This article really got to me. We have to keep speaking up and look out for each other as we do so.
Online abuse is silencing women on a staggering scale – it’s a democratic crisis | Sharon Kechula www.theguardian.com/global-devel...
If we fail to create and sustain a system in which it is economically feasible to develop effective therapies for very rare diseases, then we are agreeing to live in that society. Think about whether you are OK with that. Think about what happens when it's your child.
WashU Rare Disease Day was wonderful today. Stephanie Snow-Gebel gave my favorite talk, and this quote really stuck with me: “Awareness is not vanity. It’s velocity!” 🔥
@rarediseaseday.bsky.social
@pattidickson.bsky.social
#SnowFoundation
I highly recommend this excellent read. And if you aren't regularly browsing 19thnews you are missing out on unique perspectives not otherwise easily found.
The boys’ club: How Epstein’s influence shaped the exclusion of women in STEM 19thnews.org/2026/02/epst... via @19thnews.org
Sanfilippo syndrome cuts children's lives short — but research by Patti Dickson and team is determined to change the course of this rare genetic disease. Learn more about the work being done to rewrite the future of pediatric neurodegenerative diseases.
When we restricted restoration of the corrective enzyme to brain neurons, brain HS normalized as did CSF HS, without impacting HS levels in the bloodstream. We interpret the results of these murine experiments as suggesting that CSF HS reflects HS in the brain in neuronopathic MPS disorders.
We designed a set of mouse experiments to determine whether reducing heparan sulfate systemically, including in the bloodstream, might cause the reduction in CSF heparan sulfate. We restricted corrective enzyme to the body and found that lowering blood HS had no effect on CSF HS.
We had observed that CSF heparan sulfate decreased in MPS I patients treated with enzyme replacement therapy, despite that ERT is thought not to cross the blood brain barrier.
Our paper is out in @jci.org! Congratulations to Steven Le for outstanding work as always, Al Sorensen, Gianna Jewthurst, Soila Sukupolvi, Grant Austin, Raj Doray, and Jon Cooper @battenpsdl.bsky.social
Lead the next conversation in #HumanGenetics! Submit a proposal for Featured Symposia or an Interactive Workshop for the chance to redefine discussions on model organisms, clinical care, ethical AI, & more. Help shape what’s next—Submit by Jan 20, 2026: https://www.ashg.org/annual-meeting-2026/
People are doing some great work.
It's so fun to be at a genetics meeting and overhear people saying the stuff that people usually look at you funny for when you say it in the regular world #ASHG25
It is important to remember that headlines are chosen by the editor, not the journalist or columnist. They can color your perception of the article, especially if you don't read past the headline into the article's text.
🚨Last chance alert: Reduced #ASHG25 rates end tomorrow at 5 PM U.S. ET! Your registration connects you with thousands of #humangenetics and genomics professionals worldwide, sparking collaborations, insights, & unforgettable experiences. Save now: meetings.ashg.org/event/ASHG25... #ASHG
Third, since 1 in 10 people have a rare disease, chances are you or someone you care about is impacted by them, so why would you want to discourage folks from working on them?
Please don't tell trainees not to study rare diseases, because it lacks prestige or funding. First, it isn't true, and I and many others have built successful careers studying rare diseases. Second, it's incredibly rewarding, and if they are passionate about it, that is going to propel them (cont)
The NIH just canceled the July 7 deadline for the U54 Rare Disease Clinical Research Consortia applications (RDCRN). Notice still lists the October submission due date.
🎊Good news—you’ve got a bit of extra time to submit your abstract for #ASHG25!
New deadline: June 10, 5 PM U.S. ET
Take this extra time to:
✔️ Refine your content
✔️ Review submission guidelines
✔️ Hit “submit” with confidence
Submit today: www.ashg.org/meetings/202... #ASHG #HumanGenetics
The new RDCRN U54 NOFO is out. I received it from my grants office as a pdf. No idea whether or where it is posted.
How long does it take to diagnose MLD?
New data show the median delay is over 2 years. Most kids already show significant neuro decline before diagnosis.
doi.org/10.1002/jimd.70049
#MLD #RareDisease #JIMD #MetabolicMedicine
HEY!
The countdown is on—abstract submissions for #ASHG25 close in 11 days!
🔬 Share your research.
🤝 Build your network.
✨ Inspire your field.
🗓️ Submit now: www.ashg.org/meetings/202...
#ASHG #HumanGenetics
Congratulations Susan!
It's that time of year! Submit your fabulous 🧬 science for #ASHG25 in Boston! ABSTRACTS DUE 🗓️ JUNE 9! We'd love to see you there @geneticssociety.bsky.social
Submit your science and remind your friends to do the same!
www.ashg.org/meetings/202...
Not the same. You have to think from our perspective about the types of scenes we often have to watch, the positions we are put in, the roles we have in advancing the narrative. This was a show where women had power really in every situation (even when cut off from the source).
I did not read the books, but I loved the show. They never put a woman in a situation where she was powerless.
I wish people would stop referring to the state and local tax deduction as "SALT." People don't understand that's what you are talking about, and they would care more if they did.
Today is MPS awareness day. MPS refers to the genetic disorder mucopolysaccharidosis and includes Hurler, Hunter, Sanfilippo, Morquio, Maroteaux-Lamy, and Sly syndromes.
I liked Energy Star. Energy Star wasn't hurting anybody. Why can't we keep Energy Star?
