Francis Collins encouraging scientists to not only reach out to their reps about the importance of their research, but to use personal stories - not just stats and graphs Science communication and advocacy going to be a theme this week - glad I'm here! #ASHG25

A telomere-to-telomere map of somatic mutation burden and functional impact in cancer https://www.biorxiv.org/content/10.1101/2025.10.10.681725v1

URGENT: FlyBase has lost practically all its funding overnight; even user fees are tied up in denied grant funding. 🤬🤯 Any lab using @flybase.bsky.social please donate using the link in post below. This incredible community, on whose backs our #Drosophila labs depend, can't be left out to dry.

Scientists--Share your story! We need the nation to know what is at stake if the NIH is gutted. It's therapeutic and takes just a few minutes

New on YouTube: March's Science Matters seminar is live! Dr. Richard Gibbs from Baylor College of Medicine dives into how genetics and genomics are transforming digital medicine. Watch now: www.youtube.com/watch?v=4YPV... #ScienceMatters #PNRIgenetics

At #ACMG25? 🧬 Don't miss @moezdawood.bsky.social presenting "GREGoR: Accelerating Genomics for Rare Diseases" Friday 3/20 at 1:30pm PST Platform Session 8 Preprint here: pubmed.ncbi.nlm.nih.gov/39764392/ #Genomics #Research #Collaboration @gregor-research.bsky.social

The coolest thing I’ve seen today is that a bunch of volunteer public health professionals and developers have restored the CDC website from before January 20th 2025. This differs from an archive in that they want to rebuild the links between pages and replicate the full website.

Stand up for Science in Seattle!

Tom Maniatis: “If the NIH indirect cost reimbursement rates are capped at 15%, small independent research institutions like the NYGC will be shuttered…”

Discover how genetics and genomics are advancing digital medicine with Dr. Richard Gibbs from @BaylorMed at PNRI’s FREE virtual Science Matters Seminar. Register now: events.zoom.us/ev/AiPGWt1c7...

Hope to see many of my colleagues on Friday. www.eventbrite.com/e/stand-up-f... Science is for everyone. For everyone to do, and for everyone to benefit from. Weather forecast has also improved for Friday, but waterproof your posters just in case.

I’d like to see more about impacts on research institutes—Salk, Fred Hutch, Stowers, Allen Institute, Moffitt, etc. Universities are huge and would be heavily hurt, but if the cuts to 15% for research facilities costs goes through, I don’t see how any research institutes can survive at all.

ATTENTION: If you have received a NoA from NIH within the last 10 days, please let me know the grant number and award date. I am trying to characterize the time lag between awards and NIH Reporter. DM me if you wish or just reply

We have to stand up for science! Anyone who can join these rallies and believes that US science must be protected should come! @standupforscience.bsky.social

Wow! Our Rare Disease Day 2025 event reached capacity even faster than expected, and we can no longer accept RSVPs. Thank you for your enthusiasm! Stay tuned for event highlights and more ways to support rare disease research. 💜 #RareDiseaseDay #RDD2025 #RareDiseaseResearch

Deadline EXTENDED! Researchers, submit your poster for PNRI's Rare Disease Research Symposium by Feb. 7! Don't miss this chance to present your work on February 28, 2025, at @SeattleChildren’s Research Institute. Submit here: PNRI.org/rarediseaseday2025 #RareDisease #GeneticResearch #PosterSession

RSVP Extended to Feb. 7! There’s still time to RSVP for PNRI’s rare genetic disease research symposium on Feb. 28! Admission is FREE, but RSVPs are required & seats are limited for this in-person only event! RSVP now at: pnri.org/rarediseaseday2025 #RareDiseaseResearch #PNRI #RSVP

Be part of history! 🌟 Join us Feb. 28 for Seattle’s 1st-ever rare disease research symposium at Seattle Children’s Research Institute. 🧬 Hear from top researchers, clinicians & advocates advancing rare disease care.🎥 See the lineup & register for FREE at: pnri.org/rarediseaseday2025 #RDD2025

If you want to share something good today, please share the link to our application for summer undergraduate research internships at PNRI! Open until Feb 28. Work with yeast, clams, humans, and more. We would love to have you join us!

📣 Undergrads, this one’s for you! Applications are open for PNRI’s 2025 Summer Undergraduate Research Internship (SURI). 🌟 Join us to gain hands-on research experience and work alongside top scientists. Learn more and apply at: pnri.org/about/suri/ #SummerInternship #ResearchInternship #STEM

You’re invited! Join us on Feb 28, for a Rare Disease Day scientific symposium hosted by PNRI, Seattle Children's Research Institute and UW.Talks, posters, networking & reception—celebrating Seattle’s #raredisease community! FREE admission. RSVP required by 1/31 at: pnri.org/rarediseased...

Happy New Year from PNRI’s Science Matters Seminars! All recorded seminars are now available on our YouTube channel @PNRIgenetics. Be sure to check out our latest seminar with Dr. Cecilia Poli! Don’t miss out on the lineup of speakers for 2025, visit pnri.org/ScienceMatters more.

Interested in finding pair of repeats leading to DNA structural variation and disease? Check out where they map at HGGA online. Great collaboration with @cgonzagaj.bsky.social lab!

Got an early Christmas gift this morning!!! Super happy that our article on analyses of intrachromosomal repeated sequences that can mediate ectopic recombination rearrangements in the human genome has been accepted for publication!!! Looking forward to sharing it very soon!!! 🤩🎁 t.co/bvIoMFy7Cn

Calling all rare disease researchers, clinicians & advocates! Join us on Feb 28, 2025, for a FREE Rare Disease Day symposium in Seattle. Talks, posters & a reception—connect, share, & collaborate! RSVP & submit poster details by Jan 31 at: pnri.org/rarediseaseday2025 #RareDiseaseDay #RDD2025

🚨 Excited to announce the Marker paper for the GREGoR Consortium! arxiv.org/abs/2412.14338 Accelerating #RareDisease diagnostics with cutting-edge #Genomics and global data sharing of omics and deep phenotyping from ~7500 individuals on NHGRI AnVIL and much more to come! 🧬

Genomic duplications involving MECP2 are surprisingly complex and affect almost half of patients. Importantly, complexity contributes to gene expression and clinical variability. @pnrigenetics.bsky.social @gregor-research.bsky.social genomemedicine.biomedcentral.com/articles/10....