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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.

Therapeutic Potential of Stem Cells for Treatment of Neurodegenerative Diseases

The regenerative potential of stem cells drew the attention of researchers to cell-based therapy for treating neurodegenerative diseases. The clinical application of stem cells may help to substitute new cells and overcome the inability of the endogenous repairing system to repair the damaged brain. However, the clinical application of induced pluripotent stem cells is restricted due to the risk of tumor formation by residual undifferentiated cells upon transplantation. In this focused review, the authors briefly discussed different stem cells currently being studied for therapeutic development. Moreover, they present supporting evidence for the utilization of stem cell therapy for the treatment of neurodegenerative diseases. Also, the authors described the key issues that should be considered to transplantation of stem cells for different neurodegenerative diseases. In conclusion, the authors suggest that stem cell therapy probably would be the only treatment strategy that offers a cure for neurodegenerative disease, although further studies are required to identify ideal stem cells candidates, dosing and the ideal method of cell transplantation. The authors suggest that all grafted cells would be transgenically armed with a molecular kill-switch that could be activated in the event of adverse side effects.

Read the entire article HERE

ExpansionHunter Denovo: A Computational Method for Locating Known and Novel Repeat Expansions in Short-Read Sequencing Data

Repeat expansions are responsible for over 40 monogenic disorders, and undoubtedly more pathogenic repeat expansions remain to be discovered. Existing methods for detecting repeat expansions in short-read sequencing data require predefined repeat catalogs. Recent discoveries emphasize the need for methods that do not require pre-specified candidate repeats. To address this need, we introduce ExpansionHunter Denovo, an efficient catalog-free method for genome-wide repeat expansion detection. Analysis of real and simulated data shows that this method can identify large expansions of 41 out of 44 pathogenic repeats, including nine recently reported non-reference repeat expansions not discoverable via existing methods.

Read the entire article HERE

Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration

Oxidative stress is an imbalance between production and accumulation of oxygen reactive species and/or reactive nitrogen species in cells and tissues, and the capacity of detoxifying these products, using enzymatic and non-enzymatic components, such as glutathione. Oxidative stress plays roles in several pathological processes in the nervous system, such as neurotoxicity, neuroinflammation, ischemic stroke, and neurodegeneration. The present review aims to expand knowledge in the pathological processes associated with oxidative stress underlying some groups of rare diseases: Friedreich's ataxia, diseases with neurodegeneration with brain iron accumulation, Charcot-Marie-Tooth as an example of rare neuromuscular disorders, inherited retinal dystrophies, progressive myoclonus epilepsies, and pediatric drug-resistant epilepsies. Despite the discrimination between cause and effect may not be easy on many occasions, all these conditions are Mendelian rare diseases that share oxidative stress as a common factor, and this may represent a potential target for therapies.

Read the entire article HERE

Outlining the Complex Pathway of Mammalian Fe-S Cluster Biogenesis

Iron-sulfur (Fe-S) clusters (ISCs) are ubiquitous cofactors essential to numerous fundamental cellular processes. Assembly of ISCs and their insertion into apoproteins involves the function of complex cellular machineries that operate in parallel in the mitochondrial and cytosolic/nuclear compartments of mammalian cells. The spectrum of diseases caused by inherited defects in genes that encode the Fe-S assembly proteins has recently expanded to include multiple rare human diseases, which manifest distinctive combinations and severities of global and tissue-specific impairments. In this review, the authors provide an overview of our understanding of ISC biogenesis in mammalian cells, discuss recent work that has shed light on the molecular interactions that govern ISC assembly, and focus on human diseases caused by failures of the biogenesis pathway.

Read the entire article HERE

Progress Towards Drug Discovery for Friedreich's Ataxia: Identifying Synthetic Oligonucleotides That More Potently Activate Expression of Human Frataxin Protein

The authors have previously demonstrated that synthetic antisense oligonucleotides or duplex RNAs that are complementary to the expanded AAG repeat can activate expression of FXN and return levels of FXN protein to near normal. The potency of these compounds, however, was too low to encourage vigorous pre-clinical development. The authors now report testing of "gapmer" oligonucleotides consisting of a central DNA portion flanked by chemically modified RNA that increases binding affinity. This study finds that gapmer antisense oligonucleotides are several fold more potent activators of FXN expression relative to previously tested compounds. The potency of FXN activation is similar to a potent benchmark gapmer targeting the nuclear noncoding RNA MALAT-1, suggesting that this approach has potential for developing more effective compounds to regulate FXN expression in vivo.

Read the entire article HERE

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