Annual Report 2013-14 CMN research making excellent progress
The research has con@nued to make excellent progress this year thanks to the funding of consumable costs for the CMN projects by Caring Ma,ers Now. Caring Ma,ers Now members have con@nued to join the research projects in good numbers. The year has culminated in the successful applica@on to the Wellcome Trust for an Intermediate Clinical Fellowship grant total value £827,000, to be used over 48 months from 1st February 2015-‐31st January 2018.
UK research into CMN takes place at Great Ormond Street Hospital (GOSH) and the next-‐door UCL Ins@tute of Child Health (ICH). The CMN research is led by Dr. Veronica Kinsler who works in both ins@tu@ons. In recent years we have been able to start to understand what causes CMN syndrome and why it appears in par@cular people. Gene@cs of CMN
This project produced a big ﬁnd this year with the discovery of a new gene in about 15% of CMN families which seems to make CMN more likely to occur in those families (rather than being directly responsible for the CMN itself). Having found this gene in CMN families we looked in adult people with melanoma (but no CMN) and found that the gene is also present in some of their families where the melanoma occurs at an early age. This shows the power of rare diseases in inves@ga@ng more common condi@ons, and it was on the basis of this ﬁnding (plus the research output over the last couple of years) that won the Wellcome Trust grant.