Tag Archive: Charcot Marie Tooth


Find out more about Sanfilippo Syndrome and Charcot-Marie-Tooth

A couple of diseases I work on are described in two of recent newsletters. First up is Sanfilippo Syndrome, which is described in the Lysosomal Disease Network’s newsletter Indications. This describes Jonah’s Just Begun and Phoenix Nest and was written By Jill Wood. I did a bit of proof reading of this article so I …

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How open publications could help rare diseases – why it needs a shake up

Working with the Hereditary Neuropathy Foundation (HNF) on Charcot-Marie-Tooth and related diseases, we have started to put out quaterly updates to highlight research being funded and also fundraising efforts. The latest update covers some research using Zebrafish. This also set in motion a bit of thought a few weeks ago on open publications. If you …

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