February 27, 2025 • Estimated Reading Time: 1 minute
Exciting News!
HealthSpotlight is now AllMyHealth
Wondering why we have a brand new look? We have exciting news - HealthSpotlight has merged with and rebranded as AllMyHealth.
Our shared commitment to supporting rare disease communities with trusted resources and advocacy remains as strong as ever - now under a unified name that reflects our patient-first values.
We collaborate with patient support groups to create advocacy materials and amplify community news and events.
In their study, Bender et al. (2025) explored the underlying mechanisms of inborn errors of metabolism (IEM) by examining the role of modifier pathways, which are influenced by genetic variations. They generated molecular signatures of IEM in relevant tissues using RNA sequencing and integrated these with multiomic data from healthy populations.
Specifically for Gaucher disease, the research reaffirmed the role of complement signaling in the disease's inflammatory processes. This finding was a result of comparing disease signatures with gene regulatory networks from non-IEM individuals. The approach taken by Bender et al. offers a new way to understand IEM pathophysiology and could lead to the identification of novel drug targets.
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