Advances in Rare Disease Diagnosis

In the thirteenth installment of the PhenoTips Speaker Series, Director of Children’s National Hospital’s Rare Disease Institute, Dr. Marshall Summar, President and CEO of Rady Children’s Institute for Genomic Medicine, Dr. Stephen Kingsmore, and Clinical Lead for Rare Disease at Genomics England, Dr. Ellen Thomas, discuss the latest advances in the quest to end the diagnostic odyssey for rare diseases.


With over 6,000 rare diseases, reaching diagnosis is a long and arduous process for the 300 million people worldwide affected by rare disease. Advances in technology, collaboration, bioinformatics and more hold the promise to end or reduce this diagnostic odyssey. To address these advancements, PhenoTips invited Dr. Stephen Kingsmore, Dr. Marshall Summar, and Dr. Ellen Thomas.

Dr. Stephen Kingsmore, the inaugural President & CEO of the Rady Children’s Institute for Genomic Medicine, previously held roles as Director of the Center for Pediatric Genomic Medicine at Children’s Mercy Hospital, President & CEO of the National Center for Genome Resources, and Chief Operating Officer of Molecular Staging Inc. Dr. Kingsmore’s rapid genome diagnosis was ranked as one of the top 10 medical breakthroughs of 2012 by TIME magazine, and his 26-hour genetic sequencing garnered him the Guiness World Record for the fastest genetic sequencing in the world.

Dr. Marshall Summar is the Margaret O’Malley Professor of Genetic Medicine and Chief of the Division of Genetics and Metabolism at Children’s National Hospital. In addition, he launched and directs Children’s National’s first clinical Rare Disease Institute, the largest clinical division of its kind treating over 8,000 rare disease patients per year. Dr. Summar currently chairs the National Organization for Rare Disorders’ Scientific and Medical Advisory Committee as well as Co-Chairing the Research Committee for the Rare Disease Diversity Coalition. His research focuses on adapting knowledge from rare diseases to mainstream medicine.

Dr. Ellen Thomas is Clinical Lead for Rare Disease and Clinical Safety Officer at Genomics England, Clinical Advisor to the Genomics Unit at NHS England and Improvement, and a Consultant in Clinical Genetics at Guy’s and St Thomas’ NHS Trust. As part of the Genomics England Science Team led by Professor Sir Mark Caulfield, she has worked on delivery of the 100,000 Genomes Project, and now focuses primarily on Genomics England’s contributions to the Genomic Medicine Service, as well as supporting the interface between research and clinical care for participants and researchers within the National Genomic Research Library.

In this panel discussion moderated by Dr. Pawel Buczkowicz, leading rare disease clinicians and researchers address:

  • The latest technological advances helping to reduce the diagnostic odyssey for patients
  • The greatest challenges faced by patients and clinicians and methods to overcome them
  • The role of bioinformatics in the analysis of large datasets generated from sequencing
  • The role of rare disease diagnosis in precision medicine.

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