Accelerating Rare Disease Diagnosis with Genomic Data
Genomenon CEO, Mike Klein, shares how Mastermind’s new Disease-Specific Curated Content is helping clinicians discover new treatment options for rare diseases.
Rapid Variant Interpretation with the Mastermind Relevancy Score
The key to rapid and accurate literature curation for clinical interpretation and therapeutic discovery is standardizing and optimizing the review process. The Mastermind Genomic Search Engine meets this need with a collection of sophisticated algorithms that prioritize search results by relevance. This proprietary process is called the Mastermind Relevancy Score.
Top Three Benefits of Locus-Specific Patient Databases for Rare Disease
In a recent webinar, Genomenon’s chief scientific officer Dr. Mark Kiel was joined by Dr. Gus Khursigara, VP of Medical Affairs and Clinical Strategy at Inozyme Pharma. This blog explores three key benefits of locus-specific patient databases (or Patient Landscapes), and how they are helping Inozyme better understand and target rare diseases.
Using Technology to Power Pharma and Clinical Genomics with Mike Klein
Genomenon CEO, Mike Klein met with Mike Maddox, host of ASK, to talk about Genomenon’s use of innovative technology to connect medical professionals with the scientific evidence they need to treat rare diseases and cancers.
Uncovering the Genomic Variant Landscape for Rare Disease BPAN
Beta-propeller Protein-Associated Neurodegeneration, or BPAN, is a rare genetic condition caused by mutations in the WDR45 gene. It is characterized by seizures, complex epileptic encephalopathies, developmental delays, and neurodegenerative symptoms similar to those found in Parkinson’s disease and currently has no cure.