Had no idea that dystrophin was this stable? Does it ever go way? Or is the allele a bit leaky?

Young boy holding a bat in a baseball uniform

Epilepsy Awareness Month Facts: Children with ULD (EPM1) can play sports, excel at school, run, jump and swim, UNTIL ONE DAY, usually between the ages of 6 and 15, the seizures begin...
www.hopeforuld.org/our-stories #unverrichtlundborgdisease #RareEpilepsy #GeneTherapy #epm1 #PME #epilepsyawareness

When an attending calls another attending to review a case, direct extensions/cell numbers should be provided. No one (actually, no one ever) should be calling a central number, choosing options, then getting put on hold 🫠

The loss of dreams. The loss of abilities. The loss of freedom. The loss of a pain-free life. And because the disease is progressive, things get worse. This is why Hope for ULD exists.

Super Refractory Status Epilepticus Diagnosis, Management, and Prognostication Dr. Alison Christy talks with Dr. Matthew Ryan Woodward about the complexities of status epilepticus, focusing on its definitions, the transition to refractory and super-refractory states, and the imp...

Why do neurologists come up with different ideas about prognosis and treatment - at the same institution - for super-refractory status epilepticus?
It was fascinating to talk to Matt Woodward about clinical variability on the AAN Neurology podcast! directory.libsyn.com/episode/inde...

Are the year in reviews recorded somewhere? Had to leave early unfortunately.

Jenna Norton, PhD - (NIH, Bethesda Declaration organizer, mom) *speaking in her personal capacity YouTube video by Civil Servants Coalition

"As a federal worker, I am here to tell you that every awful thing that would happen in a shutdown—shuttering programs that Americans rely on, damaging our economy, firing federal workers—all of this is already happening."

youtu.be/jw93RKKreqY?...

Mark Histed, NIH Scientist *speaking in personal capacity YouTube video by Civil Servants Coalition

Federal workers are speaking out on how the Trump regime is harming Americans:

"We stand here today at a moment of the greatest assault of our lifetimes on our freedoms. The US Constitution is being shredded... We are here to call on Congress to stand up and stop it."

youtu.be/uw1KwIBgrCw?...

Wow. This is amazing work; especially as more and more remote natural histories take place. Thanks.

Y'all who don't know how academic research works:

FYI, I'm giving up 1/4 of my salary (so-called summer salary) so I can buy reagents for my research lab since my main NIH grant is suspended and may never be released back to me.

Needless to say, I'm still working my usual 60+ hr/wk, regardless.

PERF® Announces a New Bridge Grant Program The SPARK Grant: Supporting Pediatric Neurology Advances through Research in K-Awards For early-stage investigators who are re-applying for NIH K08 or K23 Career Development Awards or the CNCDP-K12 Career Development Program.

GOOD NEWS re: GRANT FUNDING:

The Pediatric Epilepsy Research Foundation (PERF) has a new grant program designed to support early-stage investigators, helping bridge the gap between 1st K award submission and resubmission.
Deadline Aug 7!
www.pediatricepilepsyresearchfoundation.org/perf-announc...

The AI that we really need is one that changes your CV from 1 highly specific format to another.

All of NIH funding to Northwestern University is frozen. This pause includes noncompeting approved funding, new and competing grants with fundable scores. No reimbursements for money already spent have been received since March. This situation is rarely reported so please Please get the word out!

Please share

Please share

How do you keep it preserved?

Thank you for calling out bad science. I remember the early day of academic twitter used to have this.

Six masked agents in street clothes disappearing a Tufts Ph.D. student in broad daylight on the streets of Somerville. There is video footage out there every person should watch.

Musk’s status as a “special government employee” limits him to 130 days in the executive branch. However, despite working daily—documented by his own X posts—they claim he only works one day a week, effectively stretching his limit to 130 weeks. This needs to be brought to Congress—please share.

This is Marco Rubio explaining how the USA promised to defend Ukraine forever if they got rid of their nuclear arsenal left after the Soviet Union fell.

This is why lil marco was sinking into the couch. He was hoping we wouldn’t find it…so don’t RT right now this very second.

Important words from an organization that is funding ULD/EPM1 research! # unverrichtlundborgdisease #epm1 #RareEpilepsy #genetherapy epilepsynewengland.org/news/my-stor...

Unverricht-Lundborg Disease | Hope for ULD | 501(c)(3) nonprofit Hope for ULD is a nonprofit that raises funds for gene therapy research to treat Unverricht-Lundborg Disease (ULD), a heritable, degenerative myoclonus epilepsy.

Want the latest research news? Sign up to get our occasional email updates. You can subscribe at the bottom of any page on our website! Check it out! www.hopeforuld.org #epm1 #uld #unverrichtlundborgdisease #genetherapy #RareEpilepsy #hopeforuld

Adams must be removed. The city cannot sustain being governed for nearly a year by a Mayor who is being coerced by Trump admin in order to escape charges.

This corruption poses a real threat to the people of the city. He should have resigned a while ago, but will not. So it’s time for him to go.

As outcry builds over Trump cuts to NIH payments, drugmakers are MIA Drugmakers — major beneficiaries of NIH-backed university research — have been largely silence on the Trump administration's cuts to agency research payments.

She's not alone.. The silence from biotech and pharma CEOs — $AMGN $LLY $REGN $GILD — is (to use a cliché) deafening.

Read the story here:

www.statnews.com/2025/02/11/n...

This is incredible Sarah. Any idea why no satellite cells?

- CRID facilitates collaboration/data sharing in rare disease research by providing a unique, universal identifier.
- It reduces patient burden, such as "survey fatigue".
- Adoption of CRID globally could accelerate research progress by overcoming geographical and institutional barriers.

1/Have you been cutting corners when it comes to coronal anatomy?
 
Do you just say a lesion is in the inferior frontal region & hope no one asks for details?
 
It’s time to turn the corner on coronal anatomy
 
Open this thread for an easy way to remember this frontal anatomy you need to know!

This was one of the highlights of my PhD career. Strongly recommend anyone who can make it.

CRID could benefit greatly from additional funding, but it seems unlikely to receive support from the EC Horizon Europe Framework Programme (HORIZON). Sometimes, particularly with rare diseases, commercial sustainability should not be a determining criterion. #EndDataSilos #Horizon #EC