Jean Swidler
@jeanc9orf72.bsky.social
Genetic ALS & FTD Advocate, C9orf72 Carrier , Executive Director Genetic ALS & FTD : End the Legacy - East Bay California
The FDA's case study for the Tofersen approval makes clear NFL is a viable surrogate marker for ALL ALS cases. We can stop saying "ALS has no biomarkers" - not true. Now we need to find drugs that match tofersens dramatic reduction in NFL. t.co/fKqt6P2WRH Thanks @alsctr.bsky.social for the tip!
https://www.fda.gov/media/186135/download
t.co
September 18, 2025 at 4:21 PM
The FDA's case study for the Tofersen approval makes clear NFL is a viable surrogate marker for ALL ALS cases. We can stop saying "ALS has no biomarkers" - not true. Now we need to find drugs that match tofersens dramatic reduction in NFL. t.co/fKqt6P2WRH Thanks @alsctr.bsky.social for the tip!
Reposted by Jean Swidler
That's a wrap on our inaugural Pacific Region Genetic MND and FTD Community Summit! Over two dozen people gathered in this event planned in a few short months. Where ever the genetic community exists we will work to provide spaces like this so that no one must ever feel alone, or sidelined!
September 7, 2025 at 1:46 AM
That's a wrap on our inaugural Pacific Region Genetic MND and FTD Community Summit! Over two dozen people gathered in this event planned in a few short months. Where ever the genetic community exists we will work to provide spaces like this so that no one must ever feel alone, or sidelined!
Reposted by Jean Swidler
Good heads up especially for media: do not take a bunch if correlations by motivated actors seriously. If they don’t preregister their hypotheses and data, chances are the results are spurious and cherry picked
A short explanation of p-hacking and why it absolutely makes sense to ask HHS to release the study methods of their autism report in advance.
September 6, 2025 at 1:12 PM
Good heads up especially for media: do not take a bunch if correlations by motivated actors seriously. If they don’t preregister their hypotheses and data, chances are the results are spurious and cherry picked
I am so impressed with all who do so much for our movement. I have to share this summer has been a challenging one for my family as my father in law (a physician) suffered and passed away from pancreatic cancer. My husband spent 6 weeks with him two states over. 1/2
We have been busy this summer of 2025! Read about it here endthelegacy.org/newsletters - including that our Pacific Region Summit is starting in a few hours - cheers to our volunteer planning committee! #c9orf72 #s0d1 #grn #fus #EndtheLegacy
September 5, 2025 at 6:21 PM
I am so impressed with all who do so much for our movement. I have to share this summer has been a challenging one for my family as my father in law (a physician) suffered and passed away from pancreatic cancer. My husband spent 6 weeks with him two states over. 1/2
Random people representing themselves allow for those hosting meetings to get around accountability and institutional knowledge .
Collaboration without inclusion of diverse voices is an echo chamber of bias.
There is a valuable role for independent voices in patient and disease advocacy. Sometimes in ALS Land we're skipping the difficult conversations in order to get to inter-organizational priorities that everyone with organizational ties is comfy with. Collaboration should not require heads-in-sand.
August 25, 2025 at 3:30 AM
Random people representing themselves allow for those hosting meetings to get around accountability and institutional knowledge .
I’m lucky to be able to advocate with incredible people like Bill!
Yesterday Genetic ALS and FTD community advocate and End the Legacy member Bill spoke on the need for greater Genetic Discrimination protections at the Next Gen DX summit mainstage. We appreciate the summit featuring this important issue and cheer Bill for his commitment to our community!
August 20, 2025 at 6:01 PM
I’m lucky to be able to advocate with incredible people like Bill!
Well deserved!!
Today we are celebrating our co-founder and Genetic ALS champion Daniel Barvin for being designated an "ALS Hero" by the largest ALS organization in the United States, the ALS Association. From the entire Genetic ALS and FTD Community we cheer you Daniel! #C9orf72 #ALShero #Leadership
August 14, 2025 at 2:08 PM
Well deserved!!
Reposted by Jean Swidler
We are proud to share our co-founder and current Executive Director Jean Swidler was able to work on this recently accepted article on C9orf72 prevention trials. Cheers to the authors and funders.
#EndTheLegacy #c9orf72 #prevention
https://doi.org/10.1093/brain/awaf290
#EndTheLegacy #c9orf72 #prevention
https://doi.org/10.1093/brain/awaf290
August 6, 2025 at 8:53 PM
We are proud to share our co-founder and current Executive Director Jean Swidler was able to work on this recently accepted article on C9orf72 prevention trials. Cheers to the authors and funders.
#EndTheLegacy #c9orf72 #prevention
https://doi.org/10.1093/brain/awaf290
#EndTheLegacy #c9orf72 #prevention
https://doi.org/10.1093/brain/awaf290
The only way we will get broad adoption of brain health prevention strategies is to empower patients and their clinicians to use neurological biomarkers to provide feedback on brain health in advance of not developing dementia in one’s old age.
August 5, 2025 at 9:33 PM
The only way we will get broad adoption of brain health prevention strategies is to empower patients and their clinicians to use neurological biomarkers to provide feedback on brain health in advance of not developing dementia in one’s old age.
I had the privilege of participating in my first #allals #preventals visit yesterday @UCSF! I appreciated the professional and cordial work of coordinator Amy and investigator Dr Rosow. My first experience with handheld dynamometry, much quicker than an emg.
July 30, 2025 at 12:45 PM
I had the privilege of participating in my first #allals #preventals visit yesterday @UCSF! I appreciated the professional and cordial work of coordinator Amy and investigator Dr Rosow. My first experience with handheld dynamometry, much quicker than an emg.
Why is this so controversial? Why are academics endorsing vague promises of “hope” over evidence things work?
We want therapies that work.
July 27, 2025 at 3:22 AM
Why is this so controversial? Why are academics endorsing vague promises of “hope” over evidence things work?
Lifelong cognitive surveillance is dystopian and it’s wild groups try to make it happen.
July 25, 2025 at 10:59 PM
Lifelong cognitive surveillance is dystopian and it’s wild groups try to make it happen.
It is accepted about 10% of people told they have ALS actually have another condition. I don’t think this encompasses people with PLS either. The discussion on appropriate time to dx those at genetic risk assumes only a 100% accurate rate is acceptable. It doesn’t make sense!
July 11, 2025 at 9:01 PM
It is accepted about 10% of people told they have ALS actually have another condition. I don’t think this encompasses people with PLS either. The discussion on appropriate time to dx those at genetic risk assumes only a 100% accurate rate is acceptable. It doesn’t make sense!
It is so sad that people will feel forced to say “nfl is no good” to counter obvious anti-scientific propaganda from well funded als non profits when in reality the nuance is “small reductions in nfl especially when not biologically explained is no good”.
July 8, 2025 at 2:34 AM
It is so sad that people will feel forced to say “nfl is no good” to counter obvious anti-scientific propaganda from well funded als non profits when in reality the nuance is “small reductions in nfl especially when not biologically explained is no good”.
Problems associated with feeling and function are never discovered by researchers. Problems with survival, sure - that’s how we find biomarkers! But only those living with the supposed impairments can verify if they are having issues with how they feel or how they function.
June 30, 2025 at 1:49 AM
Problems associated with feeling and function are never discovered by researchers. Problems with survival, sure - that’s how we find biomarkers! But only those living with the supposed impairments can verify if they are having issues with how they feel or how they function.
Gene therapy for babies for an adult onset disorder will never happen. How would you prove this drug is safe and effective? Trial plan: dose an infant, monitor for safety of development for 20 years, then check back for efficacy at 70?
June 27, 2025 at 11:44 PM
Gene therapy for babies for an adult onset disorder will never happen. How would you prove this drug is safe and effective? Trial plan: dose an infant, monitor for safety of development for 20 years, then check back for efficacy at 70?
An interesting article articulating issues with concepts of disinhibition and how it removes agency from people. The picture is more complex in BvFTD but for prodromal or even early full phenotype stages it seems an apt comparison.
aeon.co/essays/how-t...
aeon.co/essays/how-t...
How the ‘myth of Phineas Gage’ affects brain injury survivors | Aeon Essays
The misunderstood story of Phineas Gage shows that we need a new way of understanding the experiences of brain injury survivors
aeon.co
June 25, 2025 at 6:43 PM
An interesting article articulating issues with concepts of disinhibition and how it removes agency from people. The picture is more complex in BvFTD but for prodromal or even early full phenotype stages it seems an apt comparison.
aeon.co/essays/how-t...
aeon.co/essays/how-t...
I completed 3 years in the Neurofilament Surveillance Project today. My travel nurse Hope has been an excellent and skilled partner in drawing samples every 3 months. Perhaps I will see her again as part of prevent als!
June 19, 2025 at 8:12 PM
I completed 3 years in the Neurofilament Surveillance Project today. My travel nurse Hope has been an excellent and skilled partner in drawing samples every 3 months. Perhaps I will see her again as part of prevent als!
The instability of the c9 expansion is an under looked at potential harbinger of disease onset.
June 13, 2025 at 4:58 AM
The instability of the c9 expansion is an under looked at potential harbinger of disease onset.
Reposted by Jean Swidler
1 in 12 Americans live in California.
1 in 35 Americans live in LA County.
LA is America
1 in 35 Americans live in LA County.
LA is America
not the main issue here but i'd really appreciate it if democratic politicians spoke out in support of big-city life and culture with the same energy and reverence that all politicians have for small towns
los angeles is "real america" and so are all the other big cities the president hates
los angeles is "real america" and so are all the other big cities the president hates
June 9, 2025 at 12:00 AM
1 in 12 Americans live in California.
1 in 35 Americans live in LA County.
LA is America
1 in 35 Americans live in LA County.
LA is America
Take a group of people - compare them to another. Find any difference (even within normative range) and call the lower of the two cognitively impaired. Is that good science?
June 3, 2025 at 8:47 PM
Take a group of people - compare them to another. Find any difference (even within normative range) and call the lower of the two cognitively impaired. Is that good science?
When you hope your research subject are not reading what you are publishing about them - that may be a clue you are up to something a bit suspect.
May 31, 2025 at 6:34 AM
When you hope your research subject are not reading what you are publishing about them - that may be a clue you are up to something a bit suspect.
FTD researchers like to use creepy cut outs of people’s faces with out even hair to gauge how people rate the emotion the person in the image is feeling. I always felt as a human you evaluate things in context like this sign says from the Exploratorium in SF.
May 27, 2025 at 4:08 AM
FTD researchers like to use creepy cut outs of people’s faces with out even hair to gauge how people rate the emotion the person in the image is feeling. I always felt as a human you evaluate things in context like this sign says from the Exploratorium in SF.
How do you write an informed consent document when the goal of your research is to prosecute a case the people you wish to study are sub human?
May 10, 2025 at 11:26 PM
How do you write an informed consent document when the goal of your research is to prosecute a case the people you wish to study are sub human?
ALS is known for a few things - progressive motor neuron loss and phase 2 trials that have a positive clinical readout that is not replicated in A larger phase 3 powered for efficacy questions.
May 10, 2025 at 2:57 PM
ALS is known for a few things - progressive motor neuron loss and phase 2 trials that have a positive clinical readout that is not replicated in A larger phase 3 powered for efficacy questions.