THE Steering Committee
The MCDS Registry Steering Committee comprises a mixture of clinical and research expertise, as well as representation from patients and patient organisations. The committee is chaired by Dr Marta Bertoli, and collectively they are responsible for:
- Providing strategic guidance for the registry
- Overseeing and approving data requests and trial recruitment enquiries
- Ensuring appropriate quality control and validation of data
- Ensuring the Registry is well governed
Dr Bertoli is a consultant clinical geneticist working at the Newcastle upon Tyne NHS Foundation Trust. Marta was Newcastle Hospital’s Principal Investigator for the MCDS-Therapy clinical trial, and has a long standing interest in skeletal dysplasia and genetic conditions.
Michael Wright is a Consultant in Clinical Genetics and Deputy Medical Director at Newcastle Hospitals. He is also an associate clinical lecturer at Newcastle University. Michael has extensive experience within the NHS as a clinician with expertise in genetics and molecular medicine. He was the Chief Investigator for the MCDS-Therapy clinical trial.
Professor Michael Briggs was appointed Professor of Skeletal Genetics at Newcastle University in 2012. Mike has played prominent roles in the establishment of three European consortia for the diagnosis and research of genetic skeletal diseases. His research interest focusses on understanding disease mechanisms in genetic bone diseases to help identify therapies for future clinical trials.
Sharon McDonnell is a Principal Genetic Counsellor at the Northern Genetic Service in Newcastle upon Tyne. Sharon has more than 25 years’ experience working with families with genetic conditions, specialising in bone dysplasias. In her role as a genetic counsellor, Sharon uses her specialist knowledge to support patients and their families both practically and emotionally by arranging genetic testing or providing psychological support. Through education Sharon helps patients and families understand the implications of genetic conditions, how a diagnosis can impact their life, discuss implications for family planning and recruits patients to relevant research studies. She frequently visits patients’ schools or workplaces to educate others about bone dysplasia’s and is involved with several charitable organisations involved in restricted growth. She sits as a genetics expert in multidisciplinary team meetings and clinics across hospital settings and on an ethical committee board. Sharon has been involved in the development of national management frameworks for those with restricted growth. Alongside her clinical duties, she lectures masters students at Newcastle University and is a GCRB assessor.
Stephanie Birch currently works in Procurement for a large Local Government Authority. As a patient and public representative on the MCDS Registry’s steering committee, Stephanie’s personal experience provides valuable input to the registry.
Dr Rick Thompson and Blayne Baker worked on the EU-funded project, MCDS-Therapy, which worked to develop the first therapy for the ultra-rare bone disease, metaphyseal chondrodysplasia type Schmid (MCDS), as representatives from the UK-based charity, Beacon: for rare diseases.
MCDS-Therapy included a clinical trial as part of the project to test whether the drug carbamazepine could be repurposed to treat MCDS patients. The clinical trial sought to prove that carbamazepine is not only safe to use but is also effective in reducing the pain and mobility difficulties experienced by MCDS patients.
Rick and Blayne were responsible for MCDS-Therapy’s external communications and patient engagement. They managed the MCDS-Therapy website, social media accounts and newsletters. They are building a community for MCDS patients, families and researchers that’s supportive, engaging and informative. They were involved in conducting focus groups and surveys to better understand the patient experience and needs of the community. Beacon presented its findings at key conferences and represented that patient voice at consortium meetings.