Charcot–Marie–Tooth disease (CMT) is a condition that affects the peripheral nervous system. It leads to progressive muscle weakness and loss of sensation in the lower and later on upper limbs. It is the most commonly inheritable neuromuscular disorder and, at the moment, remains incurable. CMT is very heterogenous and the first symptoms can appear both in early childhood or during adult life. Its heterogeneity makes it a difficult condition to study and find treatment for.
Charcot-Marie-Tooth disease (CMT) is an inherited neurodegenerative condition that affects 1 in 2500 individuals. Currently, however, it is still lacking effective treatment options. New research has demonstrated that a class of cytoplasmic enzymes called tRNA synthetases can cause CMT by interfering with the gene transcription in the nucleus. This breakthrough is the result of an international academic collaboration, where scientists from the VIB-UAntwerp Center for Molecular Neurology and the Scripps Research Institute were the driving force. The study was published in the leading journal Nature Communications.
Today, BioPontis Alliance for Rare Diseases, a unique international nonprofit organization, and VIB, an excellence-based Life Science Research Institute in Belgium, announced a strategic partnership in rare diseases. The first program is aimed at developing a treatment for one type of Charcot Marie Tooth disease (CMT), a rare, progressive and invalidating neuropathy. There are no therapies available for CMT patients today, although it affects 1/2500 worldwide.
Scientists have revealed a new genetic cause of Charcot-Marie-Tooth disease (CMT), an inherited neurological disorder. New research has identified mutations in the gene PMP2 as another cause of CMT type 1 – the disease’s most common form. This breakthrough is the result of an international academic collaboration, including VIB, the University of Antwerp, the University of Pennsylvania, the University of Miami and the Medical University of Innsbruck. The study was published in the March issue of the leading neurology journal Brain.