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FARAFARA Cure FA

 

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.

 


 

Visiting FARA Funded Researchers

Katie Schultz joined the FARA team, as the Patient Engagement Director, in early February (welcome, Katie!). She recently had the opportunity to visit the labs of some FARA Funded Researchers and meet members of the FA community.

VisitingResearch1

"It was exciting to meet Dr. David Corey and his colleagues and tour his lab at UT Southwestern Medical Center. We were able see firsthand the research that they are doing with patient skin cells....[and] hear about Dr. Corey’s incredible work researching ways to increase frataxin and to experience life in the lab."
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"Can you imagine a way to grow and transform the skin cells from actual FA patients into any other type of cell, like neuronal or cardiac cells, which are critical for FA research? Drs. Marek Napierala and Jill Butler and their team at The University of Alabama at Birmingham are doing just that. And where do they get those skin cells? From you via Dr. Dave Lynch’s lab at Children's Hospital of Philadelphia! The key to successfully finding a treatment/cure for FA is partnership and collaboration. Without you, there would be no skin cells, and without Dr. Napierala’s team, there would be no processed research material for Dr. Corey and other FA scientists to do their important work."

Read the full post HERE on the Ambassador Program blog!

Rare Disease Day 2017 – Friedreich ataxia: Researchers from Fratagene Therapeutics and the University of Rome “Tor Vergata” identify a new therapeutic target

A few days before the International Rare Disease Day - which is celebrated annually on the last day of February - the prestigious journal "Cell Reports" has published the work of researchers of Fratagene Therapeutics, led by Dr. Alessandra Rufini, on the identification of a significant new therapeutic target for Friedreich's ataxia (FA). The study is in collaboration with researchers from the Department of Biomedicine and Prevention, University of Rome "Tor Vergata".

FA is a rare genetic neurodegenerative disease that affects children and young adults leading them gradually to disability. It is caused by a deficiency of frataxin. Only in the United States, Canada and Europe there are over 15 000 patients with FA, especially children and young adults, for which currently there is no approved therapy.

"The discovery of a new therapeutic target for Friedreich's ataxia - explains Dr Rufini, scientific director of Fratagene Therapeutics – ligase RNF126, an enzyme whose inhibition leads to an increase in frataxin levels in the cell of patients, opens the way to the possible development of a new class of drugs that could provide a hope of cure."

FRATAGENE THERAPEUTICS: from academia to industry

Fratagene Therapeutics is a biotech company founded by prof. Roberto Testi, director of the Laboratory of Signal Transdution at the Department of Biomedicine and Prevention, University of Rome "Tor Vergata", with the aim of attracting the necessary resources to the development of a cure for FA.

"Fratagene Therapeutics is a model for value creation from research results generated within the University - said prof. Testi - and it is an important part of a long-term, innovative research program developed by the group I lead, that has been funded by Telethon, by Friedreich's Ataxia Research Alliance USA (FARA) and by two grants of the European Research Council (ERC)”.

PROJECT FAST: TWO GRANTS FROM THE EUROPEAN RESEARCH COUNCIL

The European Research Council (European Research Council) funded in 2012 the "FAST" project, Friedreich's Ataxia Seeks Therapy, led by prof. Roberto Testi, an "Advanced Grant" for the innovative and unique approach in the search for a cure for FA. Subsequently, in 2015 the ERC has awarded prof. Testi a "Proof-of-Concept Grant", aimed at possible commercial development of new therapies designed thanks to the "FAST" project. The "PoC Grant", is a type of financing that was created to help researchers bridge the gap between Academia and Industry, providing them with the resources for the ultimate validation of the idea, the protection of intellectual property and the scouting of industrial partners.

The study in Cell Reports "E3 Ligase RNF126 Directly ubiquitinates Frataxin, Promoting Its Degradation: Identification of a Potential Therapeutic Target for Friedreich Ataxia"
 

Call For Abstracts - 2nd International Ataxia Research Conference

The 2nd International Ataxia Research Conference will be held on September 27-30, 2017 in Pisa, Italy. The focus of the meeting is a comprehensive scientific review of new research from disease definition to therapeutic treatments. The conference will include Friedreich’s ataxia and other recessive ataxias (eg: ataxia with oculomotor apraxia), dominant ataxias (eg: spinocerebellar ataxias, DRPLA, episodic ataxias) and autoimmune ataxias.

Measuring Inhibition and Cognitive Flexibility in Friedreich Ataxia

Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder with subtle impact on cognition. Inhibitory processes and cognitive flexibility were examined in FRDA by assessing the ability to suppress a predictable verbal response. We administered the Hayling Sentence Completion Test (HSCT), the Trail Making Test, and the Stroop Test to 43 individuals with FRDA and 42 gender- and age-matched control participants. There were no significant group differences in performance on the Stroop or Trail Making Test whereas significant impairment in cognitive flexibility including the ability to predict and inhibit a pre-potent response as measured in the HSCT was evident in individuals with FRDA. These deficits did not correlate with clinical characteristics of FRDA (age of disease onset, disease duration, number of guanine-adenine-adenine repeats on the shorter or larger FXN allele, or Friedreich Ataxia Rating Scale score), suggesting that such impairment may not be related to the disease process in a straightforward way. The observed specific impairment of inhibition and predictive capacity in individuals with FRDA on the HSCT task, in the absence of impairment in associated executive functions, supports cerebellar dysfunction in conjunction with disturbance to cortico-thalamo-cerebellar connectivity, perhaps via inability to access frontal areas necessary for successful task completion.

Read more HERE

E3 Ligase RNF126 Directly Ubiquitinates Frataxin, Promoting Its Degradation: Identification of a Potential Therapeutic Target for Friedreich Ataxia

Friedreich ataxia (FRDA) is a severe genetic neurodegenerative disease caused by reduced expression of the mitochondrial protein frataxin. To date, there is no therapy to treat this condition. The amount of residual frataxin critically affects the severity of the disease; thus, attempts to restore physiological frataxin levels are considered therapeutically relevant. Frataxin levels are controlled by the ubiquitin-proteasome system; therefore, inhibition of the frataxin E3 ligase may represent a strategy to achieve an increase in frataxin levels. Here, we report the identification of the RING E3 ligase RNF126 as the enzyme that specifically mediates frataxin ubiquitination and targets it for degradation. RNF126 interacts with frataxin and promotes its ubiquitination in a catalytic activity-dependent manner, both in vivo and in vitro. Most importantly, RNF126 depletion results in frataxin accumulation in cells derived from FRDA patients, highlighting the relevance of RNF126 as a new therapeutic target for Friedreich ataxia.

Read more HERE

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