Tuesday, 19 February 2013

The Science and the Cash

What the DC Trust website says about where the money goes :


We collaborate closely with other Duchenne organizations to ensure that you money only goes to properly vetted science.
  • In the UK, our partners are the scientific advisory board of the Muscular Dystrophy Campaign. We also work closely with Action Duchenne.
  • Globally, we are members of the Duchenne Alliance – a global group of parent and advocacy groups who have come together to create an innovative research and grant management system that will facilitate an unprecedented level of collaboration to help scientists dedicated to finding treatments and cures for Duchenne. It allows scientists to apply for funding – and crucially enables foundations to quickly collaborate and contribute funds to promising projects, thus expediting the search for a cure.


Sanjay Bidichandani, the vice-president of research at the American Muscular Dystrophy Association says that effective treatments to prolong survival and improve the quality of life for people with Duchenne are about 5-10 years out.

Some areas in which research is being focused at the moment include:

Exon skipping

This is the most promising of treatments. It aims to skip the section of the gene that has a mutation so that the dystrophin protein can still be produced in an altered form, causing drastically reduced symptoms of DMD. This drug will help existing Duchenne sufferers and has been found to be effective in human trials – which are currently ongoing. However the drugs currently in trial will only help 15% of the Duchenne population. Our aim is to make these drugs available for ALL patients.

Utrophin Upregulation

Utrophin performs a similar function to Dystrophin in keeping muscle cells alive. Utrophin is a naturally occurring protein in the body, but the body stops producing at an early stage in life. This therapy aims to switch back on the utrophin production in the body. This treatment would work in all boys with Duchenne, regardless of their mutation.

Gene Replacement Therapy

The aim is to produce a synthetic gene which can be introduced into the body replace the job of producing the missing protein dystrophin.

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