iiinova — where your digital self keeps evolving

Reposted by Patti Dickson

JCI insight @insight.jci.org · 15/09/2026

The gastrointestinal symptoms that impair quality of life in childhood neurodegenerative disorders may be because bowel enteric neurons are also affected. In this Research Letter, Ziółkowska et al. characterize enteric pathology in MPSIIIA mice: doi.org/10.1172/jci.... @pattidickson.bsky.social

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Patti Dickson @pattidickson.bsky.social · 18/04/2026

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...

theguardian.com

Online abuse is silencing women on a staggering scale – it’s a democratic crisis | Sharon Kechula

The experience of a Kenyan politician who dared to have her babies abroad is far from unique, laws are not enough to make digital spaces safe for women

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Patti Dickson @pattidickson.bsky.social · 18/04/2026

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.

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Reposted by Patti Dickson

Tychele Turner @tycheleturner.bsky.social · 26/02/2026

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

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Patti Dickson @pattidickson.bsky.social · 24/02/2026

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

19thnews.org

The boys’ club: How Epstein’s influence shaped the exclusion of women in STEM

In one email, an AI researcher suggested it’s “hard to be brilliant if you are worrying if you look fat or why another woman hates you.”

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Reposted by Patti Dickson

WashU Medicine @washumedicine.bsky.social · 02/12/2025

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.

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Patti Dickson @pattidickson.bsky.social · 28/11/2025

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.

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Patti Dickson @pattidickson.bsky.social · 28/11/2025

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.

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Patti Dickson @pattidickson.bsky.social · 28/11/2025

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.

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Patti Dickson @pattidickson.bsky.social · 28/11/2025

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

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Reposted by Patti Dickson

American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 20/11/2025

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: www.ashg.org/annual-meeting-2026

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Patti Dickson @pattidickson.bsky.social · 18/10/2025

People are doing some great work.

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Patti Dickson @pattidickson.bsky.social · 17/10/2025

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

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Patti Dickson @pattidickson.bsky.social · 11/09/2025

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.

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Reposted by Patti Dickson

American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 08/09/2025

🚨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

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Patti Dickson @pattidickson.bsky.social · 15/08/2025

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?

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Patti Dickson @pattidickson.bsky.social · 15/08/2025

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)

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Patti Dickson @pattidickson.bsky.social · 17/06/2025

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.

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Reposted by Patti Dickson

American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 09/06/2025

🎊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

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Patti Dickson @pattidickson.bsky.social · 05/06/2025

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.

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Reposted by Patti Dickson

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 04/06/2025

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

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Reposted by Patti Dickson

American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 29/05/2025

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

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Reposted by Patti Dickson

Heather Mefford, MD, PhD @hcmefford.bsky.social · 27/05/2025

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...

ashg.org

Abstracts

Abstract submission for ASHG 2025. We encourage you to submit your latest research on human genetics and genomics for programming at the ASHG 2025 Annual Meeting.

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Patti Dickson @pattidickson.bsky.social · 23/05/2025

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).

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Patti Dickson @pattidickson.bsky.social · 23/05/2025

I did not read the books, but I loved the show. They never put a woman in a situation where she was powerless.

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Patti Dickson @pattidickson.bsky.social · 21/05/2025

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.

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Patti Dickson @pattidickson.bsky.social · 15/05/2025

Today is MPS awareness day. MPS refers to the genetic disorder mucopolysaccharidosis and includes Hurler, Hunter, Sanfilippo, Morquio, Maroteaux-Lamy, and Sly syndromes.

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Patti Dickson @pattidickson.bsky.social · 06/05/2025

I liked Energy Star. Energy Star wasn't hurting anybody. Why can't we keep Energy Star?

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Reposted by Patti Dickson

American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 02/05/2025

ASHG is concerned about the research cuts in the proposed U.S. FY26 budget, forecasting substantial reductions to the NIH and other agencies. We urge the U.S. Congress to reject this proposal and maintain support for life-saving biomedical research. Read More: www.ashg.org/publications... #ASHG

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Patti Dickson @pattidickson.bsky.social · 27/04/2025

I see. Do they specify exactly how they plan to keep the "riff-raff" out of the future? Pulling off this eugenicist plan on a global scale seems like it would be hard to do. Population decline via birth rate alone doesn't seem like it would work.

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Patti Dickson @pattidickson.bsky.social · 26/04/2025

Listening to the excellent talks before and after hers, I couldn't help but notice that all of the scientists they credited in their presentations seemed to be male. I wish I didn't have to wonder whether female scientists' contributions were similarly overlooked. 2/2

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Patti Dickson @pattidickson.bsky.social · 26/04/2025

At the ASCI meeting in Chicago, where I heard a superb talk from Svetlana Mojsov. It doesn't surprise me at all that she had to fight for recognition and credit. 1/2 www.science.org/content/arti...

science.org

Her work paved the way for blockbuster obesity drugs. Now, she’s fighting for recognition

Svetlana Mojsov helped discover the hormone GLP-1. Why has she been excluded from its history?

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Patti Dickson @pattidickson.bsky.social · 26/04/2025

Can you help me understand how to reconcile the pro-extinctionist, post human movement you describe with pronatalism, which Musk clearly ascribes to?

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Reposted by Patti Dickson

ACMG @theacmg.bsky.social · 25/04/2025

ACMG celebrates #DNADay25 with our members who are turning genetic & genomic discoveries into improved patient care & stronger public health. Learn more about the Human Genome Project’s completion and the discovery of the double helix: bit.ly/3K74PBB

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Reposted by Patti Dickson

American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 25/04/2025

🎉Happy #DNADay!🧬Today we celebrate the amazing impact of genetics on science, health & society by answering your questions on AI + genetic testing. Plus, we're celebrating our #DNADay25 Essay Contest winners at noon! 🏆👏 Join the convo here: redd.it/1k7i3t1 #ASHG #HumanGenetics

redd.it

From the askscience community on Reddit

Explore this post and more from the askscience community

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Patti Dickson @pattidickson.bsky.social · 25/04/2025

Do you know whether these were triaged, or administratively withdrawn? Like, would the applicant be able to tell based on how it appears in Commons?

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Reposted by Patti Dickson

WashU Medicine Genetics @washugenetics.bsky.social · 23/04/2025

Join us tomorrow for a full day event to celebrate the 50th Anniversary of the Department of Genetics at WashU Medicine! View full list of speakers and program details here: genetics.wustl.edu/department-o...

genetics.wustl.edu

Department of Genetics 50th Anniversary Symposium - Genetics

The Department of Genetics is pleased to present our 50th Anniversary Symposium! This event celebrates the history, people and scientific community here at the WashU Medicine Department of Genetics. P...

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Patti Dickson @pattidickson.bsky.social · 23/04/2025

I'm jealous that you get to contemplate these sorts of problems

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Patti Dickson @pattidickson.bsky.social · 16/04/2025

But I do wonder why so much criticism of the women vs the previous trips in the rocket by privileged and famous men.

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Patti Dickson @pattidickson.bsky.social · 08/04/2025

GeneReviews is an incredibly valuable clinical resource. I can't think of a clinic I staffed where I did not use it.

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Patti Dickson @pattidickson.bsky.social · 31/03/2025

I changed my profile picture from my face to not a face, because I was getting followed by suspicious accounts that appear to follow only or mostly accounts with female faces as their profile pics. If this does not solve the issue, the next step will be changing my handle.

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Patti Dickson @pattidickson.bsky.social · 29/03/2025

I am extremely sad to learn that Peter Marks is departing FDA. He has been such a tremendous advocate for genetic therapies and rare diseases, helping the community chart a path forwards in this difficult space. The rare disease community will feel his loss at FDA.

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Patti Dickson @pattidickson.bsky.social · 14/03/2025

Per an email today, these reviews are moving forward!

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Patti Dickson @pattidickson.bsky.social · 07/03/2025

So, the RDCRC applications were set to be reviewed by an institute-run study section. The NIH memo yesterday states those will be eliminated. No idea what happens to these grants now. Hoping they will be reviewed somehow.

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Patti Dickson @pattidickson.bsky.social · 02/03/2025

Huh, yeah, site for the PAR was down yesterday. Back today - but instruction to include a PEDP looks like it's gone.

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