Research

Here you can find out about current research studies and published research papers that are of interest to those with M-CM/MCAP.

Current Research Studies

Segmental Overgrowth Study (SOS) at Cambridge. This study is currently open to new participants and you can contact the study directly to find out if you or your child are suitable for participation.
The SOS are interested in understanding more about disorders of abnormal growth, with the aim of finding better treatments for these conditions.
The SOS is based at the Institute of Metabolic Science, University of Cambridge Hospitals NHS Trust, Cambridge, United Kingdom and are supported by the Wellcome Trust and National Institute for Health Research (NIHR).

You can find out more about the research by following clicking here or you can read their latest newsletter here.

The 100,000 Genome Project. This is currently the largest national genome sequencing project in the world.

The project is working to sequence 100,000 genomes from around 70,000 NHS Patients. The project is focused on patients with a rare disease and their families and patients with cancer. Their aim is to create a new genomic medicine service for the NHS, this could transform the way people are cared for. Patients may be offered a diagnosis where there wasn’t one before. In time, there is the potential for new and more effective treatments to be developed.

The first samples for sequencing are being taken from patients living in England with discussions taking place with Scotland, Wales and Northern Ireland about potential future involvement. M-CM is not currently in their list of rare diseases being studied but this list is being expanded and updated regularly.

To find out more about the project please click here.

Closed Research Studies.

Deciphering Developmental Disorders (DDD). This study is closed to new participants.

The DDD has been using the latest genetic technologies to better understand developmental disorders. The study has spent 4 years collecting DNA samples from over 12,000 children and adults with developmental delays and their parents. Their aim is to provide a confirmed genetic diagnosis for as many children as possible. Many participants are still having their genetic samples tested and it is therefore anticipated that there will be continued intelligence to come from the project.

You can find out more about the research and its outcomes by clicking here.

Published Papers – free to access

Published Papers – requiring subscriptions