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Webinar Science and Life

Detecting rare disease: Revealing the methods, motivations, and implications

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

Detecting rare disease: Revealing the methods, motivations, and implications

Recorded 06 May 2021


By their nature, rare diseases are difficult to detect because of their low overall occurrence in most populations. Improving identification and detection of these disorders, particularly early in the life of the patient, can have profound effects on the course of the disease and the quality of life of the patient and their family. This webinar will examine methods for detecting patients with rare diseases, particularly those with underlying genetic causes, explained in plain language. Our expert panel will describe the benefits and limitations of genetic testing, recent advances, and new technologies, including how developments in artificial intelligence might help uncover hidden rare diseases. Only a decade ago it cost a billion dollars to conduct a full genomic analysis; now this can be done for about $1,000. But how useful and actionable are the results? The variety of genetic tests available provide an array of information that can be confusing to the general population and medical practitioners alike. Tune in to learn how and why genetic testing is done, how to interpret the results, and what impact these results can have on families and patients managing a rare disease.

This webinar will last for approximately 60 minutes.

Speaker bios

Marshall Summar, M.D.

Children's National Hospital
Washington, DC

Dr. Summar is well-known for his pioneering work in caring for children diagnosed with rare diseases. He came to Children’s National Hospital in Washington, DC, in 2010 from Vanderbilt University and holds board certifications in both pediatrics and clinical genetics as well as biochemical genetics. At Children’s National, he leads the Division of Genetics and Metabolism, currently the largest clinical division of its kind in the world, overseeing 8,000 patients a year with rare diseases. His laboratory works on both devices and treatments for patients with genetic diseases while also supporting advancements in mainstream medicine through education about these disorders. His work has resulted in new drugs in U.S. Food and Drug Administration trials for patients with congenital heart disease and premature birth. Dr. Summar holds more than 60 patents and has published more than 160 peer-reviewed research studies. He developed and launched the world’s first Rare Disease Institute (RDI) at Children’s National, which recently opened its new location on the Children’s National Research & Innovation Campus, a first-of-its-kind pediatric research and innovation hub located in Washington, DC.

Cynthia Tifft, M.D., Ph.D.

National Institutes of Health
Bethesda, MD

Dr. Tifft received her M.D. and Ph.D. from the University of Texas Health Science Center and Graduate School of Biomedical Sciences at Houston. She completed her pediatric residency training at Johns Hopkins Hospital and her clinical genetics fellowship in the Inter-Institute Medical Genetics Training Program at the U.S. National Institutes of Health (NIH). Following her fellowship, she joined the faculty at Children’s National Medical Center and became chair of the Division of Genetics and Metabolism in 1996. After 12 years as division chair, she was recruited to the National Human Genome Research Institute at NIH to become deputy clinical director and to direct the pediatric portion of the NIH Undiagnosed Diseases Program. Dr. Tifft’s research interests include the natural history and pathogenesis of lysosomal storage disorders affecting the central nervous system, particularly Tay-Sachs and Sandhoff diseases, and GM1 gangliosidosis. In 2019, she and her collaborators, with support from Sio Gene Therapies, initiated a “first-in-human” phase 1/2 AAV9 intravenous gene therapy trial for patients with Type II GM1 gangliosidosis.

Jimeng Sun, Ph.D.

University of Illinois, Urbana-Champaign
Champaign, IL

Dr. Sun is a Health Innovation Professor at the Computer Science Department and at Carle Illinois College of Medicine at the University of Illinois Urbana-Champaign (UIUC). Before coming to UIUC, he was an associate professor in the College of Computing at the Georgia Institute of Technology. His research focuses on artificial intelligence (AI) for healthcare, including deep learning for drug discovery, clinical trial optimization, computational phenotyping, clinical predictive modeling, treatment recommendation, and health monitoring. He was recognized as one of the Top 100 AI Leaders in Drug Discovery and Advanced Healthcare by Deep Knowledge Analytics. Dr. Sun has published over 120 papers and filed over 20 patents, 5 of which have been granted. He received the SIAM Conference on Data Mining (SDM)/IBM Early Career Data Mining Research Award in 2017, the IEEE ICDM Best Paper Award in 2008, the SDM Best Research Paper Award in 2007, and the SIGKDD Dissertation Award (runner-up) in 2008. He completed his B.S. and M.Phil. in computer science at the Hong Kong University of Science and Technology in 2002 and 2003, respectively, and his Ph.D. in computer science at Carnegie Mellon University in 2007.

Helena Kääriäinen, M.D., Ph.D.

Finnish Institute for Health and Welfare
Helsinki, Finland

Dr. Kääriäinen is a specialist in medical genetics and an expert in rare diseases and genetic counseling. She is retired but works part-time as a research professor at the Finnish Institute for Health and Welfare (THL). She also works as a consultant clinical geneticist at Blueprint Genetics Laboratory and at Norio – Centre of Rare Diseases. She previously worked as a professor of medical genetics at Helsinki and Turku Universities and in various posts at Helsinki and Turku University Hospitals. She has held active roles in the European Society of Human Genetics, including as president from 2014 to 2015. She has been a Work Package/Unit Leader in European Union projects aimed at creating guidelines and tools for improving the quality of genetic counseling in Europe. She has also been the Finnish representative on several EU rare-disease committees and boards, as well as Finnish national ethical boards. In her present work, she has tasks relating to THL Biobank research. Her research interests are rare diseases, genetic testing and counseling, and public health genetics.

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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