The University of Maryland Medical Center Chooses SOPHiA GENETICS Technology
April 18 2023 - 9:00AM
Business Wire
SOPHiA GENETICS supports The University of
Maryland Medical Center to advance their rare disease research
SOPHiA GENETICS (Nasdaq: SOPH), a cloud-native software company
in the healthcare space and a leader in data-driven medicine, today
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.
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.
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.
For more information on SOPHiA GENETICS, visit
SOPHiAGENETICS.COM, or connect on Twitter, LinkedIn,
Facebook, and Instagram.
About SOPHiA GENETICS
SOPHiA GENETICS (Nasdaq: SOPH) is a cloud-native software
company in the healthcare space dedicated to establishing the
practice of data-driven medicine as the standard of care and for
life sciences research. It is the creator of the SOPHiA DDM™
Platform, a cloud-native platform capable of analyzing data and
generating insights from complex multimodal data sets and different
diagnostic modalities. The SOPHiA DDM™ Platform and related
solutions, products and services are currently used by a broad
global network of hospitals, academic centers, laboratories and
biopharma institutions. For more information, visit
SOPHiAGENETICS.COM, or connect on Twitter, LinkedIn,
Facebook, and Instagram. Where others see data, we see
answers.
SOPHiA GENETICS products are for Research Use Only and not for
use in diagnostic procedures, unless specified otherwise. The
information in this press release is about products that may or may
not be available in different countries and, if applicable, may or
may not have received approval or market clearance by a
governmental regulatory body for different indications for use.
Please contact support@sophiagenetics.com to obtain the appropriate
product information for your country of residence.
SOPHiA GENETICS Forward-Looking Statements:
This press release contains statements that constitute
forward-looking statements. All statements other than statements of
historical facts contained in this press release, including
statements regarding our future results of operations and financial
position, business strategy, products, and technology, as well as
plans and objectives of management for future operations, are
forward-looking statements. Forward-looking statements are based on
our management’s beliefs and assumptions and on information
currently available to our management. Such statements are subject
to risks and uncertainties, and actual results may differ
materially from those expressed or implied in the forward-looking
statements due to various factors, including those described in our
filings with the U.S. Securities and Exchange Commission. No
assurance can be given that such future results will be achieved.
Such forward-looking statements contained in this press release
speak only as of the date hereof. We expressly disclaim any
obligation or undertaking to update these forward-looking
statements contained in this press release to reflect any change in
our expectations or any change in events, conditions, or
circumstances on which such statements are based, unless required
to do so by applicable law. No representations or warranties
(expressed or implied) are made about the accuracy of any such
forward-looking statements.
1 https://rarediseases.info.nih.gov/
2
https://www.sophiagenetics.com/clinical/rare-and-inherited-diseases/rare-diseases/
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version on businesswire.com: https://www.businesswire.com/news/home/20230418005140/en/
Media: Nick Puleo npuleo@comsint.com
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