Gene discovery could treat 9 disorders
Published: August 21, 2003
MSD (multiple sulphatase deficiency) affects one in a million live births making it one of the world’s most rare disorders. While rare it’s also one of the most deadly disorders. Now british scientists aided in discoverying the gene responsible for the disorder.
Although multiple sulphatase deficiency is very rare, the discovery could have a much wider impact on the care and management of children with rare metabolic disorders.
This is because this newly discovered gene encodes an enzyme that activates a whole family of other enzymes, the sulphatases.
It could help the treatment or prevention of at least eight other rare disorders, scientists say.
A solution is not yet immenent. The discovery will lead to better diagnosis and perhaps in the future therapy. However, the discovery does bring hope.
Christine Lavery, from the Society for Mucopolysaccharide Diseases said: “This breakthrough brings long awaited hope not only to affected families of one of the rarest diseases in the world, but also to many others whose children suffer from Sulphatase deficiencies.”
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