FARA has identified opportunities to fund research at institutions where there are multiple investigators with an expertise and commitment to FA research and/or opportunity to leverage technologies, innovation, or further grow the FA research community. By establishing these institutional programs and partnerships we are able to promote collaboration and synergy across basic, translational and clinical research, provide a longer-term commitment for research, attract new investigators, and leverage the institutions resources and engagement. FARA provides institutional based research support for the FA Center of Excellence at Penn Medicine/ Children’s Hospital of Philadelphia and the FA Accelerator program at the Broad Institute.
Friedreich’s Ataxia Center of Excellence, Philadelphia, PA
The FA Center of Excellence (COE) is a translational research and clinical care center devoted to Friedreich ataxia. The center’s goals include expediting basic science and drug discovery findings to new treatments and dedicating resources to clinical research and care to further understand the disease, inform drug development, and improve outcomes for individuals living with FA. The Center was established in March 2014, with a commitment to the Children's Hospital of Philadelphia and University of Pennsylvania, presented by FARA in partnership with the Hamilton and Finneran families. FARA has maintained this funding partnership with the CureFA Foundation (established by the Hamilton and Finneran families) to advance research through the COE.
Projects and investigators with continued funding included:
Dr. Wilson applies his expertise in early drug discovery and screening to development of models for drug screening and to the identification of new therapeutic targets for FA.
Dr. Lynch leads clinical and translational research teams focused on understanding the neurological aspects of FA and evaluating novel therapies. The clinical team is the lead site for a natural history study, FACOMS, and they are active in other biomarker and treatment trials. The translational team focuses on studying how frataxin deficiency leads to cellular changes in neurons; the interaction of frataxin and other proteins; and testing drugs and treatment approaches in animal models.
Translational and Clinical Neuroscience Research
The Blair lab has developed new and improved methods for the measurement of frataxin, the protein that is deficient in FA, for both pre-clinical and clinical development. In addition, this lab works on methods to identify and track changes in other molecules that may predict the course of disease or the effect of treatments.
Dr. Lin is primarily focused on understanding the natural history of cardiac disease in FA, the discovery of biomarkers and endpoints that can be used in future clinical trials and novel approaches to treatment and improved clinical outcomes.
Dr. Shana McCormack - Metabolism and Endocrinology
Dr. McCormack's clinical practice and research efforts focus on growth and development, diabetes management, evaluation of muscle specific biomarkers, and studies of exercise and nutrition in FA.
Dr. Phillips-Cremins studies basic mechanisms of gene silencing. Although new to FA, she has made significant contributions to understanding how DNA conformation contributes to gene silencing
The Center supports work within the core disciplines of neurology, cardiology, biomarker and drug discovery, as well as fostering efficient collaboration and synergy across them. In its first seven years, the COE reached several significant research milestones with the discovery of possible treatment candidates, the study of new biomarkers to measure the disease, and launch of promising neurologic and cardiac clinical trials and studies. Funding provided by the COE enabled early research findings which have allowed investigators to apply for and receive larger grants from the National Institutes of Health to continue to expand this important work.
CHOP website - https://www.chop.edu/centers-programs/friedreichs-ataxia-program
The Friedreich’s Ataxia Accelerator, Cambridge MA
The Friedreich’s Ataxia Accelerator (FAA) at the Broad Institute of MIT and Harvard was established in August 2020. Funded by FARA, in collaboration with the CureFA Foundation and EndFA, the accelerator is currently supporting the work of three world class scientists as they apply their expertise to the discovery of new approaches that could lead to treatments for FA.
The leader of the accelerator, Dr. Vamsi Mootha, a Howard Hughes Medical Institute investigator, and his collaborators previously discovered that limited oxygen in cells, or hypoxia, rejuvenates cells that lack frataxin. The other two founding investigators include Dr. Gary Ruvkun, a professor of genetics at Harvard Medical School and Massachusetts General Hospital, who is using simple model systems to test different molecules for their ability to rescue frataxin-deficient cells. Dr. David Liu, who is also a Howard Hughes Medical Institute investigator, is applying new gene editing technologies to directly correct the genetic causes of Friedreich’s ataxia. Additional “catalyst” projects will support other Broad researchers to apply their expertise and technology to FA research.
A Howard Hughes Medical Institute investigator, Dr. Mootha and his collaborators previously discovered that limited oxygen in cells, or hypoxia, rejuvenates cells that lack frataxin. They are now working to discover why low oxygen allows cells to bypass the need for frataxin and whether a therapy can be developed that mimics the effects of low oxygen.
A professor of genetics at Harvard Medical School and Massachusetts General Hospital, Dr. Ruvkun is using simple model system to test different molecules for their ability to rescue frataxin-deficient cells.
Dr. Liu, who is also a Howard Hughes Medical Institute investigator, is applying new gene editing technologies to directly correct the genetic causes of Friedreich’s ataxia.