Shabir Ahmad Ganai. Current Drug Targets, Volume 17 DOI: 10.2174/1389450117666160527143257
Emerging evidences suggest that acetylation of non-histone proteins plays a critical role in various cellular processes including mRNA stability, protein localization and degradation. Abnormal turnover or expression of non-histone proteins like nuclear factor- kappaB (NF-кB), heat shock protein 90 (HSP90) and frataxin fuels various diseases including cancer.
Wednesday, June 8, 2016
Tuesday, June 7, 2016
Quantifying benefit-risk preferences for new medicines in rare disease patients and caregivers
T. Morel, S. Aymé, D. Cassiman, S. Simoens, M. Morgan and M. Vandebroek. Orphanet Journal of Rare Diseases 2016 DOI: 10.1186/s13023-016-0444-9
This study aimed to explore what they consider of value when choosing between hypothetical therapeutic options and to quantify both their benefit-risk preferences and the influence of disease context.
Our study data confirmed that patients and their caregivers were willing to accept greater risk or side effects associated with a new medicine, for instance, in the hope for some extra chance in drug response or greater health improvement potential. Attitudes about benefit-risk may change over time with disease progression or context of care.
In that context, we believe that patients and caregivers should be increasingly involved as active research partners in the development of clinical outcomes assessments – including patient-reported outcomes (PRO) measures – that directly evaluate how the patient feels, functions or survives. If a treatment effect is not meaningful to the patient, it is not a benefit to the patient.
Open Access
This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/)
This study aimed to explore what they consider of value when choosing between hypothetical therapeutic options and to quantify both their benefit-risk preferences and the influence of disease context.
Our study data confirmed that patients and their caregivers were willing to accept greater risk or side effects associated with a new medicine, for instance, in the hope for some extra chance in drug response or greater health improvement potential. Attitudes about benefit-risk may change over time with disease progression or context of care.
In that context, we believe that patients and caregivers should be increasingly involved as active research partners in the development of clinical outcomes assessments – including patient-reported outcomes (PRO) measures – that directly evaluate how the patient feels, functions or survives. If a treatment effect is not meaningful to the patient, it is not a benefit to the patient.
Open Access
This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/)
Monday, June 6, 2016
The hereditary ataxias: Where are we now? Four decades of local research
D C Smith, L J Greenberg, A Bryer. South African Medical Journal 2016;106(6):S38. DOI:10.7196/SAMJ.2016.v106i6.10989
The hereditary ataxias have been studied at the University of Cape Town for more than 40 years, following from initial clinical investigations by Beighton and colleagues in the early 1970s.
Thirty-seven of these individuals (from 30 families) had molecularly confirmed FRDA. To the best of our knowledge, no individuals of indigenous black African ethnic origin have been given a confirmed molecular diagnosis of FRDA. The vast majority of confirmed FRDA patients in SA are of European ancestry, along with a single family of Indian origin.
The hereditary ataxias have been studied at the University of Cape Town for more than 40 years, following from initial clinical investigations by Beighton and colleagues in the early 1970s.
Thirty-seven of these individuals (from 30 families) had molecularly confirmed FRDA. To the best of our knowledge, no individuals of indigenous black African ethnic origin have been given a confirmed molecular diagnosis of FRDA. The vast majority of confirmed FRDA patients in SA are of European ancestry, along with a single family of Indian origin.
Sunday, June 5, 2016
The significance of intercalated discs in the pathogenesis of Friedreich cardiomyopathy
Arnulf H. Koeppen, Alyssa B. Becker, Paul J. Feustel, Benjamin B. Gelman, Joseph E. Mazurkiewicz. Journal of the Neurological Sciences, Available online 4 June 2016, ISSN 0022-510X, doi: 10.1016/j.jns.2016.06.006.
Highlights
-The most frequent cause of death in Friedreich ataxia is cardiomyopathy
-Abnormal intercalated discs contribute to Friedreich cardiomyopathy
-Intercalated discs and gap junctions are normal in long-surviving patients
Highlights
-The most frequent cause of death in Friedreich ataxia is cardiomyopathy
-Abnormal intercalated discs contribute to Friedreich cardiomyopathy
-Intercalated discs and gap junctions are normal in long-surviving patients
Saturday, June 4, 2016
Aspects éthico-sociétaux liés à l’utilisation de la technique d’édition du génome CRISPR-Cas9 (FR)
INSERM (Institut National de la santé et de la recherche médicale). Comité éthique Inserm février 2016.
Saisine concernant les questions liées au développement de la technologie CRISPR (clustered regularly interspaced short palindromic repeat)-Cas9.
L’ingénierie du génome ou « Editer le génome » (traduit ainsi de l’anglais « genome editing ») consiste à ajouter, enlever, modifier une ou quelques bases dans une séquence d’ADN. Si la séquence correspond à un gène, la conséquence en sera la modification d’expression de ce gène, soit son « invalidation » (perte de fonction, knock-down), soit la modification de la séquence protéique de la protéine qu’il code et dans certains cas le changement d’activité ou de localisation ou de durée de vie ou au contraire la correction d’une fonction altérée, selon le contexte biologique.
De quoi s’agit-il ?, CRISPR-Ccas 9 est en quelque sorte un ciseau moléculaire capable d’induire une cassure double brin de l’ADN en un site choisi du génome.
Le principe de précaution peut être invoqué lorsqu’un phénomène, un produit ou un procédé peut avoir des effets potentiellement dangereux, identifiés par une évaluation scientifique et objective, si cette évaluation ne permet pas de déterminer le risque avec suffisamment de certitude.
Saisine concernant les questions liées au développement de la technologie CRISPR (clustered regularly interspaced short palindromic repeat)-Cas9.
L’ingénierie du génome ou « Editer le génome » (traduit ainsi de l’anglais « genome editing ») consiste à ajouter, enlever, modifier une ou quelques bases dans une séquence d’ADN. Si la séquence correspond à un gène, la conséquence en sera la modification d’expression de ce gène, soit son « invalidation » (perte de fonction, knock-down), soit la modification de la séquence protéique de la protéine qu’il code et dans certains cas le changement d’activité ou de localisation ou de durée de vie ou au contraire la correction d’une fonction altérée, selon le contexte biologique.
De quoi s’agit-il ?, CRISPR-Ccas 9 est en quelque sorte un ciseau moléculaire capable d’induire une cassure double brin de l’ADN en un site choisi du génome.
Le principe de précaution peut être invoqué lorsqu’un phénomène, un produit ou un procédé peut avoir des effets potentiellement dangereux, identifiés par une évaluation scientifique et objective, si cette évaluation ne permet pas de déterminer le risque avec suffisamment de certitude.
Friday, June 3, 2016
10 top patient groups oppose REGROW Act that would gut stem cell oversight
The Niche, Knoepfler lab stem cell blog. June 1, 2016.
The REGROW Act would drastically weaken FDA regulation of experimental stem cell therapies.
Patient Groups Opposing REGROW
Cystic Fibrosis Foundation
Friedreich’s Ataxia Research Alliance
Friends of Cancer Research
Global Genes
Michael J. Fox Foundation for Parkinson’s Research
Myotonic Dystrophy Foundation
National MS Society
National Organization for Rare Disorders
National Patient Advocate Foundation
Prevent Cancer Foundation
The REGROW Act would drastically weaken FDA regulation of experimental stem cell therapies.
Patient Groups Opposing REGROW
Cystic Fibrosis Foundation
Friedreich’s Ataxia Research Alliance
Friends of Cancer Research
Global Genes
Michael J. Fox Foundation for Parkinson’s Research
Myotonic Dystrophy Foundation
National MS Society
National Organization for Rare Disorders
National Patient Advocate Foundation
Prevent Cancer Foundation
Thursday, June 2, 2016
US FDA Grants Orphan Drug Designation for Retrotope's RT001 in the Treatment of Friedreich's Ataxia
LOS ALTOS, CA -- (Marketwired) -- 06/01/16 -- Retrotope announced today that the U.S. Food and Drug Administration (FDA) Office of Orphan Products Development granted orphan drug designation for its stabilized fatty acid drug (RT001) for the treatment of Friedreich's ataxia (FA).
Wednesday, June 1, 2016
Epoetin Alpha Improves Upper-Limb Dexterity in Patients With Friedreich’s Ataxia: Presented at EAN
FirstWord Pharma, By Chris Berrie.
COPENHAGEN, Denmark -- May 31, 2016 -- Epoetin alpha does not modify frataxin levels or improve physical performance in patients with the debilitating, degenerative neuromuscular disorder known as Friedreich’s ataxia, although it progressively ameliorates upper-limb dexterity compared with placebo, according to results presented at the 2nd Congress of the European Academy of Neurology (EAN).
COPENHAGEN, Denmark -- May 31, 2016 -- Epoetin alpha does not modify frataxin levels or improve physical performance in patients with the debilitating, degenerative neuromuscular disorder known as Friedreich’s ataxia, although it progressively ameliorates upper-limb dexterity compared with placebo, according to results presented at the 2nd Congress of the European Academy of Neurology (EAN).
Tuesday, May 31, 2016
Paying for future success in gene therapy
Stuart H. Orkin, Philip Reilly. Science 27 May 2016: Vol. 352, Issue 6289, pp. 1059-1061 DOI: 10.1126/science.aaf4770
OPEN
The authors expect the federal Food and Drug Administration (FDA) will approve at least one gene therapy treatment within the next three years. As a new generation of gene therapy clinical trials shows promise to cure or halt the progression of several rare diseases, the time has come to explore ways to pay for the cutting edge treatments. Noting the potential of gene therapy to be a one-time treatment for rare and serious diseases that otherwise cost hundreds of thousands, if not millions, of dollars in chronic care over a lifetime. The process of developing a new gene therapy treatment and securing FDA approval, they estimate, entails about eight years and direct costs of hundreds of millions of dollars.
OPEN
The authors expect the federal Food and Drug Administration (FDA) will approve at least one gene therapy treatment within the next three years. As a new generation of gene therapy clinical trials shows promise to cure or halt the progression of several rare diseases, the time has come to explore ways to pay for the cutting edge treatments. Noting the potential of gene therapy to be a one-time treatment for rare and serious diseases that otherwise cost hundreds of thousands, if not millions, of dollars in chronic care over a lifetime. The process of developing a new gene therapy treatment and securing FDA approval, they estimate, entails about eight years and direct costs of hundreds of millions of dollars.
Monday, May 30, 2016
Uncovering brain-heart information through advanced signal and image processing.
Philos Trans A Math Phys Eng Sci. 2016 May 13; 374(2067): 20160020. doi: 10.1098/rsta.2016.0020
A recent article in Scientific American (‘A new idea for treating Alzheimer's’)begins with the following sentence: ‘If it's good for the heart, it could also be good for the neurons, astrocytes and oligodendrocytes, cells that make up the main items on the brain's parts list’, suggesting that Alzheimer's disease may be a candidate for combined brain–heart therapeutic approaches. Furthermore, a wide variety of changes in the electrocardiogram, mainly referring to arrhythmias and repolarization, is often observed in the context of neurological disease.
A significant part of the current knowledge on brain–heart interaction as applied to the medical field refers to ‘neurocardiology’. While this discipline is inherently multidimensional, it may be conceptualized as divided into three major categories: the heart's effects on the brain (e.g. cardiac source embolic stroke), the brain's effects on the heart (e.g. neurogenic heart disease) and neurocardiac syndromes (e.g. Friedreich's ataxia).
Open Access
This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/)
A recent article in Scientific American (‘A new idea for treating Alzheimer's’)begins with the following sentence: ‘If it's good for the heart, it could also be good for the neurons, astrocytes and oligodendrocytes, cells that make up the main items on the brain's parts list’, suggesting that Alzheimer's disease may be a candidate for combined brain–heart therapeutic approaches. Furthermore, a wide variety of changes in the electrocardiogram, mainly referring to arrhythmias and repolarization, is often observed in the context of neurological disease.
A significant part of the current knowledge on brain–heart interaction as applied to the medical field refers to ‘neurocardiology’. While this discipline is inherently multidimensional, it may be conceptualized as divided into three major categories: the heart's effects on the brain (e.g. cardiac source embolic stroke), the brain's effects on the heart (e.g. neurogenic heart disease) and neurocardiac syndromes (e.g. Friedreich's ataxia).
Open Access
This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/)
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