Leigh Syndrome News and Research

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Edison 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.

12 Sep 2012

Researchers 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 mitochondria responsible for powering their cells can't keep up with the demand for energy in their developing brains.

7 Sep 2011

Discovery 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 disorder characterized by the degeneration of the central nervous system.

11 Aug 2009

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 potentially fatal metabolic disorders, according to researchers at the University of Oregon.

13 Sep 2007