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The development of new diagnostics techniques for a group of lysosomal disorders

September 2015

BRC-supported researchers have teamed up with BioMarin, a company that develops and commercialises innovative biopharmaceuticals for serious diseases and medical conditions, to develop a new and more efficient method to identify patients with a particular type of lysosomal storage disorders.

Landau Kleffner syndrome

Landau Kleffner syndrome (LKS) is a rare epilepsy. It occurs in children usually between the ages of three and nine years and is characterised by loss of language skills and silent electrical seizures during sleep. It may be associated with convulsive seizures and additional difficulties with behaviour, social interaction, motor skills and learning. It is not usually life-threatening, but can impact greatly on quality of life unless it responds well to treatment. It occurs in approximately one child in a million. The disease is more common in boys and does not usually run in families.

MIBG scan

An MIBG scan is used to look for uncontrolled or abnormal cell growth in the body. It works by injecting a substance called an isotope into your child’s veins. The MIBG scan is named after the chemical ‘iodine-131-metaiodobenzylguanidine’ or MIBG for short, to which the isotope is attached.