- End of Life Wishes in young adults with NM conditions - Scoping study. Collaborative study with Prof D Abbott. David Telling grant £24,500
- End of Life Wishes in young adults with NM conditions - Collaborative study with Prof D Abbott. MDC grant £40000
- North Star Neuromuscular network - Collaboration with MRC centre. Bristol is an active participant.
- SMArtnet Neuromuscular network - Collaboration with MRC centre. Bristol is an active participant.
- Respiratory Endurance in Children with NM conditions. PhD project collaboration with Prof Henderson.
- Mechanisms of Actin mutations in CTFD. Collaboration with Prof Muntoni.
- Physician choices in SMARD1 a questionnaire study. A Majumdar , J Fraser
- Sexuality in Adolescents with Disability and the barriers faced by them. A Literature review. Maddie Fleming
- BARTH syndrome research.
- NSCAG status, collaboration with Prof Colin Steward.Muscle involvement (MRS) in children with Barth’s syndrome. Pilot study. Laura Marekham and Sarah Badger
- 100000 Genome project collaborator.
- Neuromuscular studies (Neuropathies) - collaboration with Bristol Genetics Laboratory Norman, Greenslade, Forrester, Williams.
- Neuromuscular studies:(Industry funded studies in DMD):
- Summit PLC - SMCT 1004 study- PI
- Summit PLC - SMCT 1005 study- PI
- Novaratis (CZOL446H2337) a study of zoledronic acid in children with secondary osteoporosis
- Dystrophin expression in IMD and BMD; a histopathological study (collaboration with F Muntoni)
- NM Rare disease translational study looking at genomic modifiers in DMD - (Collaboration with F Muntoni NIHR project)
- Pfizer Study - in preparation
- BioMarin Study - in Preparation
- Prosensa study - in preparation
- Epidimiology of NM conditions in the southwest. Collaboration with Prof Yoav Ben-Shlomo
What are we going to do in the future
We would like to continue to build our research portfolio. We have several themes which we will continue to support. We aim to strengthen existing collaborations.
These themes are:
- Neuropathy research
- Barth Syndrome research
- Duchenne Muscular Dystrophy research
- Quality of life and end of life
- Treatments for DMD
- Gene therapy for DMD
- Epidemiology of DMD in the SW of the UK