Research FAQ's


Dr Juliet A. Ellis welcomes your questions about research.


Luliet Ellis

Dr Juliet A. Ellis trained as a biochemist at the University of Bristol, where she developed an interest in understanding the cellular mechanisms underlying inherited diseases. However, it was her post-doctoral work at Cambridge, working with Prof Martin Bobrow of The Dept. Medical Genetics, at the university and Dr John Kendrick-Jones at Medical Research Council, Laboratory of Molecular Biology, where she was the first to identify a function of the nuclear protein emerin. This research led to her being awarded a group leader position in The Randall Division of Cell and Molecular Biophysics at King’s College, London where she has expanded her work to encompass several more neuromuscular disorders and cardiomyopathies. In this role she has met affected families with a wide range of myopathic conditions and the clinicians who treat them. Recently, she has also joined Prof. Francesco Muntoni’s team at The Institute of Child Health, University College, London, as a Clinical Research Study Coordinator for a range of therapeutic trials occurring across Europe on Duchenne Muscular Dystrophy.

Please post your Research Questions here to Dr Ellis for publication on this page. To protect your identity, any questions you send through to us will be posted anonymously and personal information removed.

 

 
 
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How does Myotubular Trust select research?
Who is on the Scientific Advisory board?
What type of research is Myotubular Trust currently funding?
How does the funding of these new research projects impact on those that do not have the x-linked form of MTM?
Should we be safeguarding our affected children's muscle biopsy tissue and will it be needed for future clinical studies?

23.09.09 - Should we be safeguarding our affected children's muscle biopsy tissue and will it be needed for future clinical studies?


The short answer to your question is 'yes' - you should keep track of your children's tissue samples.  Remember Bristol and Alderhay disasters of the 90s; where 'body parts' were removed without parental consent and stored separately? Well, UK legislation has now been re-written to try and prevent this from happening again. If your child has given blood etc and it is stored, YOU should have been told where. You can also demand for it to be destroyed or recovered by yourself and moved to another doctor/hospital. Muscle biopsies are particularly painful on children with muscle diseases so you need to keep track of your child's sample since it can be analysed more than once as long as it is stored correctly.

As new treatments/tests come to light your samples will be invaluable to the medical professionals studying the disease. This is why they are stored in the first place. You might like to look at the NHS Charter 2009 (use this phrase as a search item on Google) to learn your rights.  Another web site which is helpful is: http://www.adviceguide.org.uk/index/family_parent/health/nhs_patients_rights.htm

The important points to remember are:
1) Do not be afraid to make a fuss - it is YOUR life (or that of your child's)
2) You have the right to ask any question you like - however silly it may seem to you
3) You have a right to know why samples are being taken, where they are being stored and what they are going to be used for and by whom. In fact you need to sign a consent form.

Basically, if you are not happy about something or someone, then it is your right to be able to speak to someone who can help you. You can even quote the Charter at them! And of course being in hospital can be scary and if you are not feeling well too it can be difficult to keep a level head.

10.09.09 - How does the funding of these research projects impact on those that do not have the X-linked form of MTM?


You remember the song “Your ankle bone is connected to your leg bone, your leg bone is connected to your hip bone, your hip bone is connected to your etc”? Well, that song is saying that all the bones in your body are in some way, all joined together. Sometimes the bones are directly bound to one another like your ankle bone and leg bones; sometimes they are indirectly linked, such as your ankle bone and your hip bone. And you know that if you hurt your ankle, there may be a knock-on effect so that your hip hurts too.

The same can be said for all the proteins known to be defective in the different types of CNM regardless of whether they arise from an X-linked or autosomal form of inheritance. So, we know that myotubularin, dynamin-2, amphyphysin-2, ryanodine receptor etc proteins indirectly bind to one another, because they are all part of the same network within a muscle cell, in the same way that all of the bones of our body are part of our skeleton. If one of these proteins is defective, e.g. myotubularin, there is likely to be a knock-on effect on the function of the other proteins involved in CNM.

So what is this network the CNM proteins are all part of? Well it is involved in both making and moving the fat known as phosphoinositide around the inside of muscle cells including its interaction with the T-tubule network, which is this hair-net like structure encompassing the outside of the muscle cell. So, since there is a functional connection between all the proteins responsible for CNM, by studying one of these proteins e.g. myotubularin, we will learn more about the role of the other proteins involved in MTM. This in turn will help us understand non-X-linked forms of MTM.

11.08.09 - How does Myotubular Trust select research?

The Myotubular Trust has set up a Scientific Board which is chaired by Professor Francesco Muntoni of The Institute of Child Health, University College London. The Board will make a recommendation to the Myotubular Trust trustees on which projects to fund. The Trust is looking to fund projects that will help find a cure and / or a treatment for any of the three types of myotubular myopathy (congenital X-linked recessive; congenital autosomal recessive; autosomal dominant), focusing on research that would not generally be funded by public or industrial funding sources.

The Trust may be willing to fund the continuation of an existing research project (but not to fund a project that is already being funded by another body). The lead applicant and point of contact must be in Europe as The Trust will only currently fund European research. Applicants will normally be expected to hold tenured or tenure-track appointments. If the grant requires ethical approval and/or Government licences for animal work, the award is dependent upon the requisite approvals being granted. You can read more here.

11.08.09 - Who is on the Scientific Advisory Board?

The Myotubular Trust Scientific Advisory Board consists of eminent professors in the field of neuromuscular medicine.
  • Professor Francesco Muntoni, Professor of Paediatric Neurology, Imperial College London
  • Professor Michael Duchen, Professor of Physiology, University College London
  • Professor Mike Hanna, Professor of Neurology, University College London
  • Professor Hanns Lochmuller, Professor of Experimental Myology, Newcastle University
  • Dr Meriel McEntagart, Consultant Clinical Geneticist, St George’s Hospital, London

11.08.09 - What type of research is Myotubular Trust currently funding?

Myotubular Trust is funding two pieces of research which will begin in September 2009.
The first project, which will be run by Dr Richard Piercy, a Vet at The Royal Veterinary College, will use a naturally occurring Labrador dog model for the disease, to try and understand what aspect of muscle function has stopped working properly in these muscle conditions. To do this, he is going to take muscle cells from both a healthy and an MTM-affected dog, grow them in the laboratory and compare these cells for differences in cell pathology, such as cell size and shape. He will also compare the muscle cells for how well they work when asked to contract. This will give an indication of the strength of the muscle.
The second project, which will be run by Dr Anna Buj-Bello at INSERM, a French laboratory, will use mouse models for the disease. She will try a variety of therapeutic 'rescue' approaches such as gene therapy and drug administration. Her mouse models lack myotubularin either from just muscle or from all body tissues. She will then add back myotubularin, or a drug, and monitor all of the body organs over time for health improvements. She will treat mice both prior, and subsequent to, the development of the clinical symptoms of MTM. Therefore these experiments will not only tell us whether this treatment will be suitable to alleviate the clinical symptoms of the disease, but also whether it could stop the development of the disease from the outset. The research output from both of these projects is likely to suggest therapeutic strategies to treat MTM patients of all ages.

To read the full laymen’s articles about the research, please download these PDF’s:
Dr_Richard_Piercy.pdf (70KB)
Dr_Anna_Buj_Bellow.pdf (70KB)