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Oct 2017 Our autumn newsletter is out now. Find it on our Newsletters page, or subscribe to have it sent to you by email.


Oct 2017 In our recent article published in the Journal of Clinical Endocrinology and Metabolism, we used metabolomics to characterise the response to acute caloric restriction in unprecedented detail.



Personal Experiences


We would like this website to be the basis for providing information. If possible, we would like to include some of your personal experiences.

We hope in time that you will be able to share your news and experiences with us and each other.

My name is Abigail and I am 10cake


My name is Abigail and I am 10 (nearly 11) years old.  I was diagnosed with the MC4R Gene deficiency when I was 4 years old.  This means that I am overweight for my age, but don’t judge me and think I eat lots of unhealthy food, because I don’t.



One of our patients with

leptin deficiency


Ever since I can remember all I was ever told was to watch what I eat...strict diets, watching the calories… and I never understood why.  There were many tears, a lot of upset and a constant worry for my parents.  When it came to mealtimes I was never really happy but since I was only a child this was perfectly understandable.


Did finding a gene make

a difference to me?


I was diagnosed with the MC4 defect 12 years ago when I was 12 years old. When I was first diagnosed I was initially scared, I had just been diagnosed with a condition that I wasn’t aware I had so yeah, I was really scared. I was also very confused and angry at my diagnosis. How did I end up with this condition? Why has nobody spotted it before? Was there any cure? These are all questions I asked myself.