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.
Thursday, September 3, 2015
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.
Monday, August 31, 2015
An exploratory qualitative investigation of psychosocial determinants of parental decisions to support sport participation for youth with a mobility impairment
Celina H. Shirazipour, Amy E. Latimer-Cheung, Kelly P. Arbour-Nicitopoulos, Research in Developmental Disabilities, Volumes 45–46, October–November 2015, Pages 400-410, ISSN 0891-4222, http://dx.doi.org/10.1016/j.ridd.2015.08.001.
Compared to parents of non-athletes, parents of athletes identified different, more specific positive outcome expectations, including: being included and family networking. First, while parents of non-athletes viewed inclusion as a social benefit, half of parents of athletes stated that inclusion through sport and being part of the mainstream were important benefits in their own rights, providing distinct outcomes including a sense of normalcy. Second, half of the parents of athletes identified the family benefit of networking with other families. The family network developed within the sport organization provided opportunities to share their enjoyment of their children’s participation, discuss impairment concerns, and gain knowledge from others’ experiences.
Compared to parents of non-athletes, parents of athletes identified different, more specific positive outcome expectations, including: being included and family networking. First, while parents of non-athletes viewed inclusion as a social benefit, half of parents of athletes stated that inclusion through sport and being part of the mainstream were important benefits in their own rights, providing distinct outcomes including a sense of normalcy. Second, half of the parents of athletes identified the family benefit of networking with other families. The family network developed within the sport organization provided opportunities to share their enjoyment of their children’s participation, discuss impairment concerns, and gain knowledge from others’ experiences.
Evidence for chromosome fragility at the frataxin locus in Friedreich ataxia
Daman Kumari, Bruce Hayward, Asako J. Nakamura, William M. Bonner, Karen Usdin,Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Available online 30 August 2015, ISSN 0027-5107, http://dx.doi.org/10.1016/j.mrfmmm.2015.08.007.
The region of chromosome 9 that contains the Frataxin (FXN) locus is prone to breakage and rearrangements.This chromosome fragility involves the generation of chromosome/chromatid gaps or breaks, or the high frequency loss of one or both copies of the affected gene when cells are grown under folate stress or as we showed previously, in the presence of an inhibitor of the ATM checkpoint kinase.
The region of chromosome 9 that contains the Frataxin (FXN) locus is prone to breakage and rearrangements.This chromosome fragility involves the generation of chromosome/chromatid gaps or breaks, or the high frequency loss of one or both copies of the affected gene when cells are grown under folate stress or as we showed previously, in the presence of an inhibitor of the ATM checkpoint kinase.
Sunday, August 30, 2015
Investigation of mitochondrial DNA variations among Indian Friedreich's ataxia (FRDA) patients
Inder Singh, Mohammed Faruq, Madakasira Vasantha Padma, Vinay Goyal, Madhuri Behari, Ashoo Grover, Mitali Mukerji, Achal K. Srivastava, Mitochondrion, Available online 29 August 2015, ISSN 1567-7249, http://dx.doi.org/10.1016/j.mito.2015.08.003.
Overall, our study identifies the functionally important variations and mitochondrial lineage of Indian FRDA cases and, that underscores the importance of studying the role of mitochondrial genome variations in FRDA.
Overall, our study identifies the functionally important variations and mitochondrial lineage of Indian FRDA cases and, that underscores the importance of studying the role of mitochondrial genome variations in FRDA.
Thursday, August 27, 2015
Stable isotopes and LC–MS for monitoring metabolic disturbances in Friedreich's ataxia platelets
Andrew J Worth, Sankha S Basu, Eric C Deutsch, Wei-Ting Hwang, Nathaniel W Snyder, David R Lynch, and Ian A Blair, Bioanalysis, Vol. 7, No. 15 , Pages 1843-1855 (doi: 10.4155/bio.15.118)
Platelets can be used as a surrogate tissue for in vivo biomarker studies to monitor new therapeutic approaches for the treatment of FRDA.
Platelets can be used as a surrogate tissue for in vivo biomarker studies to monitor new therapeutic approaches for the treatment of FRDA.
MDA Awards $10 million in new Research Grants
CHICAGO, Aug. 26, 2015 /PRNewswire/ -- Powered by its big-picture perspective to accelerate treatments and cures across the broad spectrum of neuromuscular diseases, MDA today announced the award of $10 million in new research grants to the world's brightest scientists conducting leading-edge discovery for muscular dystrophy, ALS and related muscle-debilitating diseases.
Among the new MDA research grants: Expanding therapeutic possibilities in Friedreich's ataxia (FA): Scientists at the University of Oklahoma Health Sciences Center will work to find the optimal HDAC inhibitor and dose for increasing production of the frataxin protein, which is deficient in FA and, in parallel, test an alternative HDAC inhibitor that may prove more effective than others tested to date.
Among the new MDA research grants: Expanding therapeutic possibilities in Friedreich's ataxia (FA): Scientists at the University of Oklahoma Health Sciences Center will work to find the optimal HDAC inhibitor and dose for increasing production of the frataxin protein, which is deficient in FA and, in parallel, test an alternative HDAC inhibitor that may prove more effective than others tested to date.
Subscribe to:
Posts (Atom)
