Universidad de Costa Rica is live on SOPHiA GENETICS’ technology
Boston, MA and Rolle, Switzerland, March 6, 2024 – SOPHiA GENETICS (Nasdaq: SOPH), a cloud-native software company in the healthcare space and a leader in data-driven medicine, today announced that Universidad de Costa Rica El Centro de Investigación en Cirugía y Cáncer (CICICA) is now live on the SOPHiA DDM™ Platform. The Surgery and Cancer Research Center is using SOPHiA GENETICS to expand its ability to trace, diagnose, and treat rare and inherited diseases among Costa Ricans.
CICICA was created in December 2021 and is an interdisciplinary and transdisciplinary academic unit dedicated to cancer research, early detection, and diagnosis. CICICA also focuses on developing specialized skills in minimally invasive surgery techniques, clinical and molecular diagnosis, and comprehensive care of patients with cancer. The implementation of the SOPHiA DDM™ Platform has enabled CICICA to expand its genetic services, enabling the increased use of precision-based medicine for rare and inherited diseases.
“As an academic institution, CICICA continuously strives to use the latest advancements in science and technology to further our work,” said Ricardo Chinchilla Monge, Universidad de Costa Rica El Centro de Investigación en Cirugía y Cáncer “The implementation of SOPHiA GENETICS’ technology allows us to offer new services and capabilities that will progress our work in the area of rare and inherited diseases, and benefit the Costa Rican population.”
Rare diseases are estimated to affect roughly 4 percent of the global population; research shows there are roughly 6,000 different rare diseases of which, 72 percent are genetic. The ability to both identify a rare or inherited disease and develop a personalized treatment plan is paramount to providing care for the millions of patients who are impacted by such diseases.
Next-generation sequencing (NGS) of the human exome (also called whole-exome sequencing) is a reliable and cost-effective way to help detect and identify rare diseases; however, it produces vast and complex genomic data sets. The SOPHiA DDM™ Platform uses Artificial Intelligence (AI) and machine learning with patented technologies to analyze and interpret raw NGS data, providing fast and accurate results to clinician researchers.
“We are passionate at SOPHiA GENETICS about helping people across the globe benefit from precision medicine, and this is made possible through cutting-edge, AI-based solutions and technologies like the SOPHiA DDM™ Platform,” said Ricardo Mendonca Filho, PhD., Managing Director, LAPAC, SOPHiA GENETICS. “We are proud to be working with CICICA to help expand its offerings and advance its research of the rare diseases that are affecting the Costa Rican population.”
The SOPHiA DDM™ Platform is designed to compute a wide array of genomic variants and continually hone machine learning algorithms to detect rare and challenging cases. With SOPHiA GENETICS’ sophisticated technology, CICICA will deepen its in-house knowledge, making it faster to identify and categorize these diseases.
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About SOPHiA GENETICS
SOPHiA GENETICS (Nasdaq: SOPH) is a software company dedicated to establishing the practice of data-driven medicine as the standard of care 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 network of hospital, laboratory, and biopharma institutions globally. For more information, visit SOPHiAGENETICS.COM, or connect on X, LinkedIn,Facebook, and Instagram. Where others see data, we see answers.
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