There is an opening for a postdoctoral fellow position at the Department of Biochemistry and Molecular Genetics, University of Alabama at Birmingham to work in the field of Friedreich’s ataxia. Interests of the laboratory include elucidating mechanisms of epigenetic silencing caused by expanded GAA repeats, developing new therapeutic approaches for the disease and defining new biomarkers of FRDA. The work will be conducted using predominantly cellular models of the disease, including induced pluripotent stem cells (iPSCs) and neuronal and cardiac cells derived from iPSC lines, as well as mouse models of the disease. We are seeking a highly motivated and career-oriented individual with advanced tissue culture, molecular biology and biochemistry skills. Under supervision, the successful candidate will be responsible for experiment design, data acquisition, analysis and interpretation, and manuscript writing. Previous experience in the field of repeat expansion diseases, especially working with mouse models of neurodegenerative disease, is preferred. Interested individuals please contact directly Dr. Marek Napierala (
Scientific News
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In this section, you will find the most recent FA research publications, many of which are funded by FARA, as well as information on upcoming conferences and symposiums. You can search for articles by date using the archive box in the right hand column. To locate FARA Funded or Supported Research, click the hyperlink in the right hand column. You may also search for specific content using key words or phrases in the search button at the top right of your screen. Please be sure to visit other key research sections of our website for information on FARA's Grant Program and the Treatment Pipeline.
Job Opportunity: Postdoctoral Fellow Position open at University of Alabama at Birmingham
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Dorsal root ganglia in Friedreich ataxia: satellite cell proliferation and inflammation
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Dorsal root ganglia (DRG) are highly vulnerable to frataxin deficiency in Friedreich ataxia (FA). An immunohistochemical and immunofluorescence study of DRG in 15 FA cases and 12 controls revealed that FA causes major primary changes in satellite cells and inflammatory destruction of neurons. Reaction product of the cytoplasmic markers and laminin confirmed proliferation of satellite cells and processes into multiple perineuronal layers and residual nodules. The formation of connexin 43-reactive gap junctions between satellite cells was strongly upregulated. Proliferating satellite cells in FA displayed many more frataxin- and ATP5B-reactive mitochondria than normal. Monocytes entered into the satellite cell layer, appeared to penetrate neuronal plasma membranes, and infiltrated residual nodules. Satellite cells and IBA1-reactive monocytes displayed upregulated ferritin biosynthesis, which was most likely due to leakage of iron from dying neurons.
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Horizon Pharma plc Completes Target Enrollment of 90 Patients for Phase 3 Trial of ACTIMMUNE(R) (interferon gamma-1b) for the Treatment of People With Friedreich's Ataxia
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DUBLIN, IRELAND -- (Marketwired) -- 05/05/16 -- Horizon Pharma plc (NASDAQ: HZNP), a biopharmaceutical company focused on improving patients' lives by identifying, developing, acquiring and commercializing differentiated and accessible medicines that address unmet medical needs, today announced that it has completed target enrollment of its Phase 3 study evaluating ACTIMMUNE (interferon gamma-1b) for the treatment of people with Friedreich's ataxia (FA), a degenerative neuro-muscular disorder. The study (NCT02415127) has reached its target enrollment of 90 patients at four sites in the United States, and top-line results are expected by the end of 2016.
"The achievement of this important milestone would not have been possible without the passionate commitment of people living with FA, the Friedreich's Ataxia Research Alliance and our Phase 3 study investigators," said Jeffrey W. Sherman, M.D., FACP, executive vice president, research and development and chief medical officer, Horizon Pharma plc. "We are grateful for their collective partnership and guidance, which drives our efforts toward providing a potential treatment option for this debilitating disorder."
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Frataxin and the molecular mechanism of mitochondrial iron-loading in Friedreich's ataxia
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The mitochondrion is a major site for the metabolism of iron, which is necessary for metabolic processes critical for cell vitality. The mitochondrial protein, frataxin, is known to play a significant role in both cellular and mitochondrial iron metabolism due to its iron-binding properties and its involvement in iron-sulfur cluster (ISC) and heme synthesis. The inherited neuro- and cardio-degenerative disease, Friedreich's ataxia (FA), is caused by the deficient expression of frataxin that leads to deleterious alterations in iron metabolism. These changes lead to the accumulation of inorganic iron aggregates in the mitochondrial matrix that are presumed to play a key role in the oxidative damage and subsequent degenerative features of this disease. Furthermore, the concurrent dys-regulation of cellular antioxidant defense, which coincides with frataxin deficiency, exacerbates oxidative stress.
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Time-resolved functional analysis of acute impairment of frataxin expression in an inducible cell model of Friedreich ataxia
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This group has developed a new model of Friedreich's Ataxia, in which they can switch on or off the loss of frataxin in mouse embryonic fibroblasts . After loss of frataxin protein, cell division, aconitase activity and oxygen consumption rates were decreased, while ROS production was increased. A time-resolved analysis revealed the loss of aconitase activity as an initial event after induction of complete frataxin deficiency, followed by secondarily elevated ROS production and a late increase in iron content. Initial impairments of oxygen consumption and ATP production were found to be compensated in the late state and seemed to play a minor role in Friedreich ataxia pathophysiology. In conclusion and as predicted from its proposed role in iron sulfur cluster (ISC) biosynthesis, disruption of frataxin primarily causes impaired function of ISC-containing enzymes, whereas other consequences, including elevated ROS production and iron accumulation, appear secondary. These parameters and the robustness of the newly established system may additionally be used for a time-resolved study of pharmacological candidates in a high throughput manner.
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- Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich ataxia
- Development of an AAV9 coding for a 3XFLAG-TALEfrat#8-VP64 able to increase in vivo the human frataxin in YG8R mice
- Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency
- Lymphoblast Oxidative Stress Genes as Potential Biomarkers of Disease Severity and Drug Effect in Friedreich's Ataxia
- Effects of Genetic Severity on Glucose Homeostasis in Friedreich Ataxia