Request for Applications: Center for Orphan Disease Research and Therapy Postdoctoral Fellowship for Research Related to Friedreich's Ataxia

Request for Applications: Center for Orphan Disease Research and Therapy Postdoctoral Fellowship for Research Related to Friedreich's Ataxia The CODRT Postdoctoral Fellowship provides a one-year grant of $35,000 to support the salary of a Fellow while working on a mentored project related to Friedreich's ataxia disease. Overview of Science: Friedreich's Ataxia (FRDA) Research priorities in Friedreich's ataxia include: -- Advance understanding of neuroscience / neuro systems – understanding the neurodegeneration of FA and implications for therapies -- Advance drug discovery, including research that would lead to target validation or to genetic, epigenetic and protein approaches that target increasing frataxin levels -- Development and validation of biomarkers, especially those that measure frataxin or the direct consequences of frataxin deficiency in affected tissue (CNS, muscle or cardiac) Eligibility At the time of application, the applicant must possess a Ph.D., M.D., or V.M.D. and should not have completed more than 5 years of postdoctoral research. At the time of award, the applicant must not be simultaneously serving an internship or residency. Applicants must work for a non-profit institution or foundation, and may not have faculty appointments. There are no citizenship requirements for this program. The timeline for the RFA/grant program is as follows: Time Lines: RFA Release Posted: August 1, 2014 Pre-application deadline:...
Source: ScanGrants feed - Category: Research Authors: Source Type: funding

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Condition:   Friedreich Ataxia Interventions:   Drug: Vatiquinone;   Drug: Placebo Sponsor:   PTC Therapeutics Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
(Mary Ann Liebert, Inc./Genetic Engineering News) Gene therapy was successfully used to overcome the cardiac effects of Freidreich's ataxia (FA) in a mouse model of the disease
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
Conditions:   FXN Gene;   FRDA;   Hereditary Diseases Intervention:   Sponsor:   Centogene AG Rostock Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Authors: Zesiewicz TA, Hancock J, Ghanekar SD, Kuo SH, Dohse CA, Vega J Abstract INTRODUCTION: Friedreich's ataxia (FRDA) is a progressive, neurodegenerative disease that results in gait and limb ataxia, diabetes, cardiac hypertrophy, and scoliosis. At the cellular level, FRDA results in the deficiency of frataxin, a mitochondrial protein that plays a vital role in iron homeostasis and amelioration of oxidative stress. No cure currently exists for FRDA, but exciting therapeutic developments which target different parts of the pathological cascade are on the horizon. AREAS COVERED: Areas covered include past and eme...
Source: Expert Review of Neurotherapeutics - Category: Neurology Tags: Expert Rev Neurother Source Type: research
In this study, the neural phenotype is explored in rodent models of the spinocerebellar disorder known as the Friedreich Ataxia (FA), which results from mutations within the gene encoding the Frataxin mitochondrial protein. For this, the M12 line, bearing a targeted mutation, which disrupts the Frataxin gene exon 4 was used, together with the M02 line, which, in addition, is hemizygous for the human Frataxin gene mutation (Pook transgene), implying the occurrence of 82–190 GAA repeats within its first intron. The mutant mice phenotype was compared to the one of wild type littermates in regions undergoing differen...
Source: Molecules - Category: Chemistry Authors: Tags: Article Source Type: research
ACS Chemical NeuroscienceDOI: 10.1021/acschemneuro.0c00323
Source: ACS Chemical Neuroscience - Category: Neuroscience Authors: Source Type: research
Friedreich ´s Ataxia is an autosomal recessive genetic disease causing the defective gene product, frataxin. A body of literature has been focused on the attempts to counteract frataxin deficiency and the consequent iron imbalance, in order to mitigate the disease-associated prooxidant state and clinical cour se. The present mini review is aimed at evaluating the basic and clinical reports on the roles and the use of a set of iron chelators, antioxidants and some cofactors involved in the key mitochondrial functions.
Source: Translational Research - Category: Research Authors: Source Type: research
We describe the 5-year experience of the National Ataxia Clinic (NAC), Ireland. All adults with ataxia attending the NAC between 2014 and 2019 were evaluated. All individuals underwent detailed clinical assessment and investigations including, where appropriate, genetic testing using next-generation sequencing. For all patients, acquired causes were ruled out. A total of 254 patients from 196 families were assessed; with growth of the clinic cohort by 82% from 133 to 242 over the 5-year period. The underlying genetic cause was identified in 128/196 probands (65.3%). The detection rate for repeat expansion disorder gene tes...
Source: Cerebellum - Category: Neuroscience Authors: Tags: Cerebellum Source Type: research
Publication date: 2018Source: International Review of Neurobiology, Volume 143Author(s): Mario Mascalchi, Alessandra VellaAbstractMagnetic resonance imaging (MRI), single photon emission computed tomography (SPECT) and positron emission tomography (PET) are the main instruments for neuroimaging investigation of patients with chronic ataxia. MRI has a predominant diagnostic role in the single patient, based on the visual detection of three patterns of atrophy, namely, spinal atrophy, cortical cerebellar atrophy and olivopontocerebellar atrophy, which correlate with the aetiologies of inherited or sporadic ataxia. In fact sp...
Source: International Review of Neurobiology - Category: Neuroscience Source Type: research
Publication date: Available online 29 October 2018Source: International Review of NeurobiologyAuthor(s): Mario Mascalchi, Alessandra VellaAbstractMagnetic resonance imaging (MRI), single photon emission computed tomography (SPECT) and positron emission tomography (PET) are the main instruments for neuroimaging investigation of patients with chronic ataxia. MRI has a predominant diagnostic role in the single patient, based on the visual detection of three patterns of atrophy, namely, spinal atrophy, cortical cerebellar atrophy and olivopontocerebellar atrophy, which correlate with the aetiologies of inherited or sporadic at...
Source: International Review of Neurobiology - Category: Neuroscience Source Type: research
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