The IgCaller Software is a bioinformatics tool capable of detecting the genomic alterations that make different types of leukemia, such as chronic lymphocytic leukemia (CLL) or lymphomas, more aggressive. The tool was developed and validated by a team of researchers led by Elías Campo, director of IDIBAPS, head of the Molecular Pathology in Lymphoid Neoplasms group and CIBERONC researcher, within the health call of the "la Caixa" Foundation. In 2020, Nature Communications published the algorithm in a study that Ferran Nadeu, a researcher in Campo’s group, signed as first author.
In order to advance progress for CLL research through the use of genomic analysis, IDIBAPS has joined SOPHiA GENETICS, and Diagnóstica Longwood to license the IgCaller Software in Iberia. SOPHiA GENETICS is a healthcare technology company, creator of the SOPHiA DDM™ Platform, capable of analyzing data and generating insights from complex multimodal data sets and different diagnostic modalities; while Diagnóstica Longwood is a company specialized in molecular diagnostics.
This project unites the strengths of the SOPHiA DDM Platform with IDIBAPS’ IgCaller software and the expertise of the teams from Diagnóstica Longwood. Their new integrative solution will bring together guidelines for the mutational status of TP53, immunoglobulin (IG) gene rearrangements and their somatic hypermutation status. Users will also benefit from the identification of additional relevant biomarkers including NOTCH1, SF3B1, ATM, IGLV3-21, BTK, PLCG2, BCL2, del13q14, and trisomy 12.
Dolors Colomer, leader of the Hematopathology Section at Hospital Clínic and of the IDIBAPS Experimental Therapies in Lymphoid Neoplasms group and CIBERONC researcher, who has co-led the design and validation of the new solution, has also participated in this innovation. "It is the tool we have been waiting for. It allows us to perform in a single assay the analysis of TP53 mutations and somatic hypermutations of immunoglobulin, in addition to being able to identify other biomarkers. It has been an immense pleasure to participate in this project and to see it become a reality," says Colomer.
“We are proud to work together with some of the most elite experts in the field all around the world. This partnership is a great example of how combining advanced technologies, experience, and emerging strategies can move the possibilities of genomic medicine forward”, declared Jurgi Cambling, CEO and cofounder of SOPHiA GENETICS. He hopes the project will aid the biopharma industry with machine learning tools that better identify new molecular insights, informing treatment options through more efficient technology.
On his part, Campo and Nadeu, are satisfied with the partnership. “Thanks to our collaboration with SOPHiA GENETICS and Diagnóstica Longwood we will be able to transfer into clinical practice the relevant information generated for so many years in the research of CLL using a simple and robust assay that will assist in management decisions”, declared Campo. “It has been an amazing experience to bring an algorithm developed in the research setting into a commercial product. We believe this partnership will facilitate the use of our development to researchers and diagnostic units world-wide. We would like to thank all the people that contributed to the success of this journey”, concluded Nadeu.