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Intelligent detection and diagnosis of rare diseases: A case for AI

This webinar is brought to you by the Science/AAAS Custom Publishing Office

Intelligent detection and diagnosis of rare diseases: A case for AI

15 July 2021

12:00 p.m. ET

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There is much confusion around the theory and definition of artificial intelligence (AI) and how it can be best applied to advance society’s goals, particularly in the area of biomedical research. As part of our ongoing series on rare diseases, this webinar will attempt to explain the foundational concepts of AI and explore how it is being applied to help identify, diagnose, test for, and manage complex disorders, including rare diseases, in global populations. Detection of rare disease is uniquely amenable to analysis using AI, in part because the symptoms and laboratory tests can provide a disease-specific “signature” that software can be trained to recognize. But essential to these efforts is the collection and storage of accurate and reliable data in accessible databases. Experts will discuss how such data can be gathered and analyzed, including the application of technologies such as AI to comb through thousands of medical records to detect both known and new rare diseases, and to understand how to best manage these conditions.

This webinar will last for approximately 60 minutes.

Speaker bios

Ben Solomon, M.D.

Bethesda, MD

Dr. Solomon completed training in pediatrics/clinical genetics through the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health. His initial work at NHGRI focused on understanding the causes of congenital disorders and applying emerging technologies and analytic approaches to genomic and phenotypic datasets. Dr. Solomon joined the Inova Translational Medicine Institute in 2013 as chief of the Division of Medical Genomics, overseeing a team of clinicians, bioinformaticists, and lab scientists to deliver clinical care and conduct genomic research. In 2016, he became the managing director of GeneDx, a genomic biotechnology company with a strong emphasis on research and method development related to novel causes of genetic disease. In this role, he led over 400 molecular geneticists, genetic counselors, and laboratory and research staff. He returned to NHGRI as clinical director in 2019, where he is also the head of a research group studying genetic conditions via artificial intelligence approaches.  

Sylvia Thun, M.D.

Berlin Institute of Health @ Charité
Berlin, Germany

Dr. Thun is director of the Core Unit eHealth and Interoperability at the Berlin Institute of Health (BIH) and the Charité – Universitätsmedizin Berlin as well as professor of information and communication technologies at the Hochschule Niederrhein University of Applied Sciences in Krefeld. Her primary research interests are IT standardization, semantic interoperability, and eCommerce in health care. She graduated with a Ph.D. in medicine from Rheinisch-Westfälische Technische Hochschule Aachen in 2001, after which she held positions as a senior consultant for Synaix Healthcare and as a research assistant at the German Institute for Medical Documentation and Information in Cologne, and at the Federal Ministry of Health in Bonn, where she worked on terminology and classification, drug information, and interoperability between software systems in the health care sector. In 2011 she joined Hochschule Niederrhein and in 2014 became the director of their eHealth Competence Center.

Julián Isla

Foundation 29
Madrid, Spain

Mr. Isla is resource manager for the artificial intelligence group at Microsoft Consulting Services. He is a software engineer by training and has 25 years of experience working for international IT companies. He has experience helping customers with digital transformation and leveraging the capacity of AI to move organizations into automation. He is also chair and cofounder of Foundation 29, a nonprofit organization focused on how AI can empower people to make decisions about their own health based on evidence provided by data and supported by automated interpretation systems. In addition, he is chief scientific officer of the Dravet Syndrome European Federation, a European organization of patients with Dravet Syndrome. Mr. Isla is the father of Sergio, a young boy who has Dravet Syndrome. Despite having no neuroscience or medical background, he gained the skills to become a member of the Committee for Orphan Medicinal Products at the European Medicines Agency (EMA) as a patient representative. He is also part of the Therapeutic Action Group for EURORDIS, the largest organization representing rare disease patients in Europe. In Spain, he is member of the CIBERER (Biomedical Research Networking Center on Rare Diseases) scientific advisory group.

Sandra Brasil, Ph.D.

Portuguese Association for Congenital Disorders of Glycosylation
Caparica, Portugal

Dr. Brasil has an undergraduate degree in biochemistry and a Ph.D. in pharmacy (in the field of molecular and cellular biology) from the University of Lisbon, Portugal. From 2013 to 2017, she was a postdoc in the laboratory of Belén Pérez at CBMSO-Madrid, Spain, working on congenital disorders of glycosylation (CDGs). Since 2018, she has been a researcher and patient advocate at the Portuguese Association for Congenital Disorders of Glycosylation and other Rare Metabolic Diseases (APCDG-DMR) and at CDG & Allies – Professionals and Patient Associations International Network (CDG & Allies – PPAIN). Her area of interest is the study of new therapeutic targets and approaches to ameliorate patients’ symptoms and quality of life, with a specific focus on advancing therapy research in CDG and raising awareness of this condition.

Sean Sanders, Ph.D.

Washington, DC

Dr. Sanders did his undergraduate training at the University of Cape Town, South Africa, and his Ph.D. at the University of Cambridge, UK, supported by the Wellcome Trust. Following postdoctoral training at the National Institutes of Health and Georgetown University, Dr. Sanders joined TranXenoGen, a startup biotechnology company in Massachusetts working on avian transgenics. Pursuing his parallel passion for writing and editing, Dr. Sanders joined BioTechniques as an editor, before joining Science/AAAS in 2006. Currently, Dr. Sanders is the Director and Senior Editor for Custom Publishing for the journal Science and Program Director for Outreach.

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