SOLVE-RD
Research type
Research Study
Full title
Solving The Unsolved Rare Diseases
IRAS ID
237638
Contact name
Siddharth Banka
Contact email
Sponsor organisation
Manchester University NHS Foundation Trust
Clinicaltrials.gov Identifier
Proposal, H2020-CP-2016
Duration of Study in the UK
5 years, 0 months, 0 days
Research summary
Research Summary
We plan to add this study to the Musketeers memorandum in order to roll it out across other sites as a multi-centre study. The Musketeers’ Memorandum allows one UK genetics unit to set-up a rare disease project which can then be delivered at regional genetics centres across the country.Rare diseases are individually rare but collectively frequent, affecting the lives of 25 million people in Europe. The
majority have a genetic basis. Approximately 8% of born children have a genetic disorder recognisable by early
adulthood. These disorders cause a variety of medical problems and are associated with high morbidity, mortality, and economic burden. The time to diagnosis often takes years and the initial diagnosis is incorrect in up to 40% of families. Many families await a firm diagnosis before planning further children so that recurrence risks can be clarified. Genetic confirmation of diagnosis of these conditions is needed, therefore, but is only possible in fewer than half of all cases. We require methods and strategies to identify the causes of disease in this “unsolved” group of patients.Solve-RD will achieve its outcome by bringing together world experts on gene identification and leading
bioinformaticians to identify currently unknown ultra-rare diseases. There are many new rare disease genes to be
discovered and the study will contribute to worldwide efforts to find these. Current knowledge suggests that a huge number of diseases are caused by genetic changes which are either not in the genes themselves or are difficult to detect using current techniques. SOLVE-RD will look closer at existing genetic data for the answers and employ new techniques to find them.In addition to improvement of diagnostic yield, the anticipated discovery of novel disease mechanisms will help us to understand how diseases come about and possibly provide clues to pathways or drugs we can use to treat them. Alongside the genetic studies we will work with patients to explore how best to communicate important but complex genetic information in the clinic.
Summary of results
The diagnosis and treatment of rare diseases is still highly unsatisfactory for a large proportion of patients. This project was put together to make substantial progress in diagnosis of unsolved rare diseases. This was done by bringing together an advanced and diagnostic research infrastructure and a critical mass of expertise and unique research cohorts. Solve-RD tackled three main challenges: 1) Accessibility of unsolved rare disease cohorts with comprehensive genetic and clinical data; 2) New and improved approaches for the discovery of novel molecular causes; 3) Translate discoveries to patients' live and clinical practice. The main take home results are - (1) demonstrating the importance of re-analysis of genomic data in achieving diagnosis for patients; (2) development of several novel approaches for data analysis; (3) discovery of several new genetic disorders; (4) Improving mechanistic understanding of several genetic conditions; (5) testing novel technologies such as longread sequencing in the context rare genetic disease diagnostics.REC name
Wales REC 5
REC reference
18/WA/0249
Date of REC Opinion
5 Sep 2018
REC opinion
Further Information Favourable Opinion