Program and Abstracts for the SIMD Annual Meeting. Society for Inherited Metabolic Disorders 37th Annual Meeting; Saturday, March 9–March 12, 2014, Asilomar Conference Center, Pacific Grove, CA
65) NEWBORN SCREENING FOR LYSOSOMAL STORAGE DISORDERS, FRIEDREICH ATAXIA,WILSON DISEASE AND X-ADRENOLEUKODYSTROPHY. A COMPARATIVE EFFECTIVENESS STUDY.
Matern D, Raymond K, Isaya G, Tortorelli S, Gavrilov D, Hopwood J, Lorey F, Rinaldo P, Oglesbee D.
By October 2013, all 100,000 samples had undergone 1st and 2nd tier testing. Molecular genetic confirmation of presumptive positive cases is ongoing and will allow complete assessment of each assay's performance by February 2014.
66) THE (SURPRISING) PREVALENCE OF 12 LYSOSOMAL STORAGE DISORDERS, FRIEDREICH ATAXIA, WILSON DISEASE AND X-ADRENOLEUKODYSTROPHY IN CALIFORNIA
Dietrich Matern, Silvia Tortorelli, Dimitar Gavrilov, Kimiyo Raymond, Hao Tang, Fred Lorey, Piero Rinaldo, Devin Oglesbee.
Abnormal results were encountered by the primary screen, but 2nd tier testing and/or molecular genetic testing did not confirm a true positive case. Not a single false positive for Friedreich Ataxia was encountered; in fact, the 2nd tier test for frataxin was always normal while testing of known affected patients yielded abnormal results.
Sunday, February 9, 2014
Wednesday, February 5, 2014
The Friedreich's Ataxia Research Alliance Announces That the FDA has Granted Orphan Drug Status for Research of Untreatable Rare Disease, Friedreich's Ataxia
The Friedreich's Ataxia Research Alliance Announces That the FDA has Granted Orphan Drug Status for Research of Untreatable Rare Disease, Friedreich's Ataxia
"This is an important step forward in moving EPI-743 towards approval for the treatment of Friedreich's ataxia."
Downingtown, PA (PRWEB) February 04, 2014: Edison Pharmaceuticals today announced that the U.S. Food and Drug Administration (FDA) has granted orphan drug status to vatiquinone (EPI-743) for the treatment of Friedreich’s ataxia
FDA Grants Edison Pharmaceuticals' EPI-743 Orphan Status for Friedreich's Ataxia.
MOUNTAIN VIEW, Calif., Feb. 4, 2014 /PRNewswire/
"This is an important step forward in moving EPI-743 towards approval for the treatment of Friedreich's ataxia."
Downingtown, PA (PRWEB) February 04, 2014: Edison Pharmaceuticals today announced that the U.S. Food and Drug Administration (FDA) has granted orphan drug status to vatiquinone (EPI-743) for the treatment of Friedreich’s ataxia
FDA Grants Edison Pharmaceuticals' EPI-743 Orphan Status for Friedreich's Ataxia.
MOUNTAIN VIEW, Calif., Feb. 4, 2014 /PRNewswire/
Sunday, February 2, 2014
Fellowship: NMR screening to select compounds that interact with human frataxin
NMR screening to select compounds that interact with human frataxin.
Job details; type Fellowship, Università degli Studi di Roma Tor Vergata, Italy. Expires: February 06, 2014
Job details; type Fellowship, Università degli Studi di Roma Tor Vergata, Italy. Expires: February 06, 2014
Graduate student seminar: “Frataxin Stimulates Fe/S Cluster Biosynthesis.”
“Frataxin Stimulates Fe/S Cluster Biosynthesis.”
February 13 @ 12:45 pm - 1:45 pm
Yu Wang will present her PhD research seminar entitled, “Frataxin Stimulates Fe/S Cluster Biosynthesis.”
February 13 @ 12:45 pm - 1:45 pm
Yu Wang will present her PhD research seminar entitled, “Frataxin Stimulates Fe/S Cluster Biosynthesis.”
Sex differences in mitochondrial biogenesis determine neuronal death and survival in response to oxygen glucose deprivation and reoxygenation
Sex differences in mitochondrial biogenesis determine neuronal death and survival in response to oxygen glucose deprivation and reoxygenation; Jaswinder Sharma, Michael V Johnston and Mir Ahamed Hossain; BMC Neuroscience 2014, 15:9 doi:10.1186/1471-2202-15-9
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OPEN ACCESS
Spongionella Secondary Metabolites Protect Mitochondrial Function in Cortical Neurons against Oxidative Stress
Spongionella Secondary Metabolites Protect Mitochondrial Function in Cortical Neurons against Oxidative Stress.Leirós M, Sánchez JA, Alonso E, Rateb ME, Houssen WE, Ebel R, Jaspars M, Alfonso A, Botana LM.; Mar Drugs. 2014 Jan 27;12(2):700-18. doi: 10.3390/md12020700.
Oxidative stress is linked to mitochondrial dysfunction and consequently to neurodegenerative disorders like Parkinson and Alzheimer diseases, Friedreich ataxia or Amyotrophic lateral sclerosis. This neuroprotection against oxidation conditions suggest that these metabolites could be interesting lead candidates in drug development for neurodegenerative diseases.
FULL TEXT
Oxidative stress is linked to mitochondrial dysfunction and consequently to neurodegenerative disorders like Parkinson and Alzheimer diseases, Friedreich ataxia or Amyotrophic lateral sclerosis. This neuroprotection against oxidation conditions suggest that these metabolites could be interesting lead candidates in drug development for neurodegenerative diseases.
FULL TEXT
Mitochondrial ferritin in the regulation of brain iron homeostasis and neurodegenerative diseases
Mitochondrial ferritin in the regulation of brain iron homeostasis and neurodegenerative diseases. Gao G and Chang Y (2014).Front. Pharmacol. 5:19. doi: 10.3389/fphar.2014.00019
FULL TEXT
FULL TEXT
Stem cells therapy for regenerative medicine: Principles of present and future practice
Stem cells therapy for regenerative medicine: Principles of present and future practice. Andrades, J. , Becerra, J. , Muñoz-Chápuli, R. , Martínez, S. , Raya, Á. , García-Sancho, J. and Moraleda, J. (2014); Journal of Biomedical Science and Engineering, 7, 49-57. doi: 10.4236/jbise.2014.72008.
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The use of stem cells as a therapeutic tool for a number of ischemic, inflam-matory, autoimmune, metabolic and degenerative dis-eases represents one of the more promising areas of bio-medical research; however, after more than 15 years of an exponential increase in basic knowledge, the promise to translate all those findings to clinical practice has not been achieved. There is only one cell therapy product that has obtained market authorization in the EU, and despite several hundred of phase I-II clinical trials there is almost a complete lack of robust efficacy data from phase III trials.
Salvador Martinez’s group (University of Alicante) has analyze the effect that bone marrow and adipose mesenchymal stem cells (MSCs) grafts exert in a chronic demyelination and Friedrich ataxia mice models. As a result, oligodendrocyte progenitors were detected sur- rounding the graft in experimental demyelinating brain models, as well as increasing of dorsal root ganglia cells survival in vitro Friedrich ataxia cellular and animal models. This potential therapeutic effect was due to a selective production of trophic factors by the MSCs.
OPEN ACCESS
The use of stem cells as a therapeutic tool for a number of ischemic, inflam-matory, autoimmune, metabolic and degenerative dis-eases represents one of the more promising areas of bio-medical research; however, after more than 15 years of an exponential increase in basic knowledge, the promise to translate all those findings to clinical practice has not been achieved. There is only one cell therapy product that has obtained market authorization in the EU, and despite several hundred of phase I-II clinical trials there is almost a complete lack of robust efficacy data from phase III trials.
Salvador Martinez’s group (University of Alicante) has analyze the effect that bone marrow and adipose mesenchymal stem cells (MSCs) grafts exert in a chronic demyelination and Friedrich ataxia mice models. As a result, oligodendrocyte progenitors were detected sur- rounding the graft in experimental demyelinating brain models, as well as increasing of dorsal root ganglia cells survival in vitro Friedrich ataxia cellular and animal models. This potential therapeutic effect was due to a selective production of trophic factors by the MSCs.
Tuesday, January 28, 2014
Aliança internacional d’afectats per l’atàxia de Friedreich per finançar el projecte de teràpia gènica desenvolupat a Espanya
Aliança internacional d’afectats per l’atàxia de Friedreich per finançar el projecte de teràpia gènica desenvolupat a Espanya.
Científics de l’Institut de Recerca Biomèdica (IRB) i el Centre de Biologia Molecular Severo Ochoa (CBMSO) van iniciar el projecte dos mesos enrere.
El projecte és fruit de la iniciativa d’afectats espanyols units en la plataforma Genefa en col·laboració amb la Federació d’Atàxies d’Espanya i BabelFAmily. Ara, s’hi suma The Friedreich's Ataxia Research Alliance (FARA), una de les principals organitzacions de pacients dels Estats Units.
L’aportació de FARA suposa el 50% del pressupost total de 300.000€ del projecte. Els fons de FARA provenen del suport de les famílies dels pacients i comunitats afins dels EUA, i d'altres agents internacionals com FARA-Irlanda.
FARA (Friedreich's Ataxia Research Aliance) Press Release
Notícies IRB Barcelona
Científics de l’Institut de Recerca Biomèdica (IRB) i el Centre de Biologia Molecular Severo Ochoa (CBMSO) van iniciar el projecte dos mesos enrere.
El projecte és fruit de la iniciativa d’afectats espanyols units en la plataforma Genefa en col·laboració amb la Federació d’Atàxies d’Espanya i BabelFAmily. Ara, s’hi suma The Friedreich's Ataxia Research Alliance (FARA), una de les principals organitzacions de pacients dels Estats Units.
L’aportació de FARA suposa el 50% del pressupost total de 300.000€ del projecte. Els fons de FARA provenen del suport de les famílies dels pacients i comunitats afins dels EUA, i d'altres agents internacionals com FARA-Irlanda.
FARA (Friedreich's Ataxia Research Aliance) Press Release
Notícies IRB Barcelona
Alianza internacional de afectados por la ataxia de Friedreich para financiar el proyecto de terapia génica desarrollado en España
Alianza internacional de afectados por la ataxia de Friedreich para financiar el proyecto de terapia génica desarrollado en España 28 de Enero 2014.
Científicos del Instituto de Investigación Biomédica (IRB) y el Centro de Biología Molecular Severo Ochoa (CBMSO) iniciaron el proyecto dos meses atrás.
El proyecto es fruto de la iniciativa de afectados españoles unidos en la plataforma Genefa en colaboración con la Federación de Ataxias de España y BabelFAmily. Ahora, se suma The Friedreich's Ataxia Research Alliance (FARA), una de las principales organizaciones de pacientes de los Estados Unidos.
La aportación de FARA supone el 50% del presupuesto total de 300.000€ del proyecto. Los fondos de FARA provienen del apoyo de las familias de los pacientes y comunidades afines de los EEUU y otros agentes internacionales como FARA-Irlanda.
FARA (Friedreich's Ataxia Research Aliance) Press release
Noticias IRB Barcelona
Científicos del Instituto de Investigación Biomédica (IRB) y el Centro de Biología Molecular Severo Ochoa (CBMSO) iniciaron el proyecto dos meses atrás.
El proyecto es fruto de la iniciativa de afectados españoles unidos en la plataforma Genefa en colaboración con la Federación de Ataxias de España y BabelFAmily. Ahora, se suma The Friedreich's Ataxia Research Alliance (FARA), una de las principales organizaciones de pacientes de los Estados Unidos.
La aportación de FARA supone el 50% del presupuesto total de 300.000€ del proyecto. Los fondos de FARA provienen del apoyo de las familias de los pacientes y comunidades afines de los EEUU y otros agentes internacionales como FARA-Irlanda.
FARA (Friedreich's Ataxia Research Aliance) Press release
Noticias IRB Barcelona
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