Funding opportunity

Establish an integrated UK Rare Disease Research Platform: nodes

• Opportunity status: Closed
• Funders: Medical Research Council (MRC)
• Co-funders: National Institute for Health and Care Research (NIHR)
• Funding type: Grant
• Total fund: £12,000,000
• Award range: £800,000 - £1,250,000
• Publication date: 9 August 2022
• Opening date: 19 August 2022 12:00am UK time
• Closing date: 8 November 2022 4:00pm UK time

Apply for funding to coordinate and address tractable challenges in rare diseases and achieve a step change in the mechanistic understanding, diagnosis and therapy of rare diseases.

This is the outline stage.

Nodes must:

• provide coordination as part of a wider UK Rare Disease Research Platform
• connect the full spectrum of basic, clinical and translational research to stakeholders
• enable focused progress on defined topics.

MRC and NIHR will fund £12 million in total, for around 10 nodes.

Typical funding requests will be in the range of £800,000 to £1 million. The maximum cost that can be requested from the funders is up to £1.25 million, and we typically fund 80% of the full economic cost.

Funding is available for five years.

You must be based at a UK research organisation eligible for MRC funding.

Who can apply

Lead applicants must:

• be based in the UK
• be from any UK research organisation
• meet the standard MRC eligibility criteria as per the MRC guidance for applicants.

Check if you are eligible for research and innovation funding.

One UK principal investigator must act as the node director. There will normally be two to five UK-based co-investigators, one of whom will act as co-director to assist the node director in the leadership of the node. Costs should be limited to those necessary for the organisation of the node.

You may be the principal investigator or co-investigator on only one application to this funding opportunity. Other node members may be involved in any number of applications provided they have the capacity to meet these commitments.

We encourage inclusion of relevant investigators across:

• all career stages
• all relevant disciplines, including technology specialists and methodologists
• the basic-clinical and translational spectrum, including health practitioners, clinical services and economists.

Applications from new groupings of researchers from multiple disciplines, institutions and research interests are strongly encouraged.

Applications from existing networks are permitted only where there are clear plans to engage new partners across the UK and enable new activities to address tractable opportunities that would otherwise not be possible.

All nodes must remain open to new members, partnerships and collaborations if funded.

Who cannot apply

Researchers who are not based at UK institutions are not eligible to apply for this opportunity, but can be part of the wider membership of the node.

Applications from organisations or individuals that are not eligible will be rejected without reference to the review panel.

What we're looking for

The UK Rare Disease Research Platform is being established to support the diverse UK strengths in rare disease research.

The aim is to underpin greater collaboration between academic, clinical and industry research and patients, research charities and other stakeholders to accelerate the understanding, diagnosis and therapy of rare diseases. Rare diseases are defined as a disease with prevalence of less than one in 2,000 individuals, and including those with genetic and non-genetic origins.

The platform will bring together a number of challenge-led thematic nodes with a central platform hub (commissioned separately) to support networking and activities that enable research.

Node applications

Applications to form a platform node must be:

• designed around an identified, tractable opportunity in an area of rare disease research (a ‘domain’)
• demonstrate a compelling case for the need and prospect of success and wider impact.

Nodes will be expected to operate together, with a central platform hub, as a cohesive platform, and may be shaped during the application process to remove overlap and improve overall coverage. We would not expect to fund more than one node on any one topic.

Areas of focus

Node applications should be organised around an identified, tractable opportunity in rare disease research, for example in one of the following areas.

Cross-disease clusters or groupings

For example, an approach based on common biological pathways, processes, disease mechanisms or molecules, such as different classes of druggable targets. The approach must be exemplified in an identified group of rare diseases.

Development or application of a common tool, technology, research method or disease management approach

This could include:

• platform methods, such as massively parallel functional assays, high content screening or induced pluripotent stem cell technology, including for functional genomics
• experimental medicine studies, providing insights into disease mechanisms in human participants
• development of advanced therapies for multiple rare diseases, for example novel treatments or advanced delivery vehicles and vectors
• innovative clinical trial designs across trial phases that deliver efficient, informative studies with limited numbers of participants
• screening platforms linked to the development of early or more reliable diagnostics
• platform trials, including basket designs: allowing multiple questions to be tested dynamically and sharing an infrastructure
• harmonisation and interoperability of registries and disease cohorts where required
• digitally enabled research using web and mobile apps, wearables and remote technologies that provide novel ways of participating, that are easier for participants and that generate richer, more relevant data
• digitally enabled care pathways that link local level care with expert centres for clinical management and service delivery, including effective coordination of care for people living with multisystem rare conditions.

Cross-cutting issues

For example, issues that block progress in rare disease research generally or for large groups of rare diseases. Issues should be exemplified in one or more tractable disease areas so that delivery could be shown. This could include:

• progress on:
  • data integration for mechanistic insights in rare diseases
  • data linkage (including longitudinal natural history and treatment response)
  • data, samples and methods sharing
• approaches for patient recruitment and retention for clinical studies or trials in small populations, including efficient screening and phenotyping, ensuring equitable access across the UK and supporting engagement with international partners as needed
• identification of appropriate health economic approaches for rare diseases, and models for industry engagement when the market opportunity is small
• application of learning from exemplar rare diseases and examples of success (for example, registries, cohorts, engagement and research projects) to new disease areas.

Enabling science projects

Each node application should propose up to three projects that will be delivered during the funded period (but not necessarily continuous with each other). Projects should include high risk or enabling work that has the potential to:

• generate or de-risk further funding applications
• remove obstacles for the domain or field of rare disease research
• enable progress in a way that is not normally possible through standard response mode applications.

Projects should:

• enable progress on challenges that apply across multiple rare diseases, for example linked by common molecules, mechanisms or therapeutic avenues
• identify and remove obstacles that slow or prevent progress in rare disease research
• deliver against UK opportunities for research into the understanding, diagnosis and therapy of groups of rare diseases.

Types of projects could include, but are not limited to:

• feasibility studies
• proof of concept studies
• generation of preliminary data and preparation of cases for research and infrastructure funding
• tool, technology and method development
• meta-analysis and data preparation
• production of policy documents, reports and analyses, policy statements and frameworks.

Networking and coordination

Within each domain, a node should identify and engage with the wider relevant community, for example:

• relevant researchers and technology specialists across career stages, across relevant disciplines, and across the basic-clinical or translational spectrum, including health practitioners, clinical services and economists
• existing UK and international investments (funded by MRC, NIHR, charities or others), without duplicating existing activities and efforts and seeking to add value, including by provision or facilitation of access to an existing resource
• engagement with relevant student cadres, including doctoral training partnerships funded by MRC, UK Research and Innovation and others, although funding for studentships is not eligible for this opportunity
• relevant industry interests, for example small and medium enterprises, pharma, diagnostics and therapeutics, with any projects requiring particular industry contribution to follow the MRC Industry Collaboration Framework at full application stage as appropriate
• patients, families, health care practitioners and individuals with lived experience
• research and support charities, patient groups and philanthropic organisations
• regulators, NHS commissioners of services, ethicists and policy makers.

Stakeholders may be involved in the platform in a range of ways, for example as partners, network members or external advisory groups or board members.

Outcomes and outputs

Your node should:

• provide proactive and enthusiastic national leadership for the identified domain of a node
• support the formation of lasting multi-site partnerships that leverage and grow the UK’s strengths in rare disease research, including, for example, in:
  • genetics, cohorts, precision and experimental medicine
  • advanced therapeutics and functional genomics
  • novel study
  • trial designs
• support a diverse collaborative research community and increase cohesion and collaborations, including through the platform hub, between researchers and the relevant stakeholders. Nodes should remain open to relevant members and stakeholders, and aim to grow and develop over the period of the award
• deliver a suitable programme of activities that increases the cohesiveness and sustainability of the community, and empowers members to deliver progress. This could include:
  • problem and challenge formulation
  • solution development
  • training
  • development of follow-on funding and strategic bids
• activities that address diversity and inequality in rare diseases, for example considering gender, all life stages (such as childhood and adulthood, and conditions of gestation or ageing), geographical equity of access, and diseases that disproportionately affect members of minority ethnic populations
• deliver tangible outcomes for the holistic understanding, diagnosis and care or therapy of rare diseases.

Example deliverables or metrics of success could include:

• increased visibility and collaboration, shown by, for example:
  • increased UK, industrial and international partners engaging with the node
  • increased public and patient involvement and engagement
  • data and methods sharing
  • translation of a proof of principle from one domain to one or more additional areas of application
• increased cohesion within domains and the sector, shown by, for example:
  • competitive response mode applications from suitable teams, including novel approaches and high impact interdisciplinary proposals
  • tangible outputs and evidence for wider requirements (for example white papers and frameworks)
  • evidence of barriers and opportunities within a domain and across rare disease research, as shown by new paradigms, deep insights and systematic approaches across rare diseases collectively.

We will not fund

We will not fund nodes that:

• lack suitable specification of a domain (a tractable, defined area of rare disease research)
• are focused solely on one disease
• are mainly focused on the study or stratification of common diseases
• include the development of new animal models, although linkage to platforms such as the MRC National Mouse Genetics Network and Mary Lyon Centre are encouraged as appropriate
• duplicate or do not link to existing relevant investments and networks
• are eligible for a response mode research application (such as a lack of appropriate networking or community engagement within the node’s domain or a sole focus on research that is suitably advanced and in remit for standing funding routes).

Funding available

MRC and NIHR will fund £12 million in total, for around 10 nodes and the coordinating platform hub (to be commissioned separately).

The maximum cost that can be requested from the funders is up to £1.25 million, and we typically fund 80% of the full economic cost.

Generally, your project should be in the range of £800,000 to £1 million, but up to £1.25 million may be considered when justified, for example by the inclusion of projects with higher than typical science costs.

We expect node awards to support a range of varied activities, which should be relevant to the need and allow the identified challenges to be addressed in creative and innovative ways.

Eligible costs

Eligible costs are outlined:

Salary contribution

This includes principal and co-investigator salary costs limited to the time spent developing and directing the node.

Project management

This includes up to 0.5 full time equivalent project manager for node activities, coordination of participants and node events and mandatory liaison with the platform hub and other nodes.

Coordination

This includes costs for node-specific conferences, workshops, training, webinars, patient and public involvement and engagement and public dialogues during the five years. Node activities should not duplicate the expected activities of the platform hub (contact the office to discuss this if needed).

Enabling science

Costs should be based on up to three projects. Each project should have a defined purpose and a duration of usually one to two years, based on need. Projects up to three years in duration may be proposed if the case is compelling, however projects should not normally be competitive for standard response mode support.

For short projects (for example, one year) staff should be named or in post at the point of applying. Second and third projects will be allocated ‘in principle’ funding (with final approval by platform governance structures) and will be expected to be developed and finalised within the funded platform, including other nodes or new partners, and through co-design with stakeholders.

Ineligible costs

You cannot request:

• salary costs for members of the external advisory group
• equipment
• relocation costs
• publication costs
• PhD stipends.

Duration

Funding is available for five years.

How to apply

You must apply using the Joint Electronic Submission (Je-S) system.

You can find advice on completing your application in the Je-S handbook.

We recommend you start your application early.

Your host organisation will also be able to provide advice and guidance.

Submitting your application

Before starting an application, you will need to log in or create an account in Je-S.

When applying:

1. Select ‘documents’, then ‘new document’.
2. Select ‘call search’.
3. To find the opportunity, search for: UK Rare Disease Research Platform – Node Outline.

This will populate:

• council: MRC
• document type: outline proposal
• scheme: standard outline
• call/type/mode: UK Rare Disease Research Platform – Node Outline.

Once you have completed your application, make sure you ‘submit document’.

You can save completed details in Je-S at any time and return to continue your application later.

Deadline

MRC must receive your application by 8 November 2022 at 16:00.

You will not be able to apply after this time. Please leave enough time for your proposal to pass through your organisation’s Je-S submission route before this date.

You should ensure you are aware of and follow any internal institutional deadlines that may be in place.

Node project details

You must complete the following sections.

Project details

You must:

• select the research organisation that will host the node
• select the department
• indicate your reference, for example ‘node and research organisation name’ (maximum of 20 characters, including spaces)
• indicate the title of the node within the project title section (maximum of 150 characters, including spaces)
• select ‘UK Rare Disease Research Platform – Node Outline’
• indicate the proposed start date of the node (should be May or June 2023)
• indicate the duration of the project (should be 60 months).

Principal investigator

Select the proposed node director (principal investigator) from the database search and indicate ‘yes’ or ‘no’  as to whether your post will outlast the project duration.

Co-investigator

Select any individuals who will assist in the management and leadership of the proposed node from the database search, with the expectation of bringing in the right expertise for the proposed domain. This is expected to be two to five, one of whom will act as co-director to assist the node director in the leadership of the node.

Cross-institutional co-investigators are encouraged, although links to other departments within the same higher education institute can be considered where this brings novel connectivity.

Research co-investigator

These are not in scope due to the nature of this opportunity, although early career co-investigators are encouraged where relevant.

Objectives

Specify the key aims for the node, and link these to activities and deliverables in networking. Coordination and enabling research must be outlined in the case for support.

Resource summary

Provide an indication of proposed resource request, taking account of eligible costs.

Summary

Summarise the domain and the node focus, aims, networking opportunity and research challenges that the node will address.

Project partners

Indicate the key node partner name and primary contact person information for each industrial and non-industrial partner who will:

• contribute to the node
• help to deliver the node’s ambitious vision and aims
• support the node’s impact through, for example, the proposed networking and enabling research activities.

There is no requirement to provide letters of support at this outline stage.

Grant type

Ensure that you select ‘research grant’.

Attachments

You must include a mandatory case for support following the guidance.

No other attachments are permitted and will be disregarded if provided.

Case for support

The case for support must not exceed three sides of A4. You must use 11 point Arial font and include the following numbered headings in order, and address the guidance provided.

1. Domain and position in UK landscape

This should be approximately 100 words. You must define the domain and challenge area for the proposed node, and outline its positions within the broader rare disease landscape

2. Vision

This should be approximately 200 words. You must describe how the node activities will:

• take forward a bold and innovative vision for the specified domain
• leverage the opportunities presented by the new platform.

You must briefly outline what difference the node will make to the platform, and how the platform will benefit from this node.

You must outline why the node needs support through the Rare Disease Research Platform investment, rather than through existing funding routes.

3. Node team

This should be approximately 150 words. You must explain why the proposed individuals and research organisations indicated in the Je-S form are best placed to address the aims and objectives of the research node challenge.

You must indicate any relevant existing funding (for the node leader, node co-investigators or node partners) that the node will build upon.

4. Connectivity to existing investments and infrastructure

This should be approximately 150 words. You must outline how the node will connect to existing or planned investments and what connections and partnerships the node will establish. You must map these to key capabilities (including technology, data or sample platforms, research platforms, patient and industry engagement).

You must also outline the added value that will be generated and explain how the node will form part of the national infrastructure for rare disease research.

5. Networking and coordination activities

This should be approximately 300 words. You must summarise the node’s:

• aims
• networking opportunities
• research obstacles or challenges
• key deliverables and outputs to expect over five years.

Details of up to three enabling research projects should be provided in the next section.

6. Enabling research activities: node projects

This should be approximately 600 words, at 200 words per project. You must outline up to three projects that the node would be able to deliver and explain the enabling impact they will have. Projects should have one or two specified deliverables, and should not normally be suitable for funding through response mode routes.

You must include duration, resource needed and any dependencies. You must provide the full economic cost for each project but note that flexibility in the final projects is expected.

You should also indicate how later projects could be co-developed and re-shaped with engagement of other platform members.

Costings

Please include a table indicating how the total costs requested shown in Je-S (at 80% full economic cost) break down across:

• leadership and project management
• coordination activities
• enabling research projects.

Guidance for full applications will follow in November 2022.

How we will assess your application

Nodes will be selected through a two-stage process:

• outline stage: to select competitive ideas and to shape proposals in order to form a cohesive, complementary platform
• full application stage: to decide which nodes will be funded.

In order to ensure the platform achieves impact and provides the optimal coverage and focus to support the wider research community, applicants selected through the outline stage will be encouraged to:

• take stock of the ideas in other selected outlines
• make partnerships or connections where appropriate, potentially leading to evolution of the original submissions.

Assessment criteria

Outline proposals will be assessed by an expert review panel of senior independent academics and appropriate stakeholders in December 2022.

The panel will consider whether the following assessment criteria have been fully, partially or not met:

• identification of a compelling tractable opportunity and a credible and clear case for impact in the identified ‘domain’
• suitability and breadth of the proposed project team
• appropriateness of partners, proposed links (for example to existing investments and infrastructure) and proposed stakeholder engagement, including patient and public involvement and engagement
• proposal of coordination activities that will enable the community and deliver benefits including:
  • effective networking
  • sustained impact (by bringing together an enduring community)
  • competitive funding applications
  • access to infrastructure
  • strategic coordination
• clear identification of projects that are deliverable, with an acceptable level of risk (given the potential for impact) and convincing plans to co-develop the work with partners and the platform.

The panel will ensure a thematic spread and national diversity across the node applications.

If you are successful at the outline stage, you will be invited to the full application stage and asked to attend a pre-submission workshop in early January 2023. All participants will have access to summaries of the outlines selected at this stage.

We reserve the right to invite additional full applications where gaps exist.

We will also publish details of the principal investigator (node leader), the proposal title and summary of your outline application following the workshop. The aim is to provide a refined set of information to ensure the wider community has a view of the developments. This activity will be guided by the expert review panel.

Contact details

Get help with developing your proposal

For help and advice on costings and writing your proposal, please contact your research office in the first instance, allowing sufficient time for your organisation’s submission process.

Ask about this funding opportunity

Rare disease research team

Email: rarediseaseresearch@mrc.ukri.org

Include ‘UK-RDRP Node outline query’ in the subject line.

We aim to respond within five working days.

Get help with applying through Je-S

Email

jeshelp@je-s.ukri.org

Telephone

01793 444164

Opening times

Je-S helpdesk opening times

Additional info

Webinar

MRC and NIHR held an informative webinar to support this funding opportunity on 7 September 2022 at 14:00.

View the webinar slides (PDF, 428KB).

We are establishing an integrated UK Rare Disease Research Platform that will connect the full spectrum of basic, clinical and translational research to the many stakeholders, including patients, industry and practitioners.

The platform will consist of multiple challenge-led, interdisciplinary research nodes, linked through a coordinating platform hub. The platform hub will connect the nodes, providing a well signposted route to external collaborators, including industry and international partners, as well as efficient delivery of annual meetings and workshops to enhance the nodes.

Why we are establishing a Rare Disease Research Platform

The platform will align to and help deliver the UK Rare Disease Framework, in particular the ‘pioneering research’ theme. Although rare diseases may be individually rare, affecting fewer than one in 2,000 people, they are collectively common, with one in 17 people being affected by a rare disease at some point in their lives.

Due to the number and variety of diseases involved, rare disease research is distributed across the UK. While there are many UK centres of excellence, there is an opportunity to deliver progress in rare disease research by bringing UK research groups and centres closer together to form a ‘critical mass’ with links to patients, industry and a full range of stakeholders in research, ethics, policy and beyond.

Aims of the platform

The aims are to:

• provide networking across the UK, to:
  • bring together all relevant researchers and stakeholders to provide greater coordination and cohesion to UK rare disease research
  • establish an open and evolving structure that engages new partners over time and supports new interdisciplinary and multi-site partnerships
  • provide a single and accessible entry point for stakeholders including industry and international partners, to attract interest and investment in UK rare disease research
  • strengthen links with, and maximise the value, of existing UK networks, major investments (supported by MRC, NIHR and others) and expertise in, for example genomics, advanced therapeutics, precision and experimental medicine by raising awareness, facilitating access and underpinning collaborations
• enable research by:
  • delivering a number of impactful focused projects that identify and solve challenges, remove obstacles, establish new paradigms and approaches across multiple or groups of rare diseases
  • learning from existing examples of success and sharing approaches, data and methods in order to deliver patient impact at the widest scale possible, in ways that address health and geographical inequalities
  • strengthening the cohesiveness and strategic preparedness of the sector.

Nodes within the platform will:

• network a UK-wide team of researchers and stakeholders in a defined domain within the rare disease research field
• host several focused projects with clear deliverables that remove blockers and enable research progress within their domain.

Node management and governance

Each node should be led by a management team with a director (who must be the principal investigator of the application) and a co-director (who must be one of the application co-investigators). The principal and co-investigator should all be involved in the management of the node and should have defined roles.

The node must fully participate in and be fully engaged with the overall platform and its governance structures, with additional detail to be provided as part of the full guidance, including additional terms and conditions.

A midterm review will be conducted to monitor progress. Each node must also establish a suitable governance structure and plans to ensure that the node delivers against its plans and ambitions. This should include how research ethics governance will be managed.

Platform hub

A single, integrated platform hub will be critical to the formation of a cohesive platform and will provide visibility to the external community and cross-node coordination. The funders intend to commission the platform hub function from a suitable delivery partner and a budget of £100,000 to £150,000 per year is envisaged.

The platform hub will:

• provide a full-time project manager for the platform and a part-time engagement post
• connect all the funded nodes together and coordinate a diffuse and varied community, including linking researchers and groups with the expertise and experience to form interdisciplinary teams and conceive and deliver novel and impactful projects
• provide a single web presence for the platform (including the nodes and projects)
• act as a single focal point for all stakeholders and external audiences
• deliver annual meetings and events, including:
  • an annual conference for all participants and stakeholders, open to all attendees
  • regular thematic workshops, aligned to the interests of nodes as well as other platform interests. For example for training purposes, developing and sharing best practice and standards, development of strategy and funding proposals
• deliver administrative meetings (for example, for platform management and direction, meetings of all nodes) and support for an independent scientific advisory board including overseas members
• coordinate stakeholder engagement, including:
  • developing best practice and providing training for patient and public involvement and engagement
  • provision of an interface that enables the patient community to express their voice
• link the network and nodes to existing relevant activities,including existing rare disease networks, groupings, platforms and other relevant investments. For example:
  • the NIHR Biomedical Research Centres and BioResource
  • MRC units and institutes
  • National Mouse Genetics Network
  • Nucleic Acid Therapy Accelerator
  • Innovate UK Catapults
• facilitate coordinated engagement of the platform with cross-cutting policy, ethics and regulatory issues
• record and report the activity and impact of the platform and nodes.

Population and Systems Medicine Board

Research project applications in rare diseases may be eligible to any of the MRC response mode boards or panels. To see the board opportunity in rare diseases, see the Population and Systems Medicine Board page.

Supporting documents

Frequently asked questions (PDF, 190KB)