the search button at the top right of your screen. Please be sure to visit other key research sections of our website for information on FARA’s Grant Program and the Treatment Pipeline.



Long-term treatment with thiamine as possible medical therapy for Friedreich ataxia

Thiamine (vitamin B1) is a cofactor of fundamental enzymes of cell energetic metabolism; its deficiency causes disorders affecting both the peripheral and central nervous system. Previous studies reported low thiamine levels in cerebrospinal fluid and pyruvate dehydrogenase dysfunction in Friedreich ataxia (FRDA). We investigated the effect of long-term treatment with thiamine in FRDA, evaluating changes in neurological symptoms, echocardiographic parameters, and plasma FXN mRNA levels. Thirty-four consecutive FRDA patients have been continuously treated with intramuscular thiamine 100 mg twice a week and have been assessed with the Scale for the Assessment and Rating of Ataxia (SARA) at baseline, after 1 month, and then every 3 months during treatment.

Read the entire article HERE

Agilis Biotherapeutics Announces FDA Orphan Drug Designation for the Treatment of Friedreich’s Ataxia (FA)

Agilis announces today that the United States Food and Drug Administration (FDA) has granted Orphan Drug Designation to Agilis’ gene therapy product candidate, AGIL-FA, being developed for the treatment of Friedreich’s ataxia (FA). AGIL-FA is a gene-therapy product consisting of a unique gene construct developed in partnership with Intrexon Corporation (NYSE: XON) delivered with adeno-associated virus technology. Orphan Drug Designation is important for industry sponsors working in the rare disease space as it offers development and commercial incentives. FARA has been working closely with the Agilis team since the company launched in 2013, we look forward to continuing our partnership to advance this important potential therapy, as well as supporting research to identify biomarkers and clinical outcome measures, which will advance the development of the product candidate into clinical trials.

Read the entire Press Release HERE

Pfizer aims to become industry leader in gene therapy with acquisition of Bamboo Therapeutics, Inc.

Pfizer announces today acquisition of Bamboo Therapeutic, Inc. as a part of a growing commitment to gene therapy and rare disease, including FA. Bamboo’s portfolio includes potential best-in-class rAAV-based gene therapies in two priority areas: neuromuscular, with a pre-clinical asset for Duchenne Muscular Dystrophy (DMD); and central nervous system, with pre-clinical assets for Friedreich’s Ataxia and Canavan disease, and a Phase I asset for Giant Axonal Neuropathy.
For more information on Pfizer's interest in developing therapies for FA and rare disease visit:
Video with Pfizer Scientist Joe Nabhan, talking about his work on drug discovery for FA:

Read the Pfizer Press Release HERE

9th Annual Friedreich’s Ataxia Symposium – 2016 CHOP/FARA – Call For Abstracts

The Friedreich’s Ataxia Research Alliance (FARA) and the Children’s Hospital of Philadelphia (CHOP) would like to invite young investigators—graduate/medical students and post-doctoral fellows—to submit abstracts for the 9th Annual Friedreich’s Ataxia Symposium to be held on October 16-17, 2016 in King of Prussia, PA. The symposium will include a reception on the evening of Sunday, October 16, and talks throughout the day on Monday, October 17, 2016. Posters will be up throughout the meeting with specific poster sessions during the reception on the 16th and breakfast and lunch on the 17th. We encourage you to share this information with young investigators in your lab who would benefit from gaining greater exposure to the FA community in addition to the experience of presenting their research data.

The Symposium presents an opportunity to engage with the patient community as well as network with other investigators. We wish to give young investigators the opportunity to meet and interact with FA patient families and to recognize how their work directly impacts patients’ lives while simultaneously giving the families more opportunity to learn about ongoing research.

Please click on the links below - to download the necessary information and submission form.

Call For Abstracts (PDF)

Abstract Submission Form (Word DOC)

The Replication of Frataxin Gene Is Assured by Activation of Dormant Origins in the Presence of a GAA-Repeat Expansion

It is well known that DNA replication affects the stability of several trinucleotide repeats, but whether replication profiles of human loci carrying an expanded repeat differ from those of normal alleles is poorly understood in the endogenous context. We investigated this issue using cell lines from Friedreich's ataxia patients, homozygous for a GAA-repeat expansion in intron 1 of the Frataxin gene. By interphase, FISH we found that in comparison to the normal Frataxin sequence the replication of expanded alleles is slowed or delayed. According to molecular combing, origins never fired within the normal Frataxin allele. In contrast, in mutant alleles dormant origins are recruited within the gene, causing a switch of the prevalent fork direction through the expanded repeat. Furthermore, a global modification of the replication profile, involving origin choice and a differential distribution of unidirectional forks, was observed in the surrounding 850 kb region. These data provide a wide-view of the interplay of events occurring during replication of genes carrying an expanded repeat.

Read the entire article HERE

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