This study also highlights the importance of high resolution imaging in preclinical and translational studies.

None of this would be possible without the many great scientists on this paper.

Looking forward to many more impactful studies!

There is a great deal more I could say about this study and its potential impact but I hope this post serves as the seed for a spirited discussion, collaborations, and future studies in the #Biology and #Science communities.

We found tumors in mice with the genetic variant as young as only post-natal day 8. This finding suggests to us that these tumors are developmental in origin, a concept that may have great clinical impact in screening and management of this tumor syndrome and others.

Using high resolution imaging, we evaluated individuals with this tumor syndrome and a mouse model we developed for tumors of the head and neck. The mouse imaging was generated using the Mouse Imaging Facility
at NINDS, NIH

This study highlights why we study rare diseases such as #paraganglioma as a window into how we can better understand and treat more common diseases.

We studied how a genetic variant in hypoxia signaling, which is a hallmark of #cancer, leads to tumor development. 🧵

You can learn more at neurosimplicity.com

Thanks for asking!