Submission of the Week
Sanfilippo syndrome (mucopolysaccharidosis type III; MPS III) is a rare lysosomal storage disease of childhood, caused by an inherited genetic deficiency of enzymes responsible for the breakdown of mucopolysaccharides. A deficiency in these enzymes causes large sugar molecules to accumulate in the lysosomes of brain and CNS cells, leading to a devastating neurodegeneration, intellectual deterioration, visual impairment and hearing loss. There is currently no cure or effective treatments.
As with many rare diseases, funding for research can be scarce. Phoenix Nest was formed by the parent of a Sanfilippo syndrome child and a pharmaceutical researcher. Their vision was to create a company that could apply for funding grants into treatments for the disease. This poster presents the journey of the company thus far and how the model of Phoenix Nest could serve as a template for other rare genetic diseases and how it could be used to support and organise research collaborations.
J Wood, S Ekins Based on: 11th Annual World Symposium 2015
Based on: Citizen Science 2015, Poster ID:1097656
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