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

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 · 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

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 · 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 · 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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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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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 · 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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Reposted by Patti Dickson

Kerry Larkin @kerrylarkin20.bsky.social · 28/02/2025

BUT since it is still worldwide Rare Disease Day, it's a great opportunity to call your reps and express your opinions about NIH funding cuts, as NIH/NCATs is a leader in rare disease research.

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Patti Dickson @pattidickson.bsky.social · 28/02/2025

In honor of #RareDiseaseDay today, I would ask that NCATS be allowed access to the Federal Register to reschedule study sections that have been canceled. These include those reviewing the U54 RDCRC's and URGeNT applications.

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Reposted by Patti Dickson

Carolyn Bertozzi @carolynbertozzi.bskyverified.social · 27/02/2025

Very sad to see that #RareDiseaseDay event at FDA-NIH has been cancelled. Cuts that limit rare disease research and cures (1) leave patients behind, and (2) forfeit precious opportunity to learn more about common human diseases. udnf.org/udnf-stateme...

udnf.org

Statement on Rare Disease Day, Research and Funding - UDNF

UDNF Statement on Rare Disease Day 2025 Cancellation, Research Funding, and Policy Impacts on the Ultra-Rare and Undiagnosed Community

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Reposted by Patti Dickson

American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 28/02/2025

At #ASHG, we recognize the power of #humangenetics & genomics research in advancing rare disease diagnosis, treatment, and advocacy. In celebrating #RareDiseaseDay, let's push the boundaries of discovery and support the millions of people living with rare genetic conditions.

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Patti Dickson @pattidickson.bsky.social · 26/02/2025

I'm pretty sure I've seen this episode of Babylon 5 that we're living in right now

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Patti Dickson @pattidickson.bsky.social · 24/02/2025

Friday February 28 is Rare Disease Day. The FDA-NIH Rare Disease Day was postponed. The U54 Rare Disease Clinical Research Consortia grant applications were originally scheduled for review 2/3 but the review has not been able to be rescheduled. Rare diseases together affect 1 in 10 Americans.

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Patti Dickson @pattidickson.bsky.social · 24/02/2025

In this picture, Mr. Bongino is wearing a Folds of Honor T-shirt. Folds of Honor is a terrific charity. Its website states that "Among the students served, 45 percent are minorities." I hope that Mr. Bongino and others in this administration will recognize that diversity is compatible with merit.

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Reposted by Patti Dickson

American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 17/02/2025

ASHG is deeply troubled by the recent layoffs at a number of agencies. The impact on scientific progress and innovation is profound and alarming. Read our statement: www.ashg.org/publications...

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Reposted by Patti Dickson

Rosa Lafer-Sousa @rosalafersousa.bsky.social · 16/02/2025

What can we do to get Science Magazine to drop their paywall for a while, while all this critically important news is being reported on? The public needs to know. Great journalists are covering these stories. where will they and the magazine be without the scientists and the research?

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Patti Dickson @pattidickson.bsky.social · 15/02/2025

Can someone please tell me the source for the argument that I am hearing that universities would have all the money they need if they only invested their endowments - as if they weren't already doing that. Does anyone know where this is coming from? I want to understand.

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Patti Dickson @pattidickson.bsky.social · 15/02/2025

Political articles should be free to read right now. Please suspend their pay walls. People need to know what's going on.

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Reposted by Patti Dickson

Rapunzl347 @rapunzl347.bsky.social · 10/02/2025

It’s definitely the better option

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Patti Dickson @pattidickson.bsky.social · 10/02/2025

At this point I would instead like to live in the Wheel of Time world; IDC if I get eaten by a trolloc

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