2021 FARA Flash Talks - Call for abstracts
To celebrate FA awareness month and after a successful launch last year, FARA is hosting the second series of the FARA Flash Talks during the month of May. These webinars will feature graduate students and postdocs involved in FA research, presenting their work to both the patient and research community. This will be a chance for FA patients to learn about FARA funded research and get to know and interact with our junior investigators. The primary audience for these flash talks is the FA patient and caregiver community, so presentations should be understandable for a lay audience. Researchers are also welcome to attend the talks.

To participate, please submit a short abstract by filling out this form by April 12, 2021.

Speakers will be notified by April 21 and a full schedule will be available on April 25. The first webinar is scheduled for May 3, 2021.

The 3 most outstanding presentations will be recognized with an award.
FARA Funded Research, February 2021
Safety and feasibility of upper limb cardiopulmonary exercise test
in Friedreich ataxia
Pane C, Salzano A, Trinchillo A, Del Prete C, Casali C, Marcotulli C, Defazio
G, Guardasole V, Vastarella R, Giallauria F, Puorro G, Marsili A, De Michele
G, Filla A, Cittadini A, Saccà F.

This study aims to explore the feasibility of upper limbs cardiopulmonary exercise test in 55 FA patients and to compare the results with 54 healthy controls (HC). Cardiopulmonary exercise test was performed using an upper limbs cycle ergometer on fasting subjects. Peak oxygen uptake (peak VO2) showed a significant 31% reduction in FA patients compared to HC and peak workload was reduced by 41%. In FA patients, peak VO2 is inversely correlated with the Scale for Assessment and Rating of Ataxia score, disease duration, and 9HPT performance, and directly correlated with activities of daily living. The ventilatory anaerobic threshold occurred at 48% of peak workload time in FA patients and at 85% in HC.
Other FA Research Publications, February 2021
Defective palmitoylation of transferrin receptor triggers iron overload in Friedreich's ataxia fibroblasts
Petit F, Drecourt A, Dussiot M, Zangarelli C, Hermine O, Munnich A, Rotig A.
This study reports on abnormal cellular iron homeostasis in FA fibroblasts inducing a massive iron overload in the cytosol and mitochondria, with membrane transferrin receptor 1 (TfR1) accumulation, increased TfR1 endocytosis, and delayed transferrin recycling, and ascribe this to impaired TfR1 palmitoylation. 


Gauging Gait Disorders with a Method Inspired by Motor Control Theories: A Pilot Study in Friedreich's Ataxia
Gouelle A, Norman S, Sharot B, Salabarria S, Subramony S, Corti M.
The goal of this methodological article is to develop a new outcome measure, the Global Ambulation Score, inspired by the motor control theories to analyze gait using spatiotemporal parameters.


Modifiers of Somatic Repeat Instability in Mouse Models of Friedreich Ataxia and the Fragile X-Related Disorders: Implications for the Mechanism of Somatic Expansion in Huntington's Disease
Zhao X, Kumari D, Miller CJ, Kim GY, Hayward B, Vitalo AG, Pinto RM, Usdin K.
In this review the authors discuss mouse models of two non-CAG repeat expansion diseases, specifically the Fragile X-related disorders and Friedreich ataxia. They compare and contrast these models with mouse and patient-derived cell models of various other repeat expansion disorders and the relevance of these findings for somatic expansion in Huntington’s disease. 


Prognostic value of longitudinal strain and ejection fraction in Friedreich ataxia
Legrand L, Heuze C, Diallo A, Monin ML, Ewenczyk C, Vicaut E, Montalescot G, Isnard R, Durr A, Pousset F
In this study the prognostic value of Longitudinal strain (LS) measured from the 4 chambers view was compared to left ventricular ejection fraction (LVEF). In multivariate analysis, LVEF was the only independent predictor of mortality in FA, while LS was not an independent predictor of mortality.


Auditory Phenotypic Variability in Friedreich's Ataxia Patients
Koohi N, Thomas-Black G, Giunti P, Bamiou DE.
This study aimed to characterize the phenotypical spectrum of the auditory impairment in FA in order to facilitate early identification and timely management and to explore the relationship between the severity of auditory impairment with genetic variables (the size of GAA1 and GAA2).


The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice
Vural A, Şimşir G, Tekgül Ş, Koçoğlu C, Akçimen F, Kartal E, Şen NE, et al.
The objective of this study is to identify the prevalence and genetic structure of hereditary ataxias in the Turkish population.


The displacement of frataxin from the mitochondrial cristae correlates with abnormal respiratory supercomplexes formation and bioenergetic defects in cells of Friedreich ataxia patients
Doni D, Rigoni G, Palumbo E, Baschiera E, Peruzzo R, De Rosa E, Caicci F, Passerini L, Bettio D, Russo A, Szabò I, Soriano ME, Salviati L, Costantini P.
This work finds that in healthy cells, FXN and two key proteins of the FeS-cluster assembly machinery are enriched in mitochondrial cristae, while in FA cells FXN widely redistributes to the matrix, with defects in respiratory supercomplexes assembly and altered respiratory function.
Pharma News
Retrotope Granted Rare Pediatric Disease Designation from FDA for Lead Development Candidate, RT001, in Two Life-Threatening Neurodegenerative Indications

Retrotope, a clinical-stage biopharmaceutical company focused on the development of novel, first-in-class therapies for degenerative diseases, announced that the U.S. Food and Drug Administration (FDA) has granted two rare pediatric disease designations to RT001, the company’s lead development candidate. The first rare pediatric disease designation is for the treatment of infantile neuroaxonal dystrophy (INAD), with the second covering the treatment of Friedreich’s ataxia (FA). In addition, RT001 has been granted Fast Track designation by the FDA for the treatment of FA and orphan drug designation by the European Medicines Agency (EMA) for the treatment of INAD. RT001 has previously been granted orphan drug designation in the U.S. for the treatment of multiple diseases, including FA, progressive supranuclear palsy (PSP) and PLA2G6-associated neurodegeneration, which includes INAD. Read the full press release here.
The FARA Forum Webinars
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:

March 9, 2021
12:00 PM ET Diane Ward, University of Utah
12:45 PM ET David Corey, UT Southwestern

April 13, 2021
12:00 PM ET Jill Napierala, University of Alabama at Birmingham
12:45 PM ET Richard Possemato, NYU Langone Medical Center
Meetings of Interest to the FA Community
American Academy of Neurology, April 17-22, 2021 - Virtual. Registration now open.

24th American Society of Gene & Cell Therapy Annual Meeting, May 11 – 14, 2021 – Virtual. Registration now open.

National Ataxia Foundation Ataxia Investigators Meeting (AIM), May 24-27, 2021 – Virtual. Late breaking abstracts are being accepted through February 12, 2021.

Save the date for the inaugural International Congress for Ataxia Research (ICAR), March 15-18, 2022 - Orlando, Florida, USA.
Grant Opportunities
FARA research grants – Kyle Bryant Translational Research Award and Bronya J. Keats International Research Collaboration Award - LOI deadline is May 15, General grants – next LOI deadline is July 1, 2021

FARA Award for Innovative Mindset - This Request For Proposal promotes the initial exploration of innovative, high-risk, high-gain, and potentially groundbreaking concepts in FA research. The proposed research project should include a well-formulated, testable hypothesis based on strong scientific rationale and study design. The presentation of preliminary and/or published data is encouraged, but not required. The Application Submission Deadline is June 1, 2021. Access the full RFP here.

CIRM - Various grant opportunities for stem cell-related projects in California.

Wellcome Trust Innovator Award (UK) - Funding focus: development of diagnostics and repurposed medicines for neurological disorders including rare diseases. No deadline. 
Job Advertisements
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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