Taking a look into research.

Acute Necrotizing Encephalopathy

What is being done in the medical and scientific community about ANE? 

ANE Awareness Day 2022

In 2009, Derek Neilson and colleagues published a seminal paper where they reported that three separate dominant missense mutations in the RANBP2 gene were associated with Acute Necrotizing Encephalopathy (ANE), a pediatric condition where otherwise normal individuals develop a cytokine storm localized primarily to the central nervous system in response to viral infection . 

To shed some light on this disease, numerous clinicians and basic researchers convened from 10 to 12 November online to share their findings and discuss issues that need to be addressed to make progress in understanding the underlying etiology of this devastating condition.

The above was written in a recently published article titled “Workshop on RanBP2/Nup358 and acute necrotizing encephalopathy” (1). The article gives an overview of the workshop meeting talks and other topics that were discussed. It was attended by 114 participants from 20 countries and included not only researchers but also primary care physicians and ANE family members.

We recommend reading the article to discover the depth and quality of research taking place in different countries.

Read here – https://www.tandfonline.com/doi/full/10.1080/19491034.2022.2069071

We are pleased to be able to share with you Dr Derek Neilson’s talk from the workshop in the video linked below, including his thoughts on non genetic cases of ANE.

This is followed in the video by 4 short talks/explanations by clinician Ming Lim (UK) and researchers Alex Palazzo, Theo Moraes (Canada) and Nathalie Ahel (France) on the work they are doing to shed a light on how ANE is caused. These 4 recordings were instigated by ANE community members Faye & Craig Ansell & Grayson’s Legacy Support Trust and were put together in a recording for viewing at their recently held Summer Ball. The Ball’s aim was to raise funds specifically for ANE research. We can not thank enough, the Ansell’s and the wonderful medical & scientific team above and other scientific groups around the world for their ongoing work. 



(1) Alexander F. Palazzo, Jomon Joseph, Ming Lim & Kiran T. Thakur (2022) Workshop on RanBP2/Nup358 and acute necrotizing encephalopathy, Nucleus, 13:1, 154-169, DOI: 10.1080/19491034.2022.2069071


“The ANE1 mutations in NUP358 and the affected children have been on my mind for almost 20 years. I hope that our structural and functional work will help with the eventual development of a cure”.

Andre Hoelz  
Structural cell biologist. Professor of Chemistry and Biochemistry at Caltech

We also need to recognise some significant research that was published this year in Science magazine….

You can find an overview of the article here – https://www.sciencedaily.com/releases/2022/06/220610152926.htm 

“The implications of this research are potentially huge. Not only is the NPC central to the operations of the cell, it is also involved in many diseases. Mutations in the NPC are responsible for some incurable cancers, for neurodegenerative and autoimmune diseases such as amyotrophic lateral sclerosis (ALS) and acute necrotizing encephalopathy, and for heart conditions including atrial fibrillation and early sudden cardiac death. Additionally, many viruses, including the one responsible for COVID-19, target and shutdown the NPC during the course of their lifecycles”.

“It’s a little like an airplane hangar where you can repair 747s, and the door opens to let the 747 come in, but there’s a person standing there who can keep a single marble from getting out while the doors are open,” says Caltech’s André Hoelz, professor of chemistry and biochemistry and a Faculty Scholar of the Howard Hughes Medical Institute. For more than two decades, Hoelz has been studying and deciphering the structure of the NPC in relation to its function. Over the years, he has steadily chipped away at its secrets, unraveling them piece by piece by piece by piece.


Dr. Derek Neilson is a clinical geneticist in Phoenix, Arizona.

Speaking in regards to ANE at the Workshop RanBP2/Nup358 and Acute Necrotizing Encephalopathy…

“This is something that is hard to approach without some degree of emotion because this is something that I have been a part of and watching in some fashion for about 20 years. So, I want to say… what have I seen & what have I seen coming towards us in the future.”