SOPHiA GENETICS supports The University of Maryland Medical Center to advance their rare disease research
SOPHiA GENETICS, a cloud-native software company in the healthcare space and a leader in data-driven medicine, announced that the University of Maryland Medical Center (UMMC) is using SOPHiA GENETICS technology to enhance their capabilities around rare disease detection and treatment. UMMC has chosen SOPHiA Whole Exome Solution v2, a next-generation sequencing (NGS)-based application that provides a streamlined end-to-end workflow, to accelerate its rare and inherited disease research.
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“The identification of rare diseases is complex, timely and costly. Our technology is designed to ease the burden for researchers and allow them to more thoroughly and quickly analyze complex datasets, benefitting the rare disease community as a whole.”
Rare diseases are estimated to affect over 30 million people in the United States, with more than 10,000 genetic and rare diseases currently known.1 NGS of the human exome analyzes exons, the protein-coding regions of the human genome, and has the potential to help detect and identify rare diseases. While whole-exome sequencing is reliable and cost-effective, it produces vast and complex genomic data sets. The SOPHiA Whole Exome Solution™ v2 is designed to aid users in sorting and analyzing these complex data sets.
The implementation of SOPHiA Whole Exome Solution ™ v2 will support UMMC’s work in furthering research of the rare diseases that are affecting millions of people each year. In addition, the technology will allow UMMC to deepen its in-house knowledge, making it faster for researchers to identify and categorize rare diseases.
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The SOPHiA Whole Exome Solution™ v2 targets nuclear genes and the full mitochondrial genome. Coupled with the SOPHiA DDM™ Platform, the solution uses artificial intelligence and machine learning to analyze and interpret the data, increasing efficiency for researchers.
“UMMC’s implementation of SOPHiA Whole Exome Solution™ v2 will help to further our work at SOPHiA GENETICS to make data-driven medicine more accessible for patients worldwide,” said Ken Freedman, Chief Revenue Officer, SOPHiA GENETICS. “The identification of rare diseases is complex, timely and costly. Our technology is designed to ease the burden for researchers and allow them to more thoroughly and quickly analyze complex datasets, benefitting the rare disease community as a whole.”
As part of their research, UMMC will work to characterize the genetic basis of inherited rare disorders, including mitochondrial variants. Mutations in mitochondrial DNA (mtDNA) cause a diverse range of diseases affecting a substantial portion of the rare disease community.2 NGS of the mitochondrial genome, alongside the exome, is therefore valuable in rare disease research. SOPHiA DDM™ Platform’s sophisticated algorithms will help to address the unique challenges associated with the mitochondrial genome and further expedite the work of researchers at UMMC.
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