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Rare Diseases
Translational Research Collaboration
NIHR Rare Diseases Translational Research Collaboration (RD-TRC)
Funding Request for In-Depth Phenotyping Project Funding
Expression of Interest
Research context: overarching aims of the RD-TRC:
Over 7% of the UK population are affected by one of >5000 different rare diseases, with ~80% being single gene
disorders. However, each specific disease is rare, and affects <5 in 10,000 of the population. It is estimated that
~80% of rare diseases are caused by a single gene defect. The overall goal of the RD-TRC is to support in-depth
phenotyping of patients with rare diseases, and correlate this to genomic data to provide greater understanding of
rare diseases.
Whilst the focus of the RD-TRC is on in-depth pheno-typing, a number of resources are available for acquiring
genomic data, including the infrastructure and sequencing capacity provided by the NIHR BioResource – Rare
Diseases and Genomics England Ltd. The RD-TRC aims to work with themes to ensure the opportunities for
sequencing are fully utilised to exploit synergies across the infrastructure for rare diseases research.
The RD_TRC will support in-depth phenotyping research within a number of themes, each led by a lead within a
NIHR BRC / BRU / CRF:
Cancer:
Cardiovascular:
Dementia & Neurodegen.:
Eye Disease:
Gastrointestinal:
Immunological Disorders:
Metabolism:
Musculoskeletal Disorders:
Neuromuscular Disorders:
Non-Malignant Haematology:
Paediatric (Cross-Cutting):
Renal Disease:
Respiratory Disease:
Skin:
Prof. Stan Kaye
Prof. Hugh Watkins
Prof. Nicholas Wood
Prof. Anthony Moore
Prof. David Jones
Prof. Adrian Thrasher
Prof. Stephen O’Rahilly
Prof. Bryan Paul Wordsworth
Prof. Michael Hanna
Prof. Irene Roberts
Prof. Timothy Barrett
Prof. Fiona Karet
Prof. Eric Alton
Prof. John McGrath
NIHR Royal Marsden BRC
NIHR Oxford BRC
NIHR UCLH BRC
NIHR Moorfields BRC
NIHR Newcastle BRC
NIHR GOSH BRC
NIHR Cambridge BRC
NIHR Oxford MSK BRU
NIHR UCLH BRC
NIHR Oxford BRC
NIHR/Wellcome Trust Birmingham CRF
NIHR Cambridge BRC
NIHR Royal Brompton Respiratory BRU
NIHR GSST BRC
Criteria for support of in-depth phenotyping of a RD-TRC cohort:
The RD-TRC will provide funding to allow in depth phenotyping for specific rare diseases based on the following
criteria:

Application endorsed by a NIHR BRC/ BRU or NIHR CRF Director. Any funding awarded will be
administered through a variation to a NIHR BRC / BRU / CRF contract.

A named lead investigator who has a world-leading track record in rare disease translational research.

A clearly articulated, important translational research question with the potential to have impact within 4
years.

Evidence from prior knowledge that the research has the potential to advance diagnosis or therapy.

Evidence of appropriate existing local clinical infrastructure.
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
Commitment from the lead investigator to develop and use common documentation for consent and
information, and to information exchange.

The RD-TRC recognises the importance of working with industry in order to successfully deliver health
research, development and innovation, and has a strong focus on supporting activity that will foster
relationships with industry.
Process
Prospective Investigators are asked to link with the relevant Theme Lead for an initial assessment of their EoI.
The Theme Lead, working with the national groups they have established in their rare disease research area, will
prioritise up to 4 EoI to be submitted as part of their Theme to the RD-TRC for review by Noon 18th July 2014.
Theme Leads will score all submitted EoI and make recommendations to the RD-TRC Co-Chairs as to which
EoIs should be invited to submit a full application with detailed costs and a prospective data plan. Deadline for full
applications will be the noon 31st October 2014.
The process will be iterative and the Themes will work with applicants to ensure their proposals have the greatest
possible chance of success at the full application process. Please note that short listing does not guarantee that
funding will be awarded.
Funding Types
The RD-TRC will provide project funding for in-depth phenotyping research, typically supporting appropriate
research costs including personnel and consumables. Progress against milestones will be reviewed, and failure
to progress the project to agreed milestones without satisfactory explanation would lead to withdrawal of funding.
The purpose of this EoI is to identify areas of innovation and opportunity that will translate advances in research
into patient benefit. There is no prescribed format and we encourage a diverse range of activity. We are
particularly interested in proposals that have identified a partner in industry. If you feel that you can make a
significant contribution to the aims of the RD-TRC with regard to in-depth phenotyping, and you have an identified
research and/or collaborative opportunity then the RD-TRC would encourage your submission. Applications that
build on and extend projects that are currently funded by the RD-TRC will also be considered. Awards of up to
£100,000 per annum over two year maximum, will be available starting the 1st April 2015.
Please note the RD-TRC will not fund capital equipment, equipment service contracts and animal work of any
description. Indirect NHS costs may be included, though not indirect University costs. NHS Support Costs
should be recovered from your BRC / BRU / CRF, or where sites are not linked to these, via the NIHR Clinical
Research Network.
The RD-TRC does not provide funding for genomic studies, but would encourage investigators to seek support
from other sources, including NIHR supported infrastructure.
Costing: Approximate cost is required at this stage; however funding will only be awarded once a detailed
breakdown has been submitted along with the full application.
Submission: Expressions of Interest should be discussed with the relevant Theme Leads. Theme Leads are
requested to submit up to four EoIs for their Theme to: [email protected] by noon, 18th July 2014.
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NIHR Rare Diseases TRC – Currently funded disease areas
Cancer
• Multiple Endocrine Neoplasia Type 1 (MEN1) and Pancreatic Neuroendocrine Tumours (NETs)
Cardiovascular
• Idiopathic and heritable pulmonary arterial hypertension
• Sarcomeric cardiomyopathy
• Hereditary and Idiopathic Pulmonary Arterial Hypertension
Dementia & Neurodegenerative (UCLH BRC)
• Autosomal Dominant Parkinson's disease
• Motor neuron disease (MND)
• Genetic frontotemporal dementia
Eye Disease
• Stargardt disease
• Inherited optic neuropathies
• Retinal pigment epithelium
Gastrointestinal
• Autoimmune Hepatitis (AIH): The UK-AIH Cohort
• Rare Autoimmune Liver Disease (AILD)
• Primary Biliary Cirrhosis
Immunological Disorders
• Common Variable Immunodeficiency (CVID)
• Definition Juvenile dermatomyositis (JDM)
Metabolism
• Lysosomal Storage Diseases
• Segmental Overgrowth due to Mosaicism for Mutations Activating Phosphatidylinositol-3-Kinase
Signalling
Musculoskeletal Disorders
• Osteogenesis imperfecta type 1, 3 and 4
Neuromuscular Disorders
• Inclusion Body Myositis (IBM)
• Duchenne muscular dystrophy
• Skeletal muscle and peripheral nerve channelopathies
• Inclusion Body Myositis (IBM)
Respiratory Disease
• Alpha-1 Antitrypsin Deficiency (AAT)
• Cystic fibrosis (CF)
Skin
•
•
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Autosomal Recessive Congenital Ichthyosis (ARCI)
Frontal Fibrosing Alopecia
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Paediatric Cross Cutting
• Ciliopathies; Bardet-Biedl Syndrome and Alstrom Syndrome
• Congenital Hyperinsulinism (CHI)
• Steroid Resistant Nephrotic Syndrome (SRNS)
• childhood overgrowth disorders
Non-Malignant Haematology Disorders (NMHD)
• Paediatric Myelodysplastic Syndromes
Renal
• IgA nephropathy
• chronic kidney disease (CKD) in pregnancy
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RD-TRC
Expression of Interest
RD-TRC Reference: ........................... (admin use only)
Principal Investigator
Name.................................................
E-mail................................................
BRC / BRU / CRF....................................
………………………………………………………………………….
Full Title of Study
Alternative ‘Short’ Title (no more than 20 characters)
Please indicate one major theme and any related themes that your project aligns to
Theme(s)
Patient Group to be studied
Sample Size
Proposed start date
Proposed end date
Related Theme(s)
Research Summary (not more than 200 words)
Please provide a summary of your project and the research question it will address
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Track Record and opportunities to link this work with Industry if appropriate (not more than
100 words)
Please provide a summary of any experience of working with industry
Evidence of Public and Patient Engagement (not more than 100 words)
Resource (funding) Requested (Approximate annual costs)
Signature Applicant
Signature Theme Lead
Signature BRC/BRU/CRF Director
Name:
Name:
Name:
Date:
Date:
Date:
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