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Genomenon and Rady Children’s Institute for Genomic Medicine Collaborate to Accelerate Diagnosis of Rare Genetic Disorders in Newborns

October 7, 2020 ANN ARBOR, MI

Genomenon and Rady Children’s Institute for Genomic Medicine Collaborate to Accelerate Diagnosis of Rare Genetic Disorders in Newborns

Mastermind Genomic Search Engine Now Part of RCIGM’s Analysis and Variant Interpretation Workflow

The Rady Children’s Institute for Genomic Medicine (RCIGM) and Genomenon, Inc. today announced a strategic collaboration to accelerate the diagnosis of critically-ill newborns with rare genetic disorders. The collaboration combines the Institute’s genomic research expertise with Genomenon’s Mastermind Genomic Search Engine to advance precision medicine for infants in an intensive care setting.

Under the collaboration, the use of Mastermind has become part of RCIGM’s standard analysis and interpretation workflow. The use of Mastermind has enhanced RCIGM’s rapid Whole Genome Sequencing (rWGS) workflow by helping to identify and curate diagnostic variants to help deliver precision medicine genomic results in a matter of days.

One example of the impact was in the case of a child with an immune deficiency. Mastermind helped identify a critical scientific publication that allowed the RCIGM team to solidify the diagnosis. The information also allowed the medical team caring for the child to pursue a targeted therapy that drastically improved the patient’s condition.

“Our team is focused on using rapid Whole Genome SequencingTM as part of a healthcare delivery system, not a standalone test. We don’t stop with providing a molecular diagnosis, we seek to empower medical teams to deliver disease-specific care,” said Stephen Kingsmore, MD, DSc, President and CEO of the Institute.

Due to the vast amount of published genomic data, finding the scientific publications – sometimes a single article as in the case above – containing the information needed to unlock the diagnosis for a patient with a rare disease is very challenging. To address this issue, Genomenon created Mastermind, a comprehensive database of the genomic literature – all publications that contain information about genes or genetic disease, including rare genetic disease. Mastermind does this with its proprietary Genomics Language Processing (GLP) capability – an artificial intelligence (AI) text analysis technique focused on the complexities and idiosyncrasies of genetics and pathology.

Armed with Mastermind, the team at RCIGM have a tool that can be critical in finding causal variants and associated information, which is key in rare disease diagnosis.


Genomenon is a genomics intelligence company dedicated to improving the quality of life of genetic disease and cancer patients by making genomic information actionable. Blending the power of AI with the precision of genomic expertise, the company empowers pharmaceutical companies and the clinical diagnostic community with empirical genomic evidence and insights that both support the development of novel therapeutics and speed diagnostic assessments and treatment recommendations.

Rady Children’s Institute for Genomic Medicine

The Institute is leading the way in advancing disease-specific healthcare for infants and children through genomic and systems medicine research. Discoveries at the Institute are enabling rapid diagnosis and targeted treatment of critically ill newborns and pediatric patients at Rady Children’s Hospital-San Diego and a growing network of more than 40 children’s hospitals nationwide. The vision is to expand delivery of this life-saving technology to enable the practice of Rapid Precision MedicineTM at children’s hospitals across the nation and the world. RCIGM is a subsidiary of Rady Children’s Hospital and Health Center. Learn more at www.RadyGenomics.org. Follow us on Twitter and LinkedIn.

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