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Realizing the Promise of
Precision Medicine
IN 2005 , THE MMRF TOOK a progressive approach of spearheading novel genomics research in myeloma with the creation of the Multiple Myeloma Genomics Initiative ( MMGI ), along with the Broad Institute of MIT and the Translational Genomics Institute ( TGen ). The goal of sequencing the multiple myeloma genome from banked patient samples collected by the Multiple Myeloma Research Consortium ( MMRC ) came to fruition with the MMRF ’ s publication of the first multiple myeloma genome sequence in 2011 .
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Identifying BRAF mutations
This 2011 publication focused on the sequence analysis of 38 multiple myeloma genetic mutations — including the discovery of the V600E mutation in the BRAF gene . These BRAF mutations had been successfully treated with targeted therapies in other cancers , such as melanoma . These results have now prompted the investigation of the use of these targeted therapies for multiple myeloma patients with the BRAF mutation .
From sequencing to tailored treatment
In 2012 , a small , early-phase clinical trial was conducted to study a BRAF-targeted therapy , vemurafenib , in myeloma patients with BRAF V600E mutations . Today Phase 2 trials are ongoing to discover if we can more effectively block mutant BRAF and the molecular pathway that is part of this gene . The MMRC has opened a new trial designed to test two different drugs targeting this pathway in patients carrying BRAF mutations . The hope is that this drug combination will be more effective and active against BRAF mutant myeloma .
The sequencing of 203 myeloma genomes along with data from over 1,000 patients in the MMRF CoMMpass Study has identified additional mutations that could serve as drug targets . Mutations in the FGFR3 gene that were identified through sequencing will be targeted with a specific drug in an upcoming MMRC trial . These initiatives offer the possibility of tailored , personalized treatments based on the genomics of a patient ’ s myeloma cells .
The MMRF has played a key role and had a profound impact on the
16 implementation of precision medicine . Our initiatives have included sequencing the first genome , identifying gene mutations that can be targeted with a specific drug , and conducting studies to determine clinical efficacy — the realization of precision medicine is giving great hopes for patients — and moving us closer to a cure .
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To learn more about the MMRF ' s Precision Medicine Initiative , visit :
themmrf . org / precision-medicine .
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ACCELERATOR • WINTER 2016 7