Les médicaments orphelins : des opportunités méconnues pour les développeurs en Europe. Orphan Drugs: Underrated Opportunities for The Developers in Europe. Yves Tillet et Anne-Catherine Maillols-Perroy; Thérapie 2015 Juillet-Août; 70 (4): 351–357
Key words: Orphan Drug Act / regulation 141/2000/EC / implementing regulation 847/2000 / Commission communication (2003/C 178/02) / orphan medical product / 10 year market exclusivity / similar medicinal product / significant benefit / clinical superiority / assumption of significant benefit
Tuesday, July 28, 2015
Sunday, July 26, 2015
Mitigation of Myocardial Ischemia-Reperfusion Injury via HIF-1α-Frataxin Signalling.
Mitigation of Myocardial Ischemia-Reperfusion Injury via HIF-1α-Frataxin Signalling. Nelson Amaral, Darlington Okonko; American Journal of Physiology - Heart and Circulatory Physiology Published 25 July 2015 Vol. no. , DOI: 10.1152/ajpheart.00553.2015
Resources, challenges and way forward in rare mitochondrial diseases research.
Resources, challenges and way forward in rare mitochondrial diseases research. Rajput NK, Singh V and Bhardwaj A. [v1; ref status: indexed, http://f1000r.es/54x] F1000Research 2015, 4:70 (doi: 10.12688/f1000research.6208.1) OPEN ACCESS
Rare diseases affect over 300 million people globally, however the true burden of these diseases on human health remains to be determined. Rare genetic variants are disease causing and lead to a personalized disease manifestation. Thus, it is time to review the disease definition considering both the molecular mechanisms involved and environmental factors leading to differential phenotypes. This will allow for a better understanding of both rare and common diseases. On the other end, a paradigm shift in drug discovery and development is also needed to translate the effort in understanding disease mechanisms to identify potential therapeutic routes. Newer models and platforms that allow involvement of patient communities in research and development is also expected to offer solutions to patients suffering from rare diseases who may then benefit from appropriate treatment options. Community collaborative approaches for research and funding offer an unprecedented opportunity for making new discoveries and translating to therapeutic interventions.
Rare diseases affect over 300 million people globally, however the true burden of these diseases on human health remains to be determined. Rare genetic variants are disease causing and lead to a personalized disease manifestation. Thus, it is time to review the disease definition considering both the molecular mechanisms involved and environmental factors leading to differential phenotypes. This will allow for a better understanding of both rare and common diseases. On the other end, a paradigm shift in drug discovery and development is also needed to translate the effort in understanding disease mechanisms to identify potential therapeutic routes. Newer models and platforms that allow involvement of patient communities in research and development is also expected to offer solutions to patients suffering from rare diseases who may then benefit from appropriate treatment options. Community collaborative approaches for research and funding offer an unprecedented opportunity for making new discoveries and translating to therapeutic interventions.
Thursday, July 23, 2015
L'atàxia de Friedreich: estudi del dèficit de frataxina en miòcits cardíacs
Friedreich's ataxia: a study of frataxin deficiency in cardiac myocytes. Author: Èlia Obis Monné, Director: Jordi Tamarit Sumalla, Joaquim Ros Salvador; Thesis, date of defense:2014-12-10, Universitat de Lleida. Departament de Ciències Mèdiques Bàsiques. Tesis Doctorals en Xarxa (Universitat de Lleida)
Full text files in this thesis will be available from 2015-12-10
Frataxin deficiency in cardiac myocytes causes an alteration of the mitochondrial network and oxidative stress. Furthermore, cardiac myocytes undergo a change in the metabolic profile and accumulate large amounts of fatty acids in lipid droplets.
More information.....
Full text files in this thesis will be available from 2015-12-10
Frataxin deficiency in cardiac myocytes causes an alteration of the mitochondrial network and oxidative stress. Furthermore, cardiac myocytes undergo a change in the metabolic profile and accumulate large amounts of fatty acids in lipid droplets.
More information.....
RNA-based drugs, very promising research (RaNA Therapeutics)
RNA-based drugs, very promising research (RaNA Therapeutics). EXOME News, Ben Fidler July 23rd, 2015 and The Boston Globe (Bussines) Globe Correspondent
RaNA Therapeutics, a Cambridge-based drug startup, announced today will help fund the preclinical work needed to get at least two programs into human trials in 2017. So far the company has touted potential therapies for spinal muscular atrophy and Friedreich’s Ataxia. These therapies are RNA-based drugs meant to switch back on genes that are silenced in certain diseases, and thus don’t produce critical proteins (like spinal motor neuron in the case of people with SMA, and frataxin for those with Friedreich’s). (EXOME)
The company said Thursday that it raised the funds from a group of new and existing investors led by MRL Ventures, an arm of the drug giant Merck, and the Baupost Group. RaNA plans to have one or two treatments for spinal muscular atrophy and Friedreich’s ataxia in clinical trials by 2017. (The Boston Globe)
Read more...
RaNA Therapeutics, a Cambridge-based drug startup, announced today will help fund the preclinical work needed to get at least two programs into human trials in 2017. So far the company has touted potential therapies for spinal muscular atrophy and Friedreich’s Ataxia. These therapies are RNA-based drugs meant to switch back on genes that are silenced in certain diseases, and thus don’t produce critical proteins (like spinal motor neuron in the case of people with SMA, and frataxin for those with Friedreich’s). (EXOME)
The company said Thursday that it raised the funds from a group of new and existing investors led by MRL Ventures, an arm of the drug giant Merck, and the Baupost Group. RaNA plans to have one or two treatments for spinal muscular atrophy and Friedreich’s ataxia in clinical trials by 2017. (The Boston Globe)
Read more...
Wednesday, July 22, 2015
A study of up to 12 years of follow-up of Friedreich ataxia utilising four measurement tools
A study of up to 12 years of follow-up of Friedreich ataxia utilising four measurement tools. Geneieve Tai, Louise A Corben, Lyle Gurrin, Eppie M Yiu1, Andrew Churchyard, Michael Fahey, Brian Hoare, Sharon Downie, Martin B Delatycki;
J Neurol Neurosurg Psychiatry 2015;86:660-666 doi:10.1136/jnnp-2014-308022
Individuals with larger GAA1 repeat sizes and earlier ages of disease onset were shown to deteriorate at a faster rate and were associated with greater FARS and ICARS scores and lower FIM and MBI scores, which are indicative of greater disease severity.
J Neurol Neurosurg Psychiatry 2015;86:660-666 doi:10.1136/jnnp-2014-308022
Individuals with larger GAA1 repeat sizes and earlier ages of disease onset were shown to deteriorate at a faster rate and were associated with greater FARS and ICARS scores and lower FIM and MBI scores, which are indicative of greater disease severity.
Tuesday, July 21, 2015
Haptic wearables as sensory replacement, sensory augmentation and trainer – a review
Haptic wearables as sensory replacement, sensory augmentation and trainer – a review. Peter B. Shull and Dana D. Damian; Journal of NeuroEngineering and Rehabilitation 2015, 12:59 doi:10.1186/s12984-015-0055-z
OPEN ACCESS
Sensory impairments decrease quality of life and can slow or hinder rehabilitation. Small, computationally powerful electronics have enabled the recent development of wearable systems aimed to improve function for individuals with sensory impairments. The purpose of this review is to synthesize current haptic wearable research for clinical applications involving sensory impairments. This review found that wearable haptic devices improved function for a variety of clinical applications including: rehabilitation, prosthetics, vestibular loss, osteoarthritis, vision loss and hearing loss
OPEN ACCESS
Sensory impairments decrease quality of life and can slow or hinder rehabilitation. Small, computationally powerful electronics have enabled the recent development of wearable systems aimed to improve function for individuals with sensory impairments. The purpose of this review is to synthesize current haptic wearable research for clinical applications involving sensory impairments. This review found that wearable haptic devices improved function for a variety of clinical applications including: rehabilitation, prosthetics, vestibular loss, osteoarthritis, vision loss and hearing loss
Monday, July 20, 2015
Specialized Cortex Glial Cells Accumulate Lipid Droplets in Drosophila melanogaster.
Specialized Cortex Glial Cells Accumulate Lipid Droplets in Drosophila melanogaster. Viktor Kis,* Benjámin Barti, Mónika Lippai, and Miklós Sass; PLoS One. 2015; 10(7): e0131250.
Published online 2015 July 6. doi: 10.1371/journal.pone.0131250 OPEN ACCESS
While a large portion of the Drosophila neurodegeneration mutants (bubblegum, swiss cheese, loechrig, ApoD, frataxin, sicily) [19–23] affect lipid metabolism and disturb LD homeostasis, neither the cellular, nor the spatio-temporal distribution of LDs has been described to date in Drosophila. In this paper, we used the brain of the fruitfly to study lipid droplet anatomy in the larval nervous system.
Published online 2015 July 6. doi: 10.1371/journal.pone.0131250 OPEN ACCESS
While a large portion of the Drosophila neurodegeneration mutants (bubblegum, swiss cheese, loechrig, ApoD, frataxin, sicily) [19–23] affect lipid metabolism and disturb LD homeostasis, neither the cellular, nor the spatio-temporal distribution of LDs has been described to date in Drosophila. In this paper, we used the brain of the fruitfly to study lipid droplet anatomy in the larval nervous system.
Saturday, July 18, 2015
Oxidative Stress and the Homeodynamics of Iron Metabolism
Oxidative Stress and the Homeodynamics of Iron Metabolism. Nikolaus Bresgen and Peter M. Eckl; Biomolecules 2015, 5(2), 808-847; doi:10.3390/biom5020808
In conclusion, cellular iron homeodynamics is based on a well-orchestrated interaction of iron uptake, intracellular transport, iron storage, usage and export, which is embedded in cellular metabolic and surveillance control. Under stress conditions, this orchestration changes in order to maintain homeodynamics and protect the cell from severe destabilization.
In conclusion, cellular iron homeodynamics is based on a well-orchestrated interaction of iron uptake, intracellular transport, iron storage, usage and export, which is embedded in cellular metabolic and surveillance control. Under stress conditions, this orchestration changes in order to maintain homeodynamics and protect the cell from severe destabilization.
Thursday, July 16, 2015
Gene Expression Profile in Peripheral Blood Cells of Friedreich Ataxia Patients
Gene Expression Profile in Peripheral Blood Cells of Friedreich Ataxia Patients. Agessandro Abrahao, Jose Luiz Pedroso, Patricia de Carvalho Aguiar and Orlando Barsottini; Neurology April 6, 2015 vol. 84 no. 14 Supplement P2.122
We found a robust downregulation of FXN, but no statistically significant differences were found between FRDA and controls for the remaining genes. Except for FXN, our study did not find a differential gene expression profile in PBCs of FRDA patients and a reliable gene expression profile biomarker obtained from an easily accessible tissue remains unclear.
We found a robust downregulation of FXN, but no statistically significant differences were found between FRDA and controls for the remaining genes. Except for FXN, our study did not find a differential gene expression profile in PBCs of FRDA patients and a reliable gene expression profile biomarker obtained from an easily accessible tissue remains unclear.
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