Mastermind: The Engine Behind the Future of Newborn Screening

Last month’s World Orphan Drug Congress brought together more than 250 insightful speakers, including a key leader from Rady Children’s Hospital who focused on the new new BeginNGS™ (pronounced “beginnings”) program, based at the Rady Children’s Institute for Genomic Medicine (RCIGM).

Read more

OUR RARE STORIES | Rare Disease Day 2022

In honor of Rare Disease Day February 28, 2022, we are excited to present Genomenon’s “Our Rare Stories” Live Blog, where we will be compiling articles, informative webinars, press releases, and other compelling resources that all play a part in highlighting the inspiration for our mission—patient stories.

Read more

Guest Blog: Don’t Forget Morgan – Elle’s Story

In June of 2016, I sat with my husband in a doctor’s office awaiting the results of genetic testing that had been performed on our daughter, Elle. Elle was five at the time and had struggled with global developmental delay, particularly speech and language development, since birth.

Read more

Mastermind Connection: Nostos Genomics AION Platform

Nostos Genomics’ AION is now integrated with the Mastermind Genomic Search Engine. This blog will show how AION users can quickly view Mastermind publication search results within the platform in just a few steps.

Read more

Using Mastermind to Explore Gene Fusion Events

By allowing users to find, connect, explore, and understand the links between genomic concepts of interest, the Mastermind Genomic Search Engine has quickly become the essential variant interpretation literature search companion. In this blog, we explore Mastermind’s utility for finding data on gene fusions.

Read more

ACMG 2021: Insights from the Clinical Community

This year’s virtual ACMG Annual Clinical Genetics Meeting served as an inspiring reminder of why we do what we do. For both the Children’s Hospital Genomics Roundtable and the On-Demand Product Theater, we were excited to highlight expert perspectives and real-life applications from the heart of the ever-evolving realm of clinical genetics. In short, we …

Read more