Ultra-Rapid NGS Analysis in Neonatal Intensive Care Units and Pediatric Intensive Care Units 

Genetic diseases, of which there are over 5000, are the leading cause of death in infants, especially in Neonatal Intensive Care Units (NICU) and Pediatric Intensive Care Units (PICU). Whole genome sequencing and whole exome sequencing are effective methods for diagnosis of genetic diseases. However, they are too slow to have clinical utility in acute care, such as in diagnosis of genetic diseases in very ill infants where there is often a very narrow time window to guide interventions.

Together with the Rady Children’s Institute for Genomic Medicine, we’ve developed an ultra-rapid platform that addresses this issue of time in pediatric genomics. The ultra-rapid platform utilizes DRAGEN, Edico Genome’s bio-IT Platform designed to rapidly accelerate NGS big data analysis by utilizing the efficiency and parallelization that is delivered by implementing Edico Genome’s algorithms on an FPGA-based platform.  This new FPGA-powered infrastructure allows the simultaneous evaluation of nearly all 5,000 known genetic diseases in a single test, enabling NICUs and PICUs like Rady Children’s to diagnose and treat newborns in unprecedented time. Edico Genome and the Rady Children’s Institute for Genomic Medicine recently published a white paper, “Precision Medicine for Newborns by 26-Hour Whole Genome Sequencing,” detailing the ultra-rapid infrastructure and its implementation at Rady Children’s, including findings and results to date.

You can catch up on ‘The Ultra-Rapid Method: The Future of Pediatric Genomics’ on demand here.

Our speakers 

Pieter Van

Pieter van Rooyen, Ph.D.

CEO and Founder, Edico Genome

Pieter has more than 20 years of experience inventing, developing and successfully commercializing technologies in industries including semiconductors, wireless, health care, life sciences, image processing and retail automation, with a portfolio of over 130 granted patents in these areas. His passion for bringing to market innovative technologies has led to the formation and funding of a number of technology start-ups with significant return to investors. Prior to Edico Genome, Pieter was involved in the emerging mobile health industry, in which mobile phone technology enables innovative health care delivery in underdeveloped communities. Pieter also co-founded ecoATM (acquired in 2013 by Outerwall, Inc. (NASDAQ:OUTR) for $350 mil.) and Zyray Wireless (acquired in 2004 by Broadcom Corporation (NASDAQ:BRCM) for $100 mil.).

 

David Dimmick

David Dimmock M.D.

Medical Director of Institute for Genomic Medicine, Rady Children’s Hospital – San Diego

Dr. David Dimmock is a nationally-renowned expert on the field of clinical genomic medicine.  Dr. Dimmock joined the Rady Children’s Institute for Genomic Medicine, located in San Diego, CA, in June 2016. He is the clinician primarily responsible for the first use of exome sequencing to change the medical management of a child. This case was the subject of Pulitzer Prize winning articles and the book, One in a Billion: The Story of Nic Volker and the Dawn of Genomic Medicine. In 2010, he was a leader of the team that deployed the first clinical end-to-end whole genome sequencing test. This solution included patient counselling and consent, clinical laboratory testing, data analysis, data return. Before joining Rady Children’s, Dr. Dimmock’s clinical practice focused on the diagnosis of heritable disorders in children and adults and the long term care of patients with mitochondrial and metabolic disorders. He has been the principal investigator for multiple industry sponsored studies evaluating novel therapeutics for these disorders.  

Edico Genome has developed the DRAGEN™ Bio-IT Processor, the world’s first next-generation sequencing reconfigurable bioinformatics processor. This processor is able to analyze the large amounts of data generated by next-generation sequencing rapidly and cost effectively, without compromising accuracy, and overcoming a key bottleneck in the DNA sequencing workflow. Founded in 2013, the company is a graduate of EvoNexus, San Diego’s only community-supported, fully pro-bono technology incubator.

Rady Children’s Institute for Genomic Medicine

Rady Children’s Institute for Genomic Medicine was founded by Rady Children’s Hospital – San Diego and brings together world-class scientists and clinicians into shared research infrastructure for accelerated translation of research discoveries into prevention, diagnosis, treatment and ultimately cures for childhood diseases. This integrated, process-driven approach to precision medicine includes genomics, transcriptomics, epigenomics, metabolomics and proteomics, and provides a comprehensive view of a child’s health status and risk factors for disease.

 

 

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