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Research

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.  

Profile for Caring Matters Now

Caring Matters Now Annual Report 2013 14  

Caring Matters Now Annual Report 2013 14  

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