Chul-Yong Park, Jin Jea Sung, Sang-Hwi Choi, Dongjin R Lee, In-Hyun Park & Dong-Wook Kim; Nature Protocols 11, 2154–2169 (2016) doi:10.1038/nprot.2016.129 Published online 06 October 2016
This protocol enables the correction of large inverted segments and short nucleotide repeat expansions in diseases such as hemophilia A, fragile X syndrome, Hunter syndrome, and Friedreich's ataxia.
Monday, October 10, 2016
Sunday, October 9, 2016
The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service
Gareth Baynam, Nicholas Pachter, Fiona McKenzie, Sharon Townshend, Jennie Slee, Cathy Kiraly-Borri, Anand Vasudevan, Anne Hawkins, Stephanie Broley, Lyn Schofield, Hedwig Verhoef, Caroline E. Walker, Caron Molster, Jenefer M. Blackwell, Sarra Jamieson, Dave Tang, Timo Lassmann, Kym Mina, John Beilby, Mark Davis, Nigel Laing, Lesley Murphy, Tarun Weeramanthri, Hugh Dawkins and Jack Goldblatt. Orphanet Journal of Rare Diseases 201611:77 DOI: 10.1186/s13023-016-0462-7
OPEN ACCESS
This article is distributed under the terms of the Creative Commons Attribution 4.0 International License
We describe an iteratively improving diagnostic platform provided within a public health service that is aligned to the unmet needs of people living with rare and undiagnosed diseases, by supporting equitable state-wide diagnostic health care provision for the world’s geographically largest public health jurisdiction. It is largely been performed within existing budgets through a patient-centric approach and clinically informed re-alignment of existing resources.
OPEN ACCESS
This article is distributed under the terms of the Creative Commons Attribution 4.0 International License
We describe an iteratively improving diagnostic platform provided within a public health service that is aligned to the unmet needs of people living with rare and undiagnosed diseases, by supporting equitable state-wide diagnostic health care provision for the world’s geographically largest public health jurisdiction. It is largely been performed within existing budgets through a patient-centric approach and clinically informed re-alignment of existing resources.
Friday, October 7, 2016
Systematic review on the evaluation criteria of orphan medicines in Central and Eastern European countries
Tamás Zelei, Mária J. Molnár, Márta Szegedi and Zoltán Kaló. Orphanet Journal of Rare Diseases 201611:72 DOI:10.1186/s13023-016-0455-6 Published: 4 June 2016
Open Access.
Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/)
Open Access.
Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/)
Thursday, October 6, 2016
NRF2 in neurodegenerative diseases
Antonio Cuadrado, Current Opinion in Toxicology, Available online 3 October 2016, ISSN 2468-2020, doi:10.1016/j.cotox.2016.09.004.
Neurodegenerative diseases, and degenerative disorders as a whole, share in common the deviation from homeostatic responses related to the control of proteostasis and low-grade chronic oxidative, inflammatory, and metabolic stress. These are all crucial events where transcription factor Nuclear factor (erythroid-derived 2)-like 2 (NRF2) plays a very important defensive role. In this paper, biochemical and genetic evidence connecting NRF2 with neurodegenerative diseases will be discussed, mainly in the context of preclinical mouse models and in patients with Alzheimer’s and Parkinson’s disease. NRF2 can be targeted pharmacologically and the most successful drugs to endorse a neuroprotective therapy will be commented, including dimethyl fumarate.
Neurodegenerative diseases, and degenerative disorders as a whole, share in common the deviation from homeostatic responses related to the control of proteostasis and low-grade chronic oxidative, inflammatory, and metabolic stress. These are all crucial events where transcription factor Nuclear factor (erythroid-derived 2)-like 2 (NRF2) plays a very important defensive role. In this paper, biochemical and genetic evidence connecting NRF2 with neurodegenerative diseases will be discussed, mainly in the context of preclinical mouse models and in patients with Alzheimer’s and Parkinson’s disease. NRF2 can be targeted pharmacologically and the most successful drugs to endorse a neuroprotective therapy will be commented, including dimethyl fumarate.
Wednesday, October 5, 2016
Mitochondrial Lon Protease in Human Disease and Aging: Including an etiologic classification of Lon-related diseases and disorders
Daniela A. Bota, Kelvin J.A. Davies, Free Radical Biology and Medicine, Available online 5 July 2016, ISSN 0891-5849, doi:10.1016/j.freeradbiomed.2016.06.031.
Friedreich ataxia (FRDA)show a clear progressive increase in Lon protein levels. Lon upregulation is also accompanied by an increase in proteolytic activity, and by decreased levels of mitochondrial Fe–S proteins. The effect of Lon upregulation on loss of mitochondrial Fe-S proteins during the progression of the disease suggests that Fe-S proteins may be targets of Lon in FRDA.
Friedreich ataxia (FRDA)show a clear progressive increase in Lon protein levels. Lon upregulation is also accompanied by an increase in proteolytic activity, and by decreased levels of mitochondrial Fe–S proteins. The effect of Lon upregulation on loss of mitochondrial Fe-S proteins during the progression of the disease suggests that Fe-S proteins may be targets of Lon in FRDA.
Monday, October 3, 2016
A neurodegenerative perspective on mitochondrial optic neuropathies
Patrick Yu-Wai-Man , Marcela Votruba, Florence Burté, Chiara La Morgia, Piero Barboni, Valerio Carelli; Review: Acta Neuropathologica pp 1-18 First online: 30 September 2016 doi:10.1007/s00401-016-1625-2
Open Access
Friedreich Ataxia (FRDA) is the most common form of hereditary ataxia and it is due to recessive mutations in the FXN gene, which encodes for a mitochondrial protein involved in the biosynthetic pathways of iron-sulphur clusters. The latter are essential components of aconitase and the mitochondrial respiratory chain complexes I, II and III, and their combined dysfunction probably contributes to the development of optic neuropathy, which is now a well-recognised feature of FRDA.
Open Access
Friedreich Ataxia (FRDA) is the most common form of hereditary ataxia and it is due to recessive mutations in the FXN gene, which encodes for a mitochondrial protein involved in the biosynthetic pathways of iron-sulphur clusters. The latter are essential components of aconitase and the mitochondrial respiratory chain complexes I, II and III, and their combined dysfunction probably contributes to the development of optic neuropathy, which is now a well-recognised feature of FRDA.
Sunday, October 2, 2016
Use of CRISPR/Cas9 system to correct mutations responsible for Duchenne Muscular Dystrophy and Friedreich ataxia.
(1888PressRelease) October 01, 2016 - MarketsandMarkets Conferences. Dr. Jacques P. Tremblay from University of Laval, Quebec joins the speaker panel for the 2nd Annual Genome Editing & Engineering Conference
Dr. Tremblay will be presenting at the conference on use of CRISPR/Cas9 system to correct mutations responsible for Duchenne Muscular Dystrophy and Friedreich ataxia. Joining Dr. Tremblay on the panel will be experts representing organizations such as University of Utah School of Medicine, Massachusetts Institute of Technology, J. Craig Venter Institute, University of Nebraska Medical Center, University of California, University of Washington, University of Southern California, University of Rochester, National Institutes of Health, University of Texas, University of Minnesota, Hiroshima University and Wellcome Trust Sanger Institute.
Dr. Tremblay will be presenting at the conference on use of CRISPR/Cas9 system to correct mutations responsible for Duchenne Muscular Dystrophy and Friedreich ataxia. Joining Dr. Tremblay on the panel will be experts representing organizations such as University of Utah School of Medicine, Massachusetts Institute of Technology, J. Craig Venter Institute, University of Nebraska Medical Center, University of California, University of Washington, University of Southern California, University of Rochester, National Institutes of Health, University of Texas, University of Minnesota, Hiroshima University and Wellcome Trust Sanger Institute.
Late-Onset Friedreich’s Ataxia (LOFA) Mimicking Charcot–Marie–Tooth Disease Type 2: What Is Similar and What Is Different?
Rubens Paulo A. Salomão, Maria Thereza Drumond Gama, Flávio Moura Rezende Filho, Fernanda Maggi, José Luiz Pedroso , Orlando G. P. Barsottini; Short Report, The Cerebellum pp 1-3 First online: 29 September 2016 doi:10.1007/s12311-016-0822-9
Herein, we report a patient that presented with late-onset progressive steppage gait, neuropathy and pes cavus, suggesting Charcot–Marie–Tooth (CMT) disease. Subsequent genetic investigation confirmed Friedreich’s ataxia (FRDA). We suggest that late-onset forms of hereditary neuropathies should be carefully evaluated, since LOFA may be a CMT mimicker.
Herein, we report a patient that presented with late-onset progressive steppage gait, neuropathy and pes cavus, suggesting Charcot–Marie–Tooth (CMT) disease. Subsequent genetic investigation confirmed Friedreich’s ataxia (FRDA). We suggest that late-onset forms of hereditary neuropathies should be carefully evaluated, since LOFA may be a CMT mimicker.
Friday, September 30, 2016
Congenital and Hereditary Diseases of the Spinal Cord, Seminars in Ultrasound, CT and MRI
Lily L. Wang, Karin S. Bierbrauer, Available online 14 July 2016, ISSN 0887-2171, doi:10.1053/j.sult.2016.07.002.
Friedreich’s ataxia is a hereditary autosomal recessive movement disorder usually beginning in childhood and progresses with age. The cerebellum and the spinal cord are involved. The autonomic system can be involved as the disease progresses. Cardiac disease, diabetes, scoliosis are common associations. Genetic testing offers a conclusive diagnosis in patients with a compatible history and clinical examination. Imaging in Friedreich’s ataxia has been mostly focused in the brain. Spinal findings are non-specific on conventional MRI with cervical cord atrophy.
Friedreich’s ataxia is a hereditary autosomal recessive movement disorder usually beginning in childhood and progresses with age. The cerebellum and the spinal cord are involved. The autonomic system can be involved as the disease progresses. Cardiac disease, diabetes, scoliosis are common associations. Genetic testing offers a conclusive diagnosis in patients with a compatible history and clinical examination. Imaging in Friedreich’s ataxia has been mostly focused in the brain. Spinal findings are non-specific on conventional MRI with cervical cord atrophy.
Thursday, September 29, 2016
A longitudinal study of the SF-36 version 2 in Friedreich ataxia
G. Tai, L. A. Corben, E. M. Yiu and M. B. Delatycki; Acta Neurologica Scandinavica, Version of Record online: 28 SEP 2016 DOI: 10.1111/ane.12693
This study aimed to examine the relationship between SF-36 version 2 (SF-36V2) summary scores and Friedreich ataxia (FRDA) clinical characteristics, and to investigate the responsiveness of the scale, in comparison with the Friedreich Ataxia Rating Scale (FARS), over 1, 2 and 3 years.
Our findings suggest that despite physical decline, individuals with FRDA have relatively stable mental well-being. This study demonstrates that the SF-36V2 is unlikely to be a useful tool for identifying clinical change in FRDA therapeutic trials.
This study aimed to examine the relationship between SF-36 version 2 (SF-36V2) summary scores and Friedreich ataxia (FRDA) clinical characteristics, and to investigate the responsiveness of the scale, in comparison with the Friedreich Ataxia Rating Scale (FARS), over 1, 2 and 3 years.
Our findings suggest that despite physical decline, individuals with FRDA have relatively stable mental well-being. This study demonstrates that the SF-36V2 is unlikely to be a useful tool for identifying clinical change in FRDA therapeutic trials.
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