Marian Valko , Klaudia Jomova, Christopher J. Rhodes, Kamil Kuča, Kamil Musílek; Archives of Toxicology, First online: 07 September 2015 DOI:10.1007/s00204-015-1579-5
Frataxin is a mitochondrial iron chaperone protein and plays a key role in the insertion of ferrous ions during the assembly of iron–sulfur clusters in the mitochondrial respiratory chain. The defect leads to the release of mitochondrial iron with in turn may catalyze hydroxyl radical formation via Fenton chemistry.
Friday, September 11, 2015
Thursday, September 10, 2015
OUHSC professor, researcher gets $300,000 grant for research
The Oklahoma Daily; Wed Sep 9, 2015.
The three-year grant of $300,000 will fund research into promising therapies for a neuromuscular disease known as Friedreich's ataxia. Sanjay Bidichandani, is a professor of pediatrics at the OU College of Medicine and has worked at OU in the field of genetic research since 2000. Bidichandani’s research will evaluate the effectiveness of a new drug class known as HDAC inhibitors.
The three-year grant of $300,000 will fund research into promising therapies for a neuromuscular disease known as Friedreich's ataxia. Sanjay Bidichandani, is a professor of pediatrics at the OU College of Medicine and has worked at OU in the field of genetic research since 2000. Bidichandani’s research will evaluate the effectiveness of a new drug class known as HDAC inhibitors.
Tuesday, September 8, 2015
Prospects of gene and cell therapy for managing cardiac complications in Friedreich ataxia
Charles J Isaacs, Julianna E Shinnick, Kimberly Schadt, David R Lynch & Kimberly Y Lin; Expert Opinion on Orphan Drugs, Published online: 02 Sep 2015 DOI: 10.1517/21678707.2015.1083854
The state of research into gene and cell therapy for cardiac issues in FRDA is one that deserves cautious optimism. As these therapies move closer to testing in humans, researchers will need to identify proper dosing and delivery methods based on the nature of the patient’s disease, as well as which patient groups are most likely to realize benefits from proposed treatments. Future studies must further assess risk in larger animals and plan ways to minimize risk in human trials.
The state of research into gene and cell therapy for cardiac issues in FRDA is one that deserves cautious optimism. As these therapies move closer to testing in humans, researchers will need to identify proper dosing and delivery methods based on the nature of the patient’s disease, as well as which patient groups are most likely to realize benefits from proposed treatments. Future studies must further assess risk in larger animals and plan ways to minimize risk in human trials.
Monday, September 7, 2015
Quantitative evaluation of gait ataxia by accelerometers
Shinichi Shirai, Ichiro Yabe, Masaaki Matsushima, Yoichi M. Ito, Mitsuru Yoneyama, Hidenao Sasaki, Journal of the Neurological Sciences, Available online 3 September 2015, ISSN 0022-510X, http://dx.doi.org/10.1016/j.jns.2015.09.004.
Effect of power-assisted hand-rim wheelchair propulsion on shoulder load in experienced wheelchair users: A pilot study with an instrumented wheelchair
Marieke G.M. Kloosterman, Jaap H. Buurke, Wiebe de Vries, Lucas H.V. Van der Woude, Johan S. Rietman, Medical Engineering & Physics, Available online 22 August 2015, ISSN 1350-4533, http://dx.doi.org/10.1016/j.medengphy.2015.07.004.
According to the guidelines, in order to create a better balance between mechanical loading and the work-capacity of the shoulder complex during propulsion, power-assisted propulsion on a treadmill is effective in reducing the majority of the potential risk factors of shoulder injury. Therefore, the use of power-assisted wheelchairs might be indicated for subjects prone to developing overuse injuries due to hand-rim propulsion or subjects with difficulties driving a hand-rim wheelchair primarily due to lack of upper-extremity power.
According to the guidelines, in order to create a better balance between mechanical loading and the work-capacity of the shoulder complex during propulsion, power-assisted propulsion on a treadmill is effective in reducing the majority of the potential risk factors of shoulder injury. Therefore, the use of power-assisted wheelchairs might be indicated for subjects prone to developing overuse injuries due to hand-rim propulsion or subjects with difficulties driving a hand-rim wheelchair primarily due to lack of upper-extremity power.
Thursday, September 3, 2015
Friedreich ataxia in Norway – an epidemiological, molecular and clinical study
Iselin Marie Wedding, Mette Kroken, Sandra Pilar Henriksen, Kaja Kristine Selmer, Torunn Fiskerstrand, Per Morten Knappskog, Tone Berge and Chantal ME Tallaksen; Orphanet Journal of Rare Diseases 2015, 10:108 doi:10.1186/s13023-015-0328-4
OPEN ACCESS
Twenty-nine Friedreich ataxia patients were identified in Norway, of which 23 were ethnic Norwegian, corresponding to a prevalence of 1:176 000 and 1:191 000, respectively. The highest prevalence was seen in the north. Carrier frequency of 1:196 (95 % CI = [1:752–1:112]) was found.
OPEN ACCESS
Twenty-nine Friedreich ataxia patients were identified in Norway, of which 23 were ethnic Norwegian, corresponding to a prevalence of 1:176 000 and 1:191 000, respectively. The highest prevalence was seen in the north. Carrier frequency of 1:196 (95 % CI = [1:752–1:112]) was found.
Pilot Study of a 3d Motion Device- Feasibility Assessment in Patients with Parkinson’s Disease and Friedreich’s Ataxia
Disease Category: Friedreich's Ataxia
Location: University of South Florida- Mosani Center for Advnaced Healthcare, Tampa, FL 33612 United States
This study includes the use of a 3D motion device that measures movement in three directions. It is being used as part of this research study to find out if it accurately tracks motion so it can be used in other ataxia research trials in the future.
Location: University of South Florida- Mosani Center for Advnaced Healthcare, Tampa, FL 33612 United States
This study includes the use of a 3D motion device that measures movement in three directions. It is being used as part of this research study to find out if it accurately tracks motion so it can be used in other ataxia research trials in the future.
EUCHROMATIC REGION TARGETING METHODS FOR MODULATING GENE EXPRESSION
United States Patent Application 20150232858, Inventors: Ozsolak, Fatih (Boston, MA, US), RaNA Therapeutics, Inc. (Cambridge, MA, US). Publication Date: 08/20/2015
According to some aspects of the invention, methods and compositions are provided herein that are useful for increasing gene expression in a targeted and specific manner. Aspects of the invention are based on the identification of euchromatic regions of genes that overlap with sequences encoding antisense RNA transcripts. It has been found that oligonucleotides that are complementary to these particular euchromatic regions of target genes are useful for increasing expression of target genes when delivered to cells. In some embodiments, oligonucleotides are provided that are complementary with these euchromatic regions and that have chemistries suitable for delivery, hybridization and stability within cells. Furthermore, in some embodiments, oligonucleotide chemistries are provided that are useful for controlling the pharmacokinetics, biodistribution, bioavailability and/or efficacy of the oligonucleotides in vivo. Accordingly, in some embodiments, oligonucleotides provided herein are useful for the treatment of diseases or conditions associated with decreased levels of target genes.....
According to some aspects of the invention, methods and compositions are provided herein that are useful for increasing gene expression in a targeted and specific manner. Aspects of the invention are based on the identification of euchromatic regions of genes that overlap with sequences encoding antisense RNA transcripts. It has been found that oligonucleotides that are complementary to these particular euchromatic regions of target genes are useful for increasing expression of target genes when delivered to cells. In some embodiments, oligonucleotides are provided that are complementary with these euchromatic regions and that have chemistries suitable for delivery, hybridization and stability within cells. Furthermore, in some embodiments, oligonucleotide chemistries are provided that are useful for controlling the pharmacokinetics, biodistribution, bioavailability and/or efficacy of the oligonucleotides in vivo. Accordingly, in some embodiments, oligonucleotides provided herein are useful for the treatment of diseases or conditions associated with decreased levels of target genes.....
Wednesday, September 2, 2015
Friedreich's Ataxia Symposium, Date: Oct 12
Date: Oct 12, 7:30 a.m.-4:00 p.m. (ET). DoubleTree by Hilton Hotel Philadelphia – Valley Forge. 301 West DeKalb Pike, King of Prussia, PA 19406
The Friedreich’s Ataxia Center of Excellence at The Children’s Hospital of Philadelphia is pleased to present this one-day symposium providing patients and families with up-to-date clinical information on therapeutic approaches and current research being conducted in the field of Friedreich’s ataxia.
The Friedreich’s Ataxia Center of Excellence at The Children’s Hospital of Philadelphia is pleased to present this one-day symposium providing patients and families with up-to-date clinical information on therapeutic approaches and current research being conducted in the field of Friedreich’s ataxia.
University of South Florida and Friedreich's Ataxia Research Alliance to host scientific symposium
EurekAlert. Pharma, biotech leaders to discuss new clinical studies testing drugs and gene therapy for FA. University of South Florida (USF Health)
Tampa, FL (Sept 1, 2015) -- The University of South Florida (USF) will again bring together leading researchers and patients searching for a treatment for Friedreich's ataxia and related disorders at the seventh annual scientific symposium "Understanding Energy for A Cure." The symposium will be held 5 to 8:30 p.m., Thursday, Sept. 17, at the USF Marshall Student Center Ballroom, USF Cedar Circle, Tampa, FL 33620.
Tampa, FL (Sept 1, 2015) -- The University of South Florida (USF) will again bring together leading researchers and patients searching for a treatment for Friedreich's ataxia and related disorders at the seventh annual scientific symposium "Understanding Energy for A Cure." The symposium will be held 5 to 8:30 p.m., Thursday, Sept. 17, at the USF Marshall Student Center Ballroom, USF Cedar Circle, Tampa, FL 33620.
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