Rare Diseases

Rare Conditions are defined as medical conditions occurring in fewer than 1 in 2,000 individuals. Although individual conditions are rare, collectively they are common with approximately 1 in 17 individuals estimated to be affected by a Rare Condition.

Approximately 80% of Rare Conditions have a genetic basis, and about 75% affect children. Diagnosing, understanding, managing, and treating Rare Conditions remains challenging. People living with Rare Conditions often require a lifetime of complex care that can profoundly impact education, financial stability, physical health and mental health.

Manchester has an extensive research infrastructure for undertaking work in this area and continues to strengthen its position as a globally leading powerhouse of Research and Innovation in Rare Conditions. Examples include:

In the NIHR Manchester Biomedical Research Centre (BRC)

NIHR early-stage clinical trials and experimental medicine research facility

NIHR & Medical Research Council (MRC) Rare Disease Research (RDR) UK Platform

Rare Conditions researchers in Manchester are regularly awarded substantial competitive research grant funding from a variety of funding sources. Together, these varied research income streams have allowed Manchester based researchers to regularly contribute to research publications related to Rare Conditions.

Our commitment to improving lives of people living with Rare Conditions is also evidenced by our commitment in establishing the The Manchester Rare Conditions Centre (MRCC) . A virtual platform for the coordination of clinical care, diagnostics, research, innovation, education, training, engagement and advocacy. With a mission to create an exemplar network of healthcare services in Manchester and aiming to improve the lives of people and families living with Rare Conditions.

Operating as a dedicated hub working to address and support the unique challenges faced by individuals with Rare Conditions, the MRCC plays a leading role in enabling, connecting and expanding the Rare Conditions research infrastructure and capacity in Greater Manchester.  The MRCC is driving significant Research and Innovation breakthroughs in the field, contributing towards the development of a workforce fit for delivering services and breakthroughs, facilitating engagement between relevant stakeholders and catalysing a compassionate empowered community for people and families living with Rare Conditions. 

The MRCC has multiple Research and Innovation focused strategic objectives:

  • Support Rare Conditions related research programmes in Manchester
  • Leverage data, digital and devices for Rare Conditions work in the region
  • Establishment of new Rare Conditions Research Fellowship scheme

The MRCC’s Research and Innovation Theme enhances and promotes early career researchers through the establishment of the MRCC Research Fellows Scheme. This scheme enables a pool of dedicated clinicians available to support numerous projects simultaneously and allows research teams across the Manchester Foundation Trust to accept more opportunities to deliver these complex trials. In turn, expanding Manchester’s potential to access and develop novel treatments for patients. MRCC Research Fellows are involved across a growing portfolio of clinical trials including investigating Rett syndrome, Fragile X syndrome, Aicardi-Goutières Syndrome and PIK3CA-related overgrowth spectrum (PROS), as well as a large portfolio of inherited metabolic disorders.

Additionally, St Mary’s hospital is a prime recruitment site for The Generation Study, a pioneering national landmark research programme endeavouring to sequence the genomes of over 100,000 newborn babies across England. Led by Genomics England partnering with the NHS this study investigates the feasibility and acceptability of using whole genome sequencing to screen newborns for Rare Conditions where early treatment is available.

In addition to its Research and Innovation Theme, the MRCC has three other Themes delivering its vision:

The MRCC’s Clinical and Diagnosis Theme positions and integrates Manchester as a central geography within the Rare and Inherited Disease NHS Genomic Network of Excellence alongside Bristol and Exeter. This network aligns with NIHR BRCs in Manchester and aims to identify and advance rare disease diagnosis and patient care. Enabling research findings for clinical practice and clinical trials, spotlighting focus on how to help patients receive faster treatment, reduce genomic health inequalities and develop new testing approaches for faster diagnosis.

The MRCC’s Education and Training Theme founded the MRCC Academy. This educational training academy bridges the gap between The Manchester Foundation Trust and the University of Manchester. Providing a platform for clinical scientific leaders and students to share and upskill Rare Conditions knowledge through interdisciplinary collaborative workshops, journal clubs and a regular seminar series.

The MRCC’s Engagement and Advocacy Theme has established the patient support group We R Rare. We R Rare is a Patient, Carer and Family Steering Group which co-designs and informs the development of Research and Innovation projects in Manchester. All members have direct experience of Rare Conditions across Manchester and Northwest England, and are passionate about raising awareness the challenges faced by those living with Rare Conditions. Meeting regularly, together We R Rare is positively shaping the research, services, and support available to people living with Rare Conditions.

The four Themes of the MRCC embody our five Strategic Drivers:

  1. Fostering Innovation – Nurturing an environment that encourages creative thinking to find innovative solutions that support advancements
  2. Collaborating Effectively – Forging connections with partners and influential thought leaders, driving collaborative endeavours that amplify the impact
  3. Engaging Communities – Establishing strong bonds with communities, the public, and patients, nurturing open communication and mutual understanding
  4. Building Sustainable Infrastructure – Constructing resilient infrastructure and streamlined pathways to ensure long-term sustainability and capitalise on scale advantage
  5. Leveraging Uniqueness – Leveraging our distinctive positioning, such as its life course perspective, to position Manchester as an appealing hub for collaborators and investment 

For more detailed information about any of the MRCC’s group’s activities, visit the MRCC Website.

Get in touch

Contact: Stephanie Li, Rare Diseases Project Manager, Manchester University NHS Foundation Trust: 0161 276 5931 

Find out more about our rare disease work in Stephanie’s blog: Why we need to focus on rare disease – individually rare, collectively common

Contact: Peter Style, Project Manager, Manchester Rare Conditions Centre (MRCC) 

Rare Disease in the news

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