Zebrafish shed light on human mitochondrial diseases
Zebrafish can now be used to study COX deficiencies in humans, a discovery that gives scientists an unprecedented window to view the earliest stages of mitochondrial impairments that lead to...
View ArticleDiscovery of a genetic mutation underlying late-onset Leigh syndrome
Researchers at the Montreal Neurological Institute and Hospital (The Neuro), McGill University have discovered a genetic mutation underlying late-onset Leigh syndrome, a rare inherited metabolic...
View ArticleResearch to explore diagnosis and treatment of rare diseases
The National Institutes of Health announced today a second phase of the Rare Diseases Clinical Research Network (RDCRN) including funds for 19 research consortia.
View ArticleMHI researchers receive $4.8M as grants for genetics and genomic medicine...
Two research teams led by Dr. Christine Des Rosiers and Dr. John D. Rioux, both researchers at the Montreal Heart Institute (MHI) and professors at the Universit- de Montr-al, have been awarded grants...
View ArticleResearchers discover new genetic defect that can lead to Leigh syndrome
In Leigh syndrome, infants are born apparently healthy only to develop movement and breathing disorders that worsen over time, often leading to death by the age of 3. The problem is that the...
View ArticleEdison receives EMA COMP orphan designation for EPI-743 to treat Leigh syndrome
Edison Pharmaceuticals announced today that the Committee for Orphan Medicinal Products (COMP), European Medicines Agency, has granted orphan designation to EPI-743 for the treatment of Leigh syndrome.
View ArticlePositive results from Edison’s EPI-743 phase 2A study on Leigh Syndrome
Edison Pharmaceuticals today announced positive results of a recently completed phase 2A study entitled, "Prospective Open Label Study of EPI-743 in Children with Leigh Syndrome (Subacute Necrotizing...
View ArticleData emphasise need for comprehensive analysis of mtDNA in mitochondrial...
French scientists have discovered that supposedly rare mutations in the mitochondria, the 'power plants' of human cells responsible for creating energy, account for more than 7% of patients with a...
View ArticleStudy may lead to personalized treatments for mitochondrial energy disorders
Researchers have identified a master network of signaling molecules that acts like a "fuse box" to regulate the cellular effects of defective energy flow in mitochondrial respiratory chain diseases—a...
View ArticleResearchers discover new gene mutations which cause devastating mitochondrial...
Researchers have identified a novel disease gene in which mutations cause rare but devastating genetic diseases known as mitochondrial disorders.
View ArticleEdison's vatiquinone receives Orphan Status for treatment of Friedreich's ataxia
Edison Pharmaceuticals today announced that the US Food and Drug Administration has granted Orphan Status to vatiquinone for the treatment of Friedreich's ataxia.
View ArticleEdison Pharmaceuticals initiates Phase 2B/3 study of EPI-743 in children with...
Edison Pharmaceuticals today announced the initiation of a phase 2B/3 study entitled, "A Phase 2B/3 Open-label Study of EPI-743 in Children with Leigh Syndrome" to be conducted in conjunction with...
View ArticleFDA grants Fast Track designation to Edison’s lead drug EPI-743
Edison Pharmaceuticals today announced that the United States Food and Drug Administration granted Fast Track designation to EPI-743, the company's lead drug, for the treatment of Friedreich's ataxia....
View ArticleEdison Pharmaceuticals begins EPI-743 clinical trial in children with Pearson...
Edison Pharmaceuticals today announced the initiation of a phase 2 study entitled "A Phase 2 Safety and Efficacy Study of EPI-743 (Vincerinone™) in Children with Pearson Syndrome." The Investigative...
View ArticleTransgenomic to provide genetic testing services for Raptor’s clinical trial
Transgenomic, Inc., a global biotechnology company advancing personalized medicine in cardiology, oncology, and inherited diseases through diagnostic tests as well as clinical and research services,...
View ArticleEdison Pharmaceuticals' EPI-743 granted orphan designation for Leigh syndrome...
Edison Pharmaceuticals has announced that the Japanese Ministry of Health, Labor and Welfare (MHLW) has granted Orphan Designation to EPI-743 for the treatment of Leigh syndrome.
View ArticleEdison's EPI-743 receives FDA orphan drug designation for treatment of Leigh...
Edison Pharmaceuticals today announced that the FDA has granted Orphan Drug status to vatiquinone for the treatment of Leigh syndrome.
View ArticleSalk researchers move one step closer to making cures for genetic diseases a...
Healthy brain, muscle, eye and heart cells would improve the lives of tens of thousands of people around the world with debilitating mitochondrial diseases. Now, researchers at the Salk Institute have...
View ArticleRapamycin drug could target neural damage linked to Leigh syndrome
Salk Institute scientists showed how an FDA-approved drug boosts the health of brain cells by limiting their energy use. Like removing unnecessary lighting from a financially strapped household to save...
View ArticleScientists identify timing of major metabolic shift in developing neurons
Our brains can survive only for a few minutes without oxygen. Salk Institute researchers have now identified the timing of a dramatic metabolic shift in developing neurons, which makes them become...
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