Metabolic Support UK works in partnership with lots of worldwide organisations to ensure that it is at the forefront of developments and can provide the best possible support to families and patients.
Here’s what some of our partners have to say about us:
“We have worked very closely with the charity for many years. They have provided such wonderful and kind support to our families when their children are diagnosed with a metabolic disorder. Their family educational meetings are always superb. They are commonly the only family network meetings available and so are very important. As Dietitians, my team at Birmingham Children’s Hospital are very happy to support Metabolic Support UK in any way we can.”
Professor Anita MacDonald OBE. Head of Dietetics, Birmingham Children’s Hospital
“Metabolic Support UK is an important collaborator on a research project investigating the applications of Next Generation DNA Sequencing for Newborn Screening. This study aims to establish whether genetic testing could be used as an initial or follow up test to help provide valuable additional information to existing Newborn Screening programmes. This study is being supported by Metabolic Support UK to ensure that patient and public opinion is being considered throughout the course of the research project.“
Clare Gladding (MSc, PhD) Research Project Manager, Sheffield Diagnostic Genetics Service
“Metabolic Support UK has been a valued partner in many developments in Newborn Screening and Inherited Metabolic Disorders. Notably, it played a key role in the development of expanded Newborn Screening and continues to collaborate in relation to research on the best ways to communicate with and support families with Inherited Metabolic Disorders. Metabolic Support UK has been a real asset and friend within the metabolic community.”
Professor Jim Bonham, Division of Pharmacy, Diagnostics and Genetics, Sheffield Children’s NHS Foundation Trust
External Groups, Partnerships and Collaborations
Metabolic Support UK is involved in some innovative new networks, research groups and initiatives, bringing the voice of those affected by Inherited Metabolic Disorders to the forefront of discussion and collaboration.
EURORDIS is an alliance of 745 rare disease patient organisations from 65 countries that work together to improve the lives of the 30 million people living with a rare disease in Europe.
By connecting patients, families and patient groups, as well as by bringing together all stakeholders and mobilising the rare disease community, EURORDIS strengthens the patient voice and shapes research, policies and patient services.
SSIEM (Society for the Study of Inborn Errors of Metabolism) is a worldwide network of specialists in different disciplines who are interested in Inherited Metabolic Disorders.
NHS Advisory Inherited Metabolic Disorder Screening Advisory Board
This is a board that feeds into the UK Screening committee, who make decisions about the conditions to be screened for in the UK. This is a lengthy and detailed process of gathering evidence for assessment. Metabolic Support UK’s role is crucial in providing the patient voice and experience. This board looks into the laboratories and pathways that can cause false positives or barriers and areas of development in the screening process. The UKSC are looking to improve the systems to ensure the patient has a better experience.
Metabolic Support UK acts as Patient Expert for Inherited Metabolic Disorders in Highly Specialised Technology Appraisals. Our role is to ensure that the reality of living with the condition is heard via true patient experiences, and considered by decision makers to improve patient access to new and improved treatments.
Next Generation DNA Sequencing in Newborn Screening (NBS) Study
Metabolic Support UK are patient advocates in this research group looking into applications of Next Generation DNA Sequencing in Newborn Screening. There are two parts to the research:
- Establish whether genetic testing could be used as an initial or follow up test, to help provide valuable additional information to existing NBS programmes.
- To develop a database to understand more clearly how genetic changes are linked to patient symptoms with NBS disorders.
Metabolic Support UK is the lead patient advocacy organisation on a new global online Urea Cycle Disorder (UCD) community. RareConnect is already established as an online platform for other rare diseases and includes disease-specific online communities that enables patients and families to meet, share stories and learn from each other. Communities are created in partnership with patient groups who bring resources such as moderators, relationships with specialists and validated information.