FARA is grateful to all investigators for submitting applications to the FARA grant program. All investigators interested in FA-related research are invited to submit a Letter of Intent (LOI) through our submission portal (https://webportalapp.com/sp/login/fara_grants). The deadline for the last 2021 LOI cycle for General Grants and Postdoctoral Fellowships and Awards is July 15. The LOI must explain how the proposed research addresses FARA’s grant program priorities (https://www.curefa.org/grant-priorities). As FARA’s funding resources are limited, this is a competitive, peer-review process, and the LOIs that specifically address FARA’s research priorities are more likely to be invited to submit a full application. Please see more information on how to apply for a FARA grant at https://www.curefa.org/grant-apply
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The Oxford-Harrington Rare Disease Centre initiates first disease priority area:
Friedreich’s Ataxia
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The Oxford-Harrington Rare Disease Centre (OHC) has adopted FA as a priority area within its neurological disorders theme. Ultimately, the OHC hopes to participate meaningfully in developing a therapy to treat or potentially cure FA through coordinated research efforts, leveraging the full strengths of the University of Oxford and the Harrington Discovery Institute, and externally with leading institutions across the world to focus efforts on therapeutic interventions with immediate potential. As a first step in this new journey, with the support of EndFA, a philanthropic partner focused on FA, the OHC has recruited a new Research Facilitator in Friedreich’s Ataxia, Dr Geoffrey Denwood.
Read the press release here.
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CRISPR Therapeutics and Capsida Biotherapeutics Announce Strategic Collaboration to Develop Gene-Edited Therapies for Amyotrophic Lateral Sclerosis and Friedreich’s Ataxia
CRISPR Therapeutics, a biopharmaceutical company focused on developing transformative gene-based medicines for serious diseases, and Capsida Biotherapeutics Inc., a biotechnology company dedicated to developing breakthrough gene therapies using fully integrated adeno-associated virus (AAV) engineering, cargo development and manufacturing, announced a strategic partnership to research, develop, manufacture and commercialize in vivo gene editing therapies delivered with engineered AAV vectors for the treatment of familial amyotrophic lateral sclerosis (ALS) and Friedreich’s ataxia. Under the agreement, CRISPR Therapeutics will lead research and development of the Friedreich’s ataxia program and perform gene-editing activities for both programs, and Capsida will lead research and development of the ALS program and conduct capsid engineering for both programs.
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LEXEO Therapeutics Receives Rare Pediatric Disease & Orphan Drug Designations for LX2006.
LEXEO Therapeutics, a clinical-stage gene therapy company, announced that the U.S. Food and Drug Administration (FDA) has granted Rare Pediatric Disease designation and Orphan Drug designation to LX2006 for the treatment of Friedreich’s ataxia (FA). LX2006 is an IV-administered, adeno-associated virus (AAV)-mediated gene therapy encoding the human frataxin gene. The designations granted to LX2006 cover cardiac disease and broader symptoms associated with FA.
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FARA Funded Research, June 2021 |
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Iron-sulfur cluster deficiency can be sensed by IRP2 and regulates iron homeostasis and sensitivity to ferroptosis independent of IRP1 and FBXL5.
Terzi EM, Sviderskiy VO, Alvarez SW, Whiten GC, Possemato R.
In this study, the authors show that iron-sulfur cluster (ISC) synthesis suppression can activate the iron-responsive element-binding proteins IRP2 and promote ferroptosis sensitivity via a previously unidentified mechanism. At tissue-level O2 concentrations, ISC deficiency enhances IRP2 binding to target mRNAs independent of IRP1, FBXL5, and changes in IRP2 protein level. Deletion of both IRP1 and IRP2 abolishes the iron-starvation response, preventing its activation by ISC synthesis inhibition.
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A Focus on "Bio" in Bio-Nanoscience: The Impact of Biological Factors on Nanomaterial Interactions.
Cortez-Jugo C, Czuba-Wojnilowicz E, Tan A, Caruso F.
This review discusses the impact of biological properties at the cellular, tissue, and whole organism level that influences nanomaterial behavior, including cell type, cell cycle, tumor physiology, and disease states. Understanding how the biological factors can be addressed or exploited to enhance nanomaterial accumulation and uptake can guide the design of better and suitable models to improve the outcomes of materials in nanomedicine.
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Other FA Research Publications, June 2021 |
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Mitochondrial and metabolic dysfunction in Friedreich ataxia: update on pathophysiological relevance and clinical interventions.
Lynch DR, Farmer G.
This paper reviews some of the processes downstream of frataxin deficiency that may mediate the pathophysiology. Based on cellular models, in vivo models and observations of patients, ferroptosis may play a major role in the pathogenesis of FRDA along with depletion of antioxidant reserves and abnormalities of mitochondrial biogenesis. In addition, better understanding of the mitochondrial events in FRDA may allow the development of improved imaging methodology for assessing the disorder.
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An unusual combination of large Eustachian valve in a young patient with Friedreich's ataxia cardiomyopathy.
Karvounaris SA, Papaetis GS, Mavrommatis PP.
A 20-year-old male with Friedreich ataxia (FA) presented with dyspnea and palpitations over the prior 2 days. Atrial fibrillation with rapid ventricular response and inverted T waves in leads III, aVF, V5, V6 were found on the electrocardiogram. Cardiac magnetic resonance imaging was performed and documented the presence of large Eustachian valve in the presence of cardiomyopathy.
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Friedreich ataxia in a family from Mali, West Africa/Friedreich ataxia in a Malian family.
Cissé CAK, Cissé L, Ba HO, Samassékou O, Simaga A, Taméga A, Diarra S, Diallo SH, Coulibaly T, Diallo S, Yalcouyé A, Maiga AB, Keita M, Fischbeck KH, Traoré SF, Guinto CO, Landouré G; from the H3Africa Consortium.
Friedreich ataxia is the most common inherited ataxia in the world, but yet to be reported in black African. This study reports the first genetically confirmed case in a West African family.
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The cardiomyopathy of Friedreich's ataxia common in a family: A case report.
Amini O, Lakziyan R, Abavisani M, Sarchahi Z.
In this article, the authors have reviewed a case of Friedreich's Ataxia with hypertrophic cardiomyopathy. A 19-year-old woman with Friedreich's Ataxia has been protesting since she was 11 years old and complained of chest pains, dyspnea, and heart palpitations without a medical history. In echocardiography, the left ventricle was reported as hyperimmobile with increased EF (70-75%).
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The FARA Forum is a monthly webinar featuring investigators who have been awarded FARA grants. The webinar is open to FARA grant awardees, and it is held on the second Tuesday of every month. Upcoming Dates:
July 13, 2021
12:00:00 PM ET Javier Santos, Universidad de Buenos Aires
12:45:00 PM ET Jaclyn Tamaroff, The Children's Hospital of Philadelphia
August 10, 2021
12:00:00 PM ET Sara Anjomani Virmouni, Brunel University
12:45:00 PM ET Vijay Chandran, University of Florida
September 14, 2021
12:00 PM EDT Ronald Crystal, Weill Cornell Medical College
12:45 PM EDT Shannon Boye, University of Florida
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Meetings of Interest to the FA Community |
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Neuroscience 2021, November 13-16, 2021 - McCormick Place Convention Center, Chicago.
Save the date for the inaugural International Congress for Ataxia Research (ICAR), March 15-18, 2022 - Orlando, Florida, USA.
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FARA research grants http://curefa.org/grant-types: General grants – next LOI deadline is July 15, 2021. Keith Michael Andrus Cardiac Award – next LOI deadline is January 15, 2022; See FARA grant program priorities here
CIRM - Various grant opportunities for stem cell-related projects in California.
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Post-doctoral fellow position - Napierala Laboratory, University of Alabama at Birmingham
A post-doctoral fellow position is immediately available to study mechanisms of Friedreich’s ataxia in the Napierala Laboratory, within the Department of Biochemistry and Molecular Genetics at the University of Alabama at Birmingham. We are seeking a highly motivated scientist to join our multi-disciplinary group who is interested in investigating how chromatin changes are implicated in the pathogenesis of repeat expansion diseases.
The position requires experience utilizing mammalian cell culture models, and proficiency working with induced pluripotent stem cells is desirable. Preference will be given to candidates demonstrating expertise in chromatin biology, transcriptional regulation and post-translational histone modifications, including experience performing ChIP, ChIP-seq and RNAseq experiments.
The postdoctoral fellow duties will include but are not limited to: organizing and implementing complex research plans (independently and as part of a team), developing new methods, collecting and recording data, and analyzing and critically interpreting data. The successful candidate will be expected to possess excellent communication skills and present their research findings regularly to peers within the Department and at national and international meetings. The postdoctoral fellow will also participate in preparation of grant applications and publications.
We offer competitive pay at or above NIH recommended level and relocation assistance.
To be considered for this position, please email your CV and cover letter to mnapiera@uab.edu.
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