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BBS Funded Research Projects – Open

BBS Funded Research Projects – Open

Our Scientific Advisory Board recommended to our Trustee board to support the winners listed below.

Sums in the region of £10k or more were awarded from the BBS Research grants fund to each of the winning recipients. Watch this space to find out how you can get involved in these studies and contribute to the research.

2019 Funded Research Projects


Dr. Judith Bubbear of the Royal National Orthopaedic Hospital – The therapy needs for adults living with OI

People with OI experience recurrent fractures; however they are also more likely to have other musculoskeletal issues such as dislocated joints, tendon and ligament injuries compared to the general population. This has been raised as a key concern by adults with OI, but there is no evidence on prevalence of musculoskeletal complaints and how therapy might best be organised for them.  This study is aiming to quantify and describe the types of soft-tissue problems adults with OI suffer with and what adults with OI perceive the problems to be.  We hope this will be able to inform service departments.


Dr. Kassim Javaid of The Botnar Research Centre, Oxford University Hospital, NHS Foundation Trust – NHS healthcare resource use and costs for people with Osteogenesis Imperfecta

The care for adults with OI is fragmented, and most do not receive the quality of care they need. To address this, NHS England is developing a specification for expert rare bone disease centres. A central concept is that better-coordinated care leads to better outcomes for people with rare diseases, their family and the wider NHS. It is therefore crucial for the NHS to understand the healthcare services used by people with OI and their costs. This research application directly addresses these questions by describing how adults with Osteogenesis Imperfecta use NHS services in hospitals as well as in the community. This information will be useful for people with OI, their families, clinicians and policymakers.


Dr. Antonella Florino of the Department of Molecular Medicine, Biochemistry Unit, University of Pavia, Italy – Development of a novel combined anabolic and anti-catabolic bone specific drug to treat OI

No definitive cure is available for OI and novel therapies are an urgent patients’ need. In the last decade, it became clear that the skeletal deformity and fragility associated to reduce bone mineral density, typical features of the disease, are not only due to the abnormal type I collagen in the bone matrix. The compromised function of bone forming cells, caused by intracellular retention of the mutant protein, is also contributing to OI severity. Thus, targeting simultaneously the cellular compartments and the bone matrix seems promising. We aim to develop and in vivo test a new drug that will combine the stimulation of osteoblasts protein secretion to the bone resorption reduction by conjugating the chaperone 4-phenylbutyrate to the alendronate.


2018 Funded Research Projects


Dr Meena Balasubramanian of Sheffield Children’s NHS Foundation Trust for her project Assessing the Balance of Cost and Determining the Experiences of Families in Paediatric Osteogenesis Imperfecta Healthcare (ABCD Study), said:

“I am delighted to be one of the winning recipients in the BBS first ever Grants Research Round. This generous funding will be of enormous help to the ABCD project that I am working on. Most patients with Osteogenesis imperfecta go through a prolonged patient journey before diagnosis of OI is confirmed and appropriate treatment is instituted. The ABCD study is designed to assess the healthcare needs for children with OI and how early diagnosis impacts their patient journey and healthcare costs. I look forward to reporting back on progress of my project to the BBS at their events in the coming months and years. I hope this is one of many innovative research studies funded by BBS to improve the health and wellbeing of children and families with OI.”

You can  find out more about this study and how to get involved here.

Dr Alex Ireland, a Lecturer in physiology at Manchester Metropolitan University for his project on physical function and soft-tissue health in individuals with OI, said:

“I am so thrilled to be one of the winning recipients in the BBS first ever Grants Research Round. Having this support will greatly benefit the study I’m working on with my colleague Prof Neil Reeves, and our clinical collaborator Prof Peter Selby from Manchester Royal Infirmary. We will research how the size and function of muscle and tendon in adults with OI are affected by the disease. This information could help us to understand health problems related to OI including tiredness, reduced mobility and dislocations. I look forward to reporting back on progress of my project to the BBS at their events in the coming months and years.”

You can find out more about this study and how to get involved here.

You can also listen to Dr Ireland and his colleague talk about the project on our Podcast page

Both participants were awarded the grants in January 2018.


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