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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.

A comprehensive Triple Repeat Primed PCR (TR-PCR) and a Long-Range PCR (LR-PCR) agarose-based assay for improved genotyping of GAA repeats in Friedreich's Ataxia

Detection and genotyping of the GAA trinucleotide repeat length is important for the diagnosis and prognosis of Friedreich's ataxia (FRDA). A two-tier genotyping assay with an improved triple-repeat primed PCR (TR-PCR) for alleles 200 GAA repeats (± 50 repeats) is described. Of the 1236 DNA samples tested using TR-PCR, 31 were identified to have expanded alleles >200 repeats and were reflexed to the LR-PCR procedure for confirmation and quantification. The TR-PCR assay described here, is a diagnostic genotyping assay which reduces the need for further testing. The LR-PCR component is a confirmatory test for true homozygous and heterozygous samples with normal and expanded alleles as indicated by the TR-PCR assay. The use of this two-tier methodology offers a comprehensive evaluation to detect and genotype the smallest and largest number of GAA repeats, improving the classification of FXN alleles as normal, mutable normal, borderline and expanded alleles.

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Genetic and Epigenetic Interplay Define Disease Onset and Severity in Repeat Diseases

Repeat diseases, such as fragile X syndrome, myotonic dystrophy, Friedreich ataxia, Huntington disease, spinocerebellar ataxias, and some forms of amyotrophic lateral sclerosis, are caused by repetitive DNA sequences that are expanded in affected individuals. The age at which an individual begins to experience symptoms, and the severity of disease, are partially determined by the size of the repeat. However, the epigenetic state of the area in and around the repeat also plays an important role in determining the age of disease onset and the rate of disease progression. Many repeat diseases share a common epigenetic pattern of increased methylation at CpG islands near the repeat region. CpG islands are CG-rich sequences that are tightly regulated by methylation and are often found at gene enhancer or insulator elements in the genome. Methylation of CpG islands can inhibit binding of the transcriptional regulator CTCF, resulting in a closed chromatin state and gene down regulation. The downregulation of these genes leads to some disease-specific symptoms. Additionally, a genetic and epigenetic interplay is suggested by an effect of methylation on repeat instability, a hallmark of large repeat expansions that leads to increasing disease severity in successive generations. This review will discuss the common epigenetic patterns shared across repeat diseases, how the genetics and epigenetics interact, and how this could be involved in disease manifestation. It also discusses the currently available stem cell and mouse models, which frequently do not recapitulate epigenetic patterns observed in human disease, and propose alternative strategies to study the role of epigenetics in repeat diseases.

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Neurological Recovery with Interferon-gamma Treatment in Friedreich's Ataxia

Various drugs are used to slow down / stop the neurodegenerative progress in Friedreich's ataxia (FA). However, recent clinical trials and animal experiments demonstrate that interferon-gamma (IFN-ɣ) treatment might improve signs of FA as well. A 9-year-old girl was admitted to our hospital with gait instability, mild dysarthria, and sensorimotor polyneuropathy. Her genetic examination was consistent with FA. IFN-ɣ treatment was started 3 times a week. The treatment was evaluated by physical examination and side effects assessment. Friedreich Ataxia Rating Scale (FARS), 9-hole peg test (9HPT), and time of 25-foot walk (T25FW) were measured. Ataxia and cerebellar findings improved within 9 months. Although clinical neurological improvement was achieved, there was no improvement in cardiomyopathy.

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ICAR - Abstract Deadline Approaching

The deadline to Submit your Abstract for the International Congress for Ataxia Research (ICAR) is less than one month away.
ICAR will be held on November 1-4, 2022, at Renaissance Dallas Addison Hotel in Dallas, Texas, USA.

Submit Your Abstract Today

Abstract Submission Deadline: June 13th, 2022 (11:59pm ET)

Abstract Acceptance Announced: August 15th, 2022

Read More Here


Reata Pharmaceuticals has announced the company's first quarter financial results and provided an update on their clinical development programs.

Updates on their FA program include:

- They completed submission of an New Drug Application (NDA) to the U.S Food and Drug Administration (FDA) for Omaveloxolone for treatment for patients with Friedreich's Ataxia in March.

Reata CEO, Warren Huff states, “. . .we are looking forward to working with the FDA on its review of our NDA throughout this year. If approved, we are preparing to be in a position to launch this important drug by early 2023.”

- This program has received Fast Track Designation, Orphan Drug Designation, and Rare Pediatric Disease Designation.

- They have secured an agreement on their Pediatric Investigation Plan with the European Medicines Agency (“EMA”) Pediatric Committee.

- They are continuing to complete the regulatory procedures and submissions required prior to filing a Marketing Authorization Application (“MAA”) in Europe for approval of omaveloxolone for the treatment of patients with Friedreich’s ataxia. They plan to submit an MAA to the EMA in the fourth quarter of 2022.

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