Last week, the Genomenon team hosted its inaugural User Group Meeting in Salt Lake City. For us, this highly anticipated gathering of Mastermind users was truly special as it marked the beginning of an exciting new tradition of learning and collaboration.
For Rare Disease Day 2023, we celebrate 10 pharma and biotech companies that are working on cures and novel treatments for rare disease patients.
A recently published paper revealed that the prevalence of ENPP1 deficiency is more than triple the previous estimate. In this blog, co-author and Genomic Science Liaison Lauren Chunn explains why this paper is a must-read for orphan drug developers.
Variant classification discrepancies – where clinical laboratories and clinicians/genetic counselors disagree about the clinical meaningfulness of a variant – can impede the accurate diagnosis and subsequent treatment of patients.
Last week, I was in Los Angeles for ASHG. It was great to return in person after the pandemic pause to exchange ideas with industry and academic leaders in genetics. There is something irreplaceable about speaking face-to-face to make real connections and have lively discussions.
Diagnostic Perspectives from Lurie Children’s Hospital: The Value of Mastermind in Clinical CNV Interpretation
In a recent webinar, Dr. Kai Lee Yap, Director of Molecular Diagnostics at Lurie Children’s Hospital, speaks with the Genomenon team about how Mastermind is streamlining the variant interpretation process within the Department of Pathology and Laboratory Medicine.