FA Research Flash Talk Series |
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In honor of FA Awareness month in May, FARA is proud to present: The third annual FA Research Flash Talks series - featuring Young Investigators from FARA funded laboratories around the world. Each session will include Flash Talks from five Young Investigators and will be moderated by an FA Community member. For a full list of speakers, click here.
Register today for one or all of the remaining sessions. (The recording of the first session can be viewed here.)
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Abstract submission and registration are now open. The abstract submission deadline is June 13th, 2022
Abstract acceptance will be announced by August 15th, 2022.
You can view the preliminary program and invited speakers here.
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Two UF students are working to end their rare disease, Friedreich Ataxia
This WUFT/NPR article features FA Community Advocates and doctoral students in the Genetics and Genomics Program at the University of Florida, Shandra Trantham and Christian Maugee. Click here to read more about Shandra and Christian's journeys with FA and their incredible work.
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Recent FARA Funded FA Publications |
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Bone Mineral Density and Current Bone Health Screening Practices in Friedreich's Ataxia.
Dunn J, Tamaroff J, DeDio A, Nguyen S, Wade K, Cilenti N, Weber DR, Lynch DR, McCormack SE.
In this study, dual energy X-ray absorptiometry (DXA) scan-based assessments of areal bone mineral density (aBMD) in individuals with FRDA were abstracted from four studies at the Children's Hospital of Philadelphia (CHOP). Individuals with FRDA have lower aBMD Z-scores than healthy controls. Lower femoral neck aBMD correlated with functional disease severity. Low aBMD is prevalent in FRDA, but few of even the highest risk individuals are undergoing screening. These findings highlight potential missed opportunities for the screening and treatment of low aBMD in FRDA.
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Posttranslational Regulation of Mitochondrial Frataxin and Identification of Compounds that Increase Frataxin Levels in Friedreich's Ataxia.
Hackett PT, Jia X, Li L, Ward DM.
This study shows that conditions that result in increased mitochondrial reactive oxygen species in yeast or mammalian cell culture give rise to increased turnover of frataxin, but not of other iron-sulfur cluster synthesis proteins. A library of FDA-approved compounds was screened and 38 compounds that increased yeast frataxin levels were identified. Top hits 4-hydroxychalcone and dibenzoylmethane increased mRNA levels of transcription factor Nrf2 in FRDA patient-derived fibroblasts, as well as downstream antioxidant targets thioredoxin, glutathione reductase, and superoxide dismutase 2.
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Functional MRI Studies in Friedreich's Ataxia: A Systematic Review.
Vavla M, Arrigoni F, Peruzzo D, Montanaro D, Frijia F, Pizzighello S, De Luca A, Della Libera E, Tessarotto F, Guerra P, Harding IH, Martinuzzi A.
This systematic review aimed to provide a critical overview of the findings and methodologies of all fMRI studies conducted in genetically confirmed FRDA so far, and to offer recommendations for future study designs.
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Aberrant Cerebral Iron Trafficking Co-morbid With Chronic Inflammation: Molecular Mechanisms and Pharmacologic Intervention.
Rosenblum SL, Kosman DJ.
This review summarizes the evidence that support the hypothesis that inflammatory stress alters both the trans- and para-cellular flux of iron at the blood-brain barrier resulting in a net accumulation of abluminal iron in the brain over time in neurodegenerative disorders.
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Cerebellar Pathology in an Inducible Mouse Model of Friedreich Ataxia.
Mercado-Ayón E, Warren N, Halawani S, Rodden LN, Ngaba L, Dong YN, Chang JC, Fonck C, Mavilio F, Lynch DR, Lin H.
Here the authors report that doxycycline-induced frataxin knockdown in a mouse model of FRDA (FRDAkd) leads to synaptic cerebellar degeneration that can be partially reversed by AAV8-mediated frataxin restoration.
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The smoothened agonist SAG reduces mitochondrial dysfunction and neurotoxicity of frataxin-deficient astrocytes.
Vicente-Acosta A, Giménez-Cassina A, Díaz-Nido J, Loria F.
This study investigated the reactivity status and functioning of cultured human astrocytes after frataxin depletion using an RNA interference-based approach and tested the effect of pharmacologically modulating the SHH pathway as a novel neuroprotective strategy.
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Yeast cells depleted of the frataxin homolog Yfh1 redistribute cellular iron: studies using Mössbauer spectroscopy and mathematical modeling.
Fernandez S, Wofford JD, Shepherd RE, Vali SW, Dancis A, Lindahl PA.
This study, primarily using Mössbauer spectroscopy, investigated the iron content of a yeast strain in which expression of Yeast Frataxin Homolog 1 (Yfh1), oxygenation conditions, iron concentrations, and metabolic modes were varied.
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Predicting Mitochondrial Dynamic Behavior in Genetically Defined Neurodegenerative Diseases.
Dorn GW 2nd, Dang X.
This review outlines the roles of different mitochondrial dynamic processes in mitochondrial quantity and quality control, emphasizing their impact on the neurological system in Charcot-Marie-Tooth disease type 2A, amyotrophic lateral sclerosis, Friedreich's ataxia, dominant optic atrophy, and Alzheimer's, Huntington's, and Parkinson's diseases.
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Cognitive Dysfunction in Repeat Expansion Diseases: A Review.
Zhang S, Shen L, Jiao B.
Here, the authors survey literature on the cognitive consequences of repeat expansion disorders and summarize the pathogenic genes, epidemiology, and different domains affected by these diseases.
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Towards a metabolomic approach to investigate iron-sulfur cluster biogenesis.
Marengo M, Fissore A, Oliaro-Bosso S, Adinolfi S, Pastore A.
This study presents a new approach to study the enzymatic reaction of iron-sulfur cluster formation, that is based on the combination of genetically engineered bacterial strains depleted of specific components, and the detection of the enzymatic kinetics in cellular extracts through metabolomics.
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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. Here are the next dates:
May 10, 2022
6:00 PM ET Christina Cortez-Jugo, University of Melbourne
There will be no forum in June.
July 12, 2022
12:00PM ET Giovanni Manfredi, Cornell University
August 9, 2022
12:00PM ET Stephanie Cherqui, University of California San Diego
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FARA Newly Awarded Research Grants
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Award for Innovative Mindset
A New Ultrasensitive Single-Molecule Assay for Frataxin Measurement
Ankur Jain, PhD, Whitehead Institute for Biomedical Research and
Ricardo Mouro Pinto, PhD, Harvard Medical School and Massachusetts General Hospital
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Meetings of Interest to the FA Community |
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The Ataxia Global Initiative (AGI) is holding a webinar series called Young Investigator Initiative (YII). The next webinar “Fluid biomarkers for trial readiness in ataxia” will be held on Tuesday May 17, 2022 at 5pm CEST. You can register and find more information on upcoming webinars here.
Neurodegeneration: The Biological Pathways Driving the Future of Therapeutic Development, joint with Neuro-Immune Interactions in the Central Nervous System, Keystone CO June 05 - 09, 2022
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General Research Grants – next LOI deadline is August 15, 2022. See FARA grant program priorities here.
The Chan Zuckerberg Initiative invites applications from collaborative teams bringing together patient-led rare disease organizations and research teams for 4-year research projects aimed at advancing our understanding of the fundamental science of rare diseases.
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RFA for Patient-Partnered Collaborations for Single-Cell Analysis of Rare Inflammatory Pediatric Disease – application deadline is May 24, 2022.
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RFA for Patient-Partnered Collaborations for Rare Neurodegenerative Disease – application deadline is May 24, 2022.
CIRM - Various grant opportunities for stem cell-related projects in California.
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