Gianna is an associate editor of The American Journal of Managed Care® (AJMC®). She has been working on AJMC® since 2019 and has a BA in philosophy and journalism & professional writing from The College of New Jersey.
Using the new data initiative, researchers hope to diagnose unsolved cases of rare diseases.
In a series of papers and case reports published in the European Journal of Human Genetics, researchers detailed the first results of Solve-RD, a collaboration aimed at diagnosing individuals living with unsolved cases of rare diseases in Europe.
The impetus behind the partnership is the notion that repeated, periodic analyses of genomic and phenotypic data from individuals with rare diseases can help increase the chances of diagnosis when used in conjunction with data sharing, according to a statement.
The consortium consists of over 300 researchers and clinicians in more than 15 countries who hope to one day diagnose more than 19,000 unsolved cases of rare disease with an unknown molecular cause.
Thus far, one preliminary reanalysis of data from nearly 8400 individuals yielded 255 new diagnoses, some of which were atypical manifestations of known diseases. However, estimates put the number of individuals affected by rare disease in Europe at around 30 million.
“Solve-RD has shown that it is possible to securely share large amounts of genomics data internationally for the benefit of the patients,” said Sergi Beltran, PhD, coleader of Solve-RD data analysis and head of the Bioinformatics Unit at Centro Nacional de Analisis Genomico, part of the Centre for Genomic Regulation, in Barcelona, Spain.
This center hosts the RD-Connect Genome-Phenome Analysis Platform, which provides authorized individuals with secure access to patients’ pseudonymized genomic data and clinical information.
“The work we are publishing today is just the tip of the iceberg, since many more patients are being diagnosed thanks to the innovative methods developed and applied within Solve-RD,” Beltran said.
Although more than 70% of rare diseases have a genetic cause, approximately 50% of these patients go undiagnosed even in clinical settings that use genome sequencing.
One paper published in the series describes the 2 major approaches pursued by the collaboration: massive data reanalysis of more than 19,000 unsolved rare disease patients and novel combined -omics approaches.
Solve-RD consists of 4 cohorts including unsolved cases, specific European Reference Network (ERN) cohorts, ultra-rare rare diseases, and the unsolvables. In addition, as the collaboration’s strategy “relies on the availability of large amounts of good quality, standardized genomic and phenotypic data and metadata from undiagnosed RD patients and their relatives,” the data shared are regulated by policy documents.
The initiative is also developing a cloud-based computing cluster for collaborative analysis and methods testing, while a central database will be used to control and view all the project’s data.
“It is the vision of Solve-RD that, by the end of the project, the Solve-RD dataset will be the largest well-annotated, standardized, multi-omics RD dataset on the diseases covered by the 4 core ERNs,” authors concluded.
Zurek B, Ellwanger K, Vissers LELM, et al. Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases. Eur J Hum Genet. Published online June 1, 2021. doi:10.1038/s41431-021-00859-0