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SOPHiA GENETICS is proud to participate in the Congreso Latinoamericano de Patología 2025, taking place in Santiago, Chile.
📍 Visit us at Booth S5
Our team will be on-site to showcase how SOPHiA GENETICS is transforming pathology and laboratory medicine with data-driven insights. Explore our latest innovations across Liquid Biopsy, Solid Tumors, Hematologic Malignancies, and more—empowering clinicians and researchers to advance precision medicine in Latin America.
We look forward to connecting with the pathology community in Santiago and sharing how our technology is shaping the future of healthcare.
Hosted by: SOPHiA GENETICS
Presented by: Alexandre Harlé
Professor of of Biopathology, Head of Precision Medicine and Translational Research Service, Institut de Cancérologie de Lorraine (ICL), France
As precision oncology advances, clinicians and researchers require solid tumor profiling tools that go beyond traditional approaches. While most next-generation sequencing (NGS) solutions rely on DNA as input, RNA sequencing provides unique molecular insights that can inform decision making, particularly from detecting gene fusions, exon skipping, and changes in gene expression. However, practical barriers such as limited tissue availability, complex workflows, and time-consuming interpretation can challenge laboratories implementing RNA sequencing.
In this webinar, Alexandre Harlé, professor and hospital practitioner, will provide an in-depth look at expertly designed RNA NGS solutions for advanced variant detection from solid tumors, including lung and sarcoma. Harlé will share his experience of co-developing and implementing in-house, sample-to-report solutions that address the current and future needs of the Cancer Institute of Lorraine in Nancy, France.
Learning objectives:
Discover the robust analytical performance of an innovative RNA technology that detects novel (partner-agnostic) gene fusions — even when fusion partners are unknown — as well as exon skipping events and gene expression changes from small input amounts. Explore how decentralized sample-to-report workflows with fully integrated analysis, interpretation, and reporting features help accelerate turnaround times and improve operational efficiency.
Understand the value of combining targeted RNA and DNA insights to capture a more comprehensive molecular picture to support informed decision-making.
Speaker Bio:
Professor Alexandre Harlé leads the Precision Medicine and Translational Research group at the Institut de Cancérologie de Lorraine (ICL), France. His research focuses on integrating RNA sequencing and liquid biopsy approaches to better understand tumor biology and improve patient care. He has contributed to collaborative efforts developing RNA-based signatures, such as GemPred, for predicting chemotherapy response in pancreatic cancer. His team is also involved in national studies exploring circulating tumor DNA (ctDNA) for minimal residual disease detection and longitudinal monitoring. Combining clinical expertise with advanced molecular techniques, Harlé’s work aims to support the implementation of precision oncology in routine practice.
Dr. Hemad Yasaei, Head of Molecular Genomics, National Reference Laboratory (NRL), Abu Dhabi
Comprehensive genomic profiling (CGP) of solid tumors has become an essential tool in guiding precision medicine approaches. As cancer research advances, clinical laboratories require fast, scalable, and accurate CGP technologies to detect both known and emerging biomarkers with confidence.
Through the decentralized and technology-agnostic SOPHiA DDM™ Platform, institutions worldwide can now benefit from MSK-IMPACT®, Memorial Sloan Kettering Cancer Center’s best-in-class CGP application. This innovative solution leverages matched tumor-normal sequencing to reveal variants of true somatic origin, delivering highly accurate research insights.
Join Dr. Hemad Yasaei, Head of Molecular Genomics at National Reference Laboratory, UAE, as he shares his experience of:
Speaker:
Cristovam Scapulatempo Neto, MD, PhD - Medical Director of Pathology and Genetics, Diagnósticos da América S.A.
Comprehensive genomic profiling (CGP) is transforming precision oncology by enabling more precise and personalized cancer care. However, as demand for testing grows, many clinical laboratories face significant operational hurdles—from fragmented and rigid analysis workflows to long turnaround times. Decentralized testing enables laboratories to perform large-scale molecular analysis in-house, retain full control of their data, and streamline workflows to accelerate time to results.
In this Inside Precision Medicine webinar, Cristovam Scapulatempo Neto, MD, PhD, will explore how a decentralized, tech-agnostic approach can help laboratories expand their CGP capabilities. Using SOPHiA DDM™ for CGP by SOPHiA GENETICS as an example, he will discuss how this advanced analytical solution, which is designed to be compatible with a wide range of sequencing platforms, helps laboratories streamline processes and scale testing without compromising accuracy. The webinar will provide insights into what the solution offers, including:
Comprehensive genomic profiling (CGP) using a matched tumor-normal approach can help improve somatic detection rate and streamline interpretation.
MSK-IMPACT® powered with SOPHiA DDM™ is a CGP solution that leverages matched tumor-normal sequencing to filter germline variants and may also identify clonal hematopoietic variants, revealing mutations of true somatic origin. The end-to-end application combines the clinical expertise of Memorial Sloan Kettering Cancer Center (MSK) with the robust analytics of SOPHiA DDM™.
Join us and MSK to:
MSK-IMPACT is a targeted tissue-based sequencing test for comprehensive genomic profiling. MSK-ACCESS is a liquid biopsy test that enables non-invasive profiling and longitudinal disease monitoring. Together, they provide robust insights that help guide treatment decisions for improved outcomes in patients with advanced cancer. Unlike most tests, MSK leverages matched tumor-normal sequencing to remove germline and clonal hematopoietic variants, revealing genomic alterations of true somatic origin.
In this webinar, A. Rose Brannon, director of clinical bioinformatics at MSK, and Anita S. Bowman, associate director of clinical bioinformatics at MSK, will:
We are thrilled to announce our participation in the ESMO Asia Congress 2024!
Join the SOPHiA GENETICS team at booth #E406 and explore how we are driving groundbreaking innovations in cancer research and treatment.
From our collaboration with Memorial Sloan Kettering cancer Center to decentralize MSK-ACCESS and MSK-IMPACT, to our launch of SOPHiA DDM™ Residual Acute Myeloid (RAM) Solution, we are committed to supporting clinical researchers with variant detection and analysis, biomarker discovery, and therapy selection.
We look forward to connecting with you at ESMO Asia 2024!
9 September 10:00-10:20
Presented by
Alexander Yarunin, PhD
Director, Scientific Affairs for Global Oncology Diagnostics - AstraZeneca
Verena Schramm, MS
VP, Product Management - SOPHiA GENETICS
ADD TO CALENDAR: https://www.addevent.com/event/iz22390572
10 September 2024, 09:30-09:50
Verena Schramm, MS
VP, Product Management - SOPHiA GENETICS
ADD TO CALENDAR: https://evt.to/eegsmihiw
The webinar aims to provide a comprehensive overview of the latest advancements in the clinical management of high-grade ovarian cancer, with a focus on incorporating information regarding homologous recombination deficiency (HRD) and BRCA statuses obtained through decentralized, in-house assays. Four experts in the field — one anatomic pathologist, two medical oncologists, and one biologist — will present selected clinical cases to illustrate the integration of in-house HRD and BRCA status assessment into routine clinical practice.
The speakers will discuss the challenges and benefits associated with the transition from a centralized testing system to a decentralized, in-house assessment, in terms of results reporting, management of indeterminate cases, and communication among involved healthcare professionals.
This webinar will aim to foster interdisciplinary collaboration among oncologists, geneticists, pathologists, and molecular biologists, facilitating a holistic approach to the clinical management of the most deadly gynecological cancer in the promising era of personalized treatments for patients with high-grade ovarian cancer.
Speakers
Xavier Matias-Guiu, MD, PhD
Professor of Pathology
University of Barcelona
Xavier Matias-Guiu is a professor of pathology at the University of Barcelona and Lleida and holds the position of chairman of pathology at Hospital Universitari Arnau de Vilanova de Lleida and Hospital Universitari de Bellvitge. He earned his medical degree from the University of Barcelona in 1981, and his doctorate from the Autonomous University of Barcelona in 1987. Between 1983 and 1986, he trained in Pathology and later became a faculty member at Hospital de Sant Pau from 1988 to 2002. He completed a postdoctoral fellowship in research pathology at New England Medical Center-Tufts University.
Matias-Guiu’s research focuses on the pathology and molecular features of endometrial and ovarian carcinomas. He served as the president of the Spanish Society of Pathology (2019-2021) and has been involved with the European Society of Pathology as a Member of the Council (2015-19), chairman of the Education subcommittee (2021-23), and president-elect (2023- ). He served as the president of the International Society of Gynecologic Pathologists (ISGYP) (2021-2023) and is a member of the World Health Organization (WHO) panel for the Classification of Tumours of the Female Genital Tract (2014, 2020). He also contributed to international guidelines in endometrial cancer and the ESMO guidelines on predictive biomarker testing in OC in 2020.
Beatriz Pardo, MD
Medical Oncologist
Institut Català d’ Oncologia (ICO) L’ Hospitalet
Beatriz Pardo graduated from the University of Barcelona and trained as a medical oncologist at Hospital de Sant Pau de Barcelona in 2001.She has been working as a medical oncologist since 2001 at Institut Català d’ Oncologia (ICO) L’ Hospitalet in Barcelona, and she has more than 20 years of clinical experience in gynecological cancers. She is working in a multidisciplinary group along with specialized oncologists, surgeons, pathologists, and radiologists in this area, continuously improving her knowledge.Pardo has been the principal investigator of several multicenter clinical trials trying to improve standard treatment for patients suffering from this disease and participating in the development of remarkable drugs such as PARP inhibitors or immunotherapy in gyn cancers. In parallel, she is a tutor of medical oncology residents in our Institution, collaborating in their training.
Marta Gil-Martin, MD
Clinical Director of the Phase I Unit
ICO l’Hospitalet
Marta Gil-Martin graduated from the University of Barcelona and trained as a medical oncologist at Institut Català of Oncology (ICO) in L’Hospitalet, Barcelona, Spain. Since then, she has been working in two amazing areas: gynecologic tumors and early drug trials. She has participated as a principal investigator in several trials in ovarian, endometrial, and cervical cancer, participating in the development of drugs such as PARP inhibitors and immunotherapy in endometrial cancer. Since 2022, she is also in the steering board of GEICO, the Spanish Ovarian Cancer Research Group. In parallel, she is the clinical director of the Phase I Unit in ICO l’Hospitalet since 2017.
Sergio Villatoro, PhD
Biologist, Department of Pathological Anatomy
Hospital Universitari de Bellvitge – IDIBELL
Sergio Villatoro is a molecular biologist with experience in the field of human genetics. His activity as a scientist has been characterized by analyzing human genomic variants either polymorphic or pathological. He has been involved in different projects to uncover variants related to neurodevelopmental disorders and in the study of polymorphic structural variants in human populations and their functional and evolutionary consequences.
Going beyond HRR mutations: A deep-learning approach on HRD detection in ovarian cancer
Homologous recombination deficiency (HRD) is an important prognostic and predictive biomarker in ovarian cancer. It is assessed by combining information from homologous recombination repair (HRR) gene mutations, the “cause” of HRD, with a measure of genomic scarring, the “effect” of HRD. However, implementing HRD analysis in-house can be challenging due to technical limitations, such as the requirement for deep genomic profiling data. Deep learning-based approaches that leverage low-pass whole genome sequencing (WGS) can help overcome limitations and maximize insights from raw NGS data for accurate in-house HRD detection.
In this webinar, Dr. Nicola Normanno (Director, Translational Research, National Cancer Institute, Italy Pascale Foundation) presents analytical performance results from an in-house evaluation of HRD status in ovarian cancer samples using the deep learning-based SOPHiA DDM™ HRD Solution.
SOPHiA DDM™ HRD Solution is for research use only, not for use in diagnostic procedures.
SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise.
SOPHiA DDM™ Dx Hereditary Cancer Solution, SOPHiA DDM™ Dx RNAtarget Oncology Solution and SOPHiA DDM™ Dx Homologous Recombination Deficiency Solution are available as CE-IVD products for In Vitro Diagnostic Use in the European Economic Area (EEA), the United Kingdom and Switzerland. SOPHiA DDM™ Dx Myeloid Solution and SOPHiA DDM™ Dx Solid Tumor Solution are available as CE-IVD products for In Vitro Diagnostic Use in the EEA, the United Kingdom, Switzerland, and Israel. Information 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 us to obtain the appropriate product information for your country of residence.
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