Text analytics for genotype-phenotype association in Hunter Syndrome
Linguamatics
Bone deformities, hearing loss, frequent respiratory infections, cognitive impairment and chronic heart and liver disorders are symptoms suffered by infants with Hunter syndrome (also known as Mucopolysaccharidosis II). This blog follows our previous blog on associations between genotype and phenotype in very rare diseases, carried out by Shire.
Shire, now part of Takeda, provides an enzyme replacement therapy for Hunter Syndrome. However, in order to ameliorate the neurocognitive effects, the enzyme replacement molecule needs to be delivered to the central nervous system (CNS) via an innovative implant device, which is an invasive procedure.