Preventable axon degeneration in human disease

Nerve cells have long, thin structures (axons), that project around our brain and spinal cord, and to skin, muscles and other organs. Axons make connections that control our bodies. They are lost early in many disorders causing pain, paralysis, spasticity, tremor, memory deficits or blindness. We identified, and characterised along with other scientists, a preventable axon degeneration mechanism common to many diseases. Here, we will use the extensive knowledge gained animal studies to test for human diseases involving this degeneration mechanism. This is important to known which diseases may respond to drugs that block it. We will use human genome sequences, stem cell- and neuron cultures to study rare, inherited disorders, motor neuron disease, and peripheral neuropathies caused by diabetes or cancer chemotherapy. This study, together with ongoing drug development, could result in major improvements for some rare disease patients, and may lead to widely-applicable therapies in neurodegenerative disorders.