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

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

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...

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?

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

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...

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

🎉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

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...

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

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.

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.

Washington University-led research shows a small group of participants in an Alzheimer’s study experienced a significant delay in the onset of symptoms.

Per an email today, these reviews are moving forward!

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.

The event was in conjunction with the Data Rescue Project, an effort that has identified data at high risk of loss, and tapped volunteers to find, curate and save it.

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.

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.

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...

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.

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

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.

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.

This is the most wretched campaign of deliberate, explicit persecution the United States has perpetrated against a minority group in decades. Many of the most important people in politics and journalism are busying themselves trying to figure out how little to say or do about it.

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...

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?

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.

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

i need a hero...

It’s definitely the better option

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

Worth a read.

Hi guys, calling a woman a "Karen" or a "stuck pig" is sexist. Keep it clean, y'all.

If you want more context for indirect costs, this by Christopher Newfield is good

NIH research is supported among both political parties, it saves lives, generates revenue, helps us lead in discovery and education - why are we going after the NIH? How is this compatible with making America great???

The deadline is approaching to submit a Featured Symposium proposal for #ASHG2025 in Boston! (only four days away) This is your chance to showcase your fave genetics topics. Some of the best symposia have been organized by trainees, so don't be shy! Feel free to reach out for more info or advice.

GeneReviews was pretty slow today and at one point I got an error message loading a page. Does anyone know if things are OK there?

We're funded by #NIHfundsgreatscience to study fatal, neurodegenerative, lysosomal disorders of childhood. @altnih4science.bsky.social @battenpsdl.bsky.social medicine.washu.edu/news/8-milli...

Where does the revenue generated by the tariffs go (to what account) and what would it be used for?

Just received word that the NIH study section to review U54 Rare Disease Clinical Research Consortia applications has been canceled, and that they will let us know when it is rescheduled. These are critical, clinical research programs with patient advocacy partnership.