ICAR 2022 – Registration is Open! |
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Register HERE before October 1st, 2022 to avoid the late fee.
You can view the preliminary program and invited speakers HERE.
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NIH BRAIN Initiative Challenge |
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What does the future look like? Jake Juip, a 16-year-old with Friedreich’s Ataxia, shared his perspectives about Ethical Considerations for Brain Technologies in his video submission to the NIH’s BRAIN Initiative Challenge.
Jake’s video was selected as a Tier 1 Winner! In addition to receiving a federal prize, he also had the opportunity to participate in a lively discussion with Drs. John Ngai, Director of the NIH BRAIN Initiative, Walter Koroshetz, Director of the National Institute and Neurological Disorders and Stroke, Debara Tucci, Director of the National Institute on Deafness and Other Communication Disorders, and Richard Hodes, Director of the National Institute on Aging.
During the discussion, Jake shared his journey with Friedreich’s Ataxia, including losing his ability to walk, and his key takeaways for neuroethical considerations. Jake spoke about the need for researchers to move boldly and swiftly to advance breakthroughs in medical research. He pledged to collaborate with urgency, transparency, and mutual respect to bring the patient experience to clinical research.
Congratulations on this well-deserved honor, Jake! Together, we will cure FA!
Jake’s winning video can be viewed HERE.
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Recent FARA Funded FA Publications
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Premature transcription termination at the expanded GAA repeats and aberrant alternative polyadenylation contributes to the Frataxin transcriptional deficit in Friedreich's ataxia.
Li Y, Li J, Wang J, Zhang S, Giles K, Prakash TP, Rigo F, Napierala JS, Napierala M.
This study shows that transcription of FXN in patient cells is prematurely terminated upstream of the expanded repeats leading to formation of a novel, truncated and stable RNA. This FXN early terminated transcript, (FXN-ett) undergoes alternative, non-productive splicing and does not contribute to the synthesis of functional frataxin. Targeting GAAs with antisense oligonucleotides or excision of the repeats eliminates the transcription impediment, diminishes expression of the aberrant FXN-ett, while increasing levels of FXN mRNA and frataxin.
A Drug Combination Rescues Frataxin-Dependent Neural and Cardiac Pathophysiology in FA Models.
Abeti R, Jasoliya M, Al-Mahdawi S, Pook M, Gonzalez-Robles C, Hui CK, Cortopassi G, Giunti P.
This paper presents a combinatorial approach to screen approved compounds to determine if a combination of molecules provides an additive or synergistic benefit to FA cells and/or animal models. The authors showed that the simultaneous administration of dimethyl fumarate and resveratrol was the most effective in terms of FXN mRNA and mitobiogenesis increase, improved mitochondrial function and reduced reactive oxygen species in neurons and cardiomyocytes. Behavioral tests in an FA mouse model demonstrated improved rotarod performance.
Advantages and Limitations of Gene Therapy and Gene Editing for Friedreich's Ataxia.
Sivakumar A, Cherqui S.
In this review, the authors provide an overview on the current and emerging prospects of gene therapy for FRDA, with specific focus on advantages of CRISPR/Cas9-mediated gene editing of FXN as a viable option to restore endogenous frataxin expression. They also assess the potential of ex vivo gene editing in hematopoietic stem and progenitor cells as a potential autologous transplantation therapeutic option and discuss its advantages in tackling FRDA-specific safety aspects for clinical translation.
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Neuroinflammation in Friedreich's Ataxia.
Apolloni S, Milani M, D'Ambrosi N.
In this review article, the authors discuss evidence of the involvement of neuroinflammatory-related mechanisms in models of FRDA and provide clues for the modulation of glial-related mechanisms as a possible strategy to improve disease features.
Metal Ion Binding in Wild-Type and Mutated Frataxin: A Stability Study.
Morante S, Botticelli S, Chiaraluce R, Consalvi V, La Penna G, Novak L, Pasquo A, Petrosino M, Proux O, Rossi G, Salina G, Stellato F.
This work studies the stability of wild-type frataxin and some of its variants found in cancer tissues upon Co2+ binding. Protein stability is monitored following the conformational changes induced by Co2+ binding as measured by circular dichroism, fluorescence spectroscopy, and melting temperature measurements.
Hereditary Ataxia Overview.
Perlman S.
The purpose of this overview on hereditary ataxia is to increase the awareness of clinicians regarding the causes of hereditary ataxia, related genetic counseling issues, and management.
A clinical and epidemiological prevalence study on Friedreich's Ataxia in Latium, Italy.
Romano S, Bacigalupo I, Marcotulli C, Cioffi E, Bertini ES, Vasco G, Perna A, Petrucci A, Massa R, Frezza E, Romano C, Salvetti M, Ristori G, Silvestri G, Vanacore N, Casali C.
This study aims at estimating the prevalence of FRDA in a highly populated region of Italy and to define the patients' molecular and clinical characteristics.
Friedreich ataxia: clinical features and new developments.
Keita M, McIntyre K, Rodden LN, Schadt K, Lynch DR.
This review explores new developments in FRDA therapeutic interventions, and new perspectives on the neuroanatomy of FRDA and its developmental features.
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FARA Newly Awarded Research Grants
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Kyle Bryant Translational Research Award
Detection and enhancement of tissue NAD+ levels in Friedreich’s Ataxia
Joseph Baur, PhD (University of Pennsylvania) and Shana McCormack, MD (Children’s Hospital of Philadelphia)
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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:
August 9, 2022 - 12:00PM ET
Stephanie Cherqui, University of California San Diego
September 13, 2022 – 12:00PM ET
Erin Seifert, Thomas Jefferson University
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The LOI must explain how the proposed research addresses FARA’s grant program priorities and should be sufficiently detailed to allow the reader to understand the validity and applicability of the project. Only selected LOIs will be invited to submit a full application. This is a competitive, peer-reviewed process, as such only a small number of applications are accepted past the LOI phase.
NIH funding opportunities, R03, Small Grant Program: The purpose of this funding opportunity announcement is to solicit applications for pilot projects to elucidate a role for understudied proteins associated with rare diseases. Awards will support generation of preliminary data and/or tools around eligible understudied protein(s). The next application deadline is October 17, 2022
Other grant opportunities from CIRM can be found HERE.
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Meetings of Interest to the FA Community |
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