Rare Disease Day - 28th February 2015


Dr Veronica Kinsler

Dr Veronica Kinsler

UK research into CMN syndrome takes place at Great Ormond Street Hospital NHS Foundation Trust (GOSH) and the next-door UCL Institute of Child Health (ICH), and is led by Dr. Veronica Kinsler who works in both institutions.  CMN have been described over many centuries, and are likely to have existed for as long as humans have been around.  As with many other conditions, however, it is only recently that we have been able to start to understand what causes CMN and why it appears in particular people.  In theory, with the right combination of patient participation in research studies, adequate funding, and good researchers most conditions in medicine will eventually be understood.

For the most up to date view of the research it is best to attend one of the family days, as Dr. Kinsler gives presentations into the latest findings.  Publications in medical journals about the CMN research tend to come out in bursts, as many different projects are run in parallel.  You will find links to the summaries of the publications that are already available below.  If you would like to read the whole paper and this is not available online please email Dr. Kinsler (ich.cmn@ucl.ac.uk) and a copy will be sent to you.

All of Dr Kinslers papers are ‘Open Access’ which means no subscription payment is required to view these papers. This is because The Wellcome Trust pays a substantial annual fee as it believes everyone should have access to its funded research.

Research papers