Exclusive: 'Jaw-dropping' breakthrough hailed as landmark in fight against hereditary diseases as Crispr technique heralds genetic revolution

Exclusive: 'Jaw-dropping' breakthrough hailed as landmark in fight against hereditary diseases as Crispr technique heralds genetic revolution . THE INDEPENDENT (UK), Steve Connor, Thursday 07 November 2013.


"Is exciting to follow the progress of biotechnological sciences, everyday are opening new doors that can lead to an effective therapy in the not too distant future."

Submitted by John Spencer

Ataxia: Physical Therapy and Rehabilitation Applications for Ataxic Patients

Ataxia: Physical Therapy and Rehabilitation Applications for Ataxic Patients. Armutlu K. 2013; JH Stone, M Blouin, editors. International Encyclopedia of Rehabilitation. Available online

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Edison Pharmaceuticals, FARA, and USF Announce Initiation of EPI-743 Phase 2 Friedreich's Ataxia Clinical Trial in Adults with Point Mutations

Edison Pharmaceuticals, FARA, and USF Announce Initiation of EPI-743 Phase 2 Friedreich's Ataxia Clinical Trial in Adults with Point Mutations.MOUNTAIN VIEW, Calif. and DOWNINGTOWN, Pa. and TAMPA, Fla., Nov. 4, 2013 /PRNewswire

Edison Pharmaceuticals, the Friedreich's Ataxia Research Alliance (FARA) and the University of South Florida (USF) today announced the initiation of a phase 2 study entitled, "Phase 2A Clinical Trial of EPI-743 on Visual Function in Friedreich's Ataxia Patients with Point Mutations."

Related content: EPI-743 in Friedreich's Ataxia Point Mutations, Thursday, October 17, 2013

4-(p-QUINONYL)-2-HYDROXYBUTANAMIDE DERIVATIVES FOR TREATMENT OF MITOCHONDRIAL DISEASES

4-(p-QUINONYL)-2-HYDROXYBUTANAMIDE DERIVATIVES FOR TREATMENT OF MITOCHONDRIAL DISEASES. Patent, EDISON PHARMACEUTICALS INC [US

Methods of treating or suppressing mitochondrial diseases, such as Friedreich's ataxia (FRDA), Leber's Hereditary Optic Neuropathy (LHON), mitochondrial myopathy, encephalopathy, lactacidosis, and stroke (MELAS), Kearns-Sayre Syndrome (KSS)....

Project: Investigating the neuroprotective and neuroregenerative properties of bone marrow stem cell mobilising drugs in Friedreich ataxia.

Project: Investigating the neuroprotective and neuroregenerative properties of bone marrow stem cell mobilising drugs in Friedreich ataxia.
Alastair Wilkins (Principal Investigator)
Neil Scolding (Co-Investigator)
Funded Period: may 12 - abr 15
University of Bristol, Bristol, United Kingdom, Brunel University, Uxbridge, United Kingdom

Mössbauer Study and Modeling of Iron Import and Trafficking in Human Jurkat Cells

Mössbauer Study and Modeling of Iron Import and Trafficking in Human Jurkat Cells. Nema D. Jhurry, Mrinmoy Chakrabarti, Sean P. McCormick, Vishal M. Gohil, and Paul A. Lindahl; Biochemistry, Article ASAP. DOI: 10.1021/bi401015t Publication Date (Web): November 1, 2013.

Clinical features and progression of cardiomyopathy in patients with Friedreich's ataxia

Clinical features and progression of cardiomyopathy in patients with Friedreich's ataxia. Vincent Pureza, Linda Hasadsri, W. Edward Highsmith, Devin Oglesbee; Mitochondrion, Volume 13, Issue 6, November 2013, Page 925.

"We hypothesize that the cardiac manifestations will predominantly present as a diastolic dysfunction"

Iron metabolism and the role of iron in neurodegenerative disorders

Iron metabolism and the role of iron in neurodegenerative disorders; Maya Hadzhieva, Elmar Kirches, Christian Mawrin. Neuropathology and Applied Neurobiology
Accepted Article (Accepted, unedited articles published online and citable. The final edited and typeset version of record will appear in future.) DOI: 10.1111/nan.12096

KEYWORDS: neurodegeneration; ROS; iron; mitoferrin; TfR; DMT1; ferritin; frataxin; IscU

Late onset Friedreich ataxia: clinical description of a family in Argentina.

Late onset Friedreich ataxia: clinical description of a family in Argentina.; Perez Akly M and Alvarez F Medicina (B Aires). 2013;73(5):457-460.

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Unclassified cardiomyopathies in neuromuscular disorders.

Unclassified cardiomyopathies in neuromuscular disorders.. Finsterer J, Stöllberger; Wien Med Wochenschr 2013 Oct 24