Professor Cox is a world-leading expert in these three life-threatening conditions for which supporting funds are urgently needed to improve research outcomes and accelerate medical advances leading to more effective treatments.
Each disease has severe effects in babies and young children, and they do so mainly by affecting the brain. Although different in their own way, the conditions share a capacity to be treated: if the missing factor that is responsible is supplied in the vicinity of the affected brain tissue, it will be taken up and correct the disease – particularly if given at an early stage, before irreparable damage has occurred.
The three illnesses are Tay-Sachs Disease, Sandhoff Disease and Gaucher Disease; the family of conditions to which they belong are the lysosomal diseases. Massive strides have recently been made in the therapy of the lysosomal diseases, of which about 70 are known.
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