I recalled these comments* from Vicky Whittemore re Wenzhong Xiao's talk (part of the metabolism webinar) - basically there are a lot of ways to get epilepsy & ME/CFS may be the same.
One of my suggestions (in response to NINDS request for research to be prioritised) was family genetic studies (whole genome sequences/rare variant study) - families with more than 1 member affected & at least 1 severe
@Hutan
*"Vicky Whittemore: Yeah. So, this is like, I guess, question, comment from -- so, the other hat I wear at NINDS is to oversee grants on the genetic epilepsies. And there are now, I think, 110, 120 known genes. That when there are mutations in those genes can lead to seizures and epilepsy syndromes. So, looking at the complexity of the metabolic pathway, it's not at all surprising to me to think that there could be problems in -- or any different parts of that pathway that could lead to potentially similar symptoms that we diagnosis ME/CFS. So, it's like thinking about your pipeline picture. There could be leaks at many different joints in that --
Wenzhong Xiao: Exactly.
Vicky Whittemore: It's still leads to a leaky pipe. So, just your thoughts about that. And is that what we're seeing? In part one, we see this heterogeneity, potentially, between individuals with ME/CFS.
Wenzhong Xiao: Yes. I definitely say agree. And, you know, I think we see this for some of the other so-called complexity disease as well, where, you know, you could potentially have multiple places, you know, almost like we were driving a car there, you know. If the car is broken, there could be, you know, multiple places that can, you know, make the car to stop.
So, that seems to be, you know, something that we should, you know, definitely talk about. I know, you know, there are at least six or eight different seminars that you're organizing. You know, I think this is not only an issue with metabolism, but also with some of these other, you know, aspects of the -- yeah, of the research. It's relevant to those topics as well.
But the bottom line is, definitely, it seems like we're seeing more than one place that could be relevant to the mechanism of ME/CFS. And we also see some of the, you know, whole genome sequencing data of ME patients. And, indeed, as you said, you know, there seems to be, you know, neurological components that, you know, might cause similar symptoms in at least some of the patients."
https://www.ninds.nih.gov/sites/def...esearch_Roadmap_Webinar_3_Metabolism_508c.pdf