Remembering Pat Jacobs

Patricia A. Jacobs (1934–2026)

Patricia Ann Jacobs died on the March 15, 2026, aged 91 years. In her late 80s, she developed Alzheimer disease, and her final three years were spent in a nursing home until she died shortly after suf...

cell.com

What can precision #genomics uncover in one of the world’s most genetically diverse populations? Tomorrow, Dec. 10, 10-11am PT Dr. Shahida Moosa explores how South Africa is using exome/genome sequencing, long-read tech & RNAseq to diagnose #rarediseases. Register today at: bit.ly/48xCMtj

South Africa is pioneering omics-driven #precisioncare —bringing long-needed answers to families facing #rare and #undiagnosed conditions. Join PNRI on Dec. 10 at 10am PT when w/Dr. Shahida Moosa explores how layered #genomic tools are reshaping #diagnosis and care. Register at: bit.ly/48xCMtj

Orgulho nacional ! Butantã autorizado a distribuir vacina em dose única contra a dengue. 💉🇧🇷 cbn.globo.com/saude/notici...

Anvisa aprova vacina do Butantan contra dengue

A Butantan-DV poderá ser utilizada na população brasileira de 12 a 59 anos

cbn.globo.com

Read about our efforts in the NHGRI's GREGoR Consortium to tackle some of the hardest-to-solve rare disease diagnoses. Online now www.nature.com/articles/s41...

GREGoR: accelerating genomics for rare diseases - Nature

The GREGoR consortium provides foundational resources and substrates for the future of rare disease genomics.

nature.com

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.

Marc Dionne@marcsdionne.bsky.social · last yr.

My lab studies bacterial infections. We spend a lot of time looking at (or for) species-specific genetic and genomic databases for hosts and microbes. FlyBase is the best of all—there is literally no comparison. Its existence is under threat. Please donate. www.philanthropy.cam.ac.uk/give-to-camb...

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

Stand Up for Science!@standupforscience.net · last yr.

Behind every cure, every breakthrough, every treatment — is someone who needed it. If NIH funding helped you, your research, or someone you love, your story can help protect it. Share your “why” and help defend the future of NIH & science. Fill out the form here: docs.google.com/forms/d/e/1F...

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

GREGoR: Accelerating Genomics for Rare Diseases - PubMed

Rare diseases are collectively common, affecting approximately one in twenty individuals worldwide. In recent years, rapid progress has been made in rare disease diagnostics due to advances in DNA seq...

pubmed.ncbi.nlm.nih.gov

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.

#StandupforScience

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…”

Cell Press@cellpress.bsky.social · 2y ago

Following the NIH decision to cap funding for indirect cost reimbursements at 15%, @nygenome.org Scientific Director Tom Maniatis calls for swift, united action. cell.com/cell/fulltex... Read his Commentary now in @cp-cell.bsky.social

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

a man holding a cup with the words wake up and smell the data on the bottom

ALT: a man holding a cup with the words wake up and smell the data on the bottom

media.tenor.com

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!

Pacific Northwest Research Institute@pnrigenetics.bsky.social · 2y ago

📣 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

📣 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!

Human Genetics and Genomics Advances@hggadvances.bsky.social · 2y ago

📢Online now! 📰Genome-wide maps of highly-similar intrachromosomal repeats that can mediate ectopic recombination in three human genome assemblies 🧑‍🤝‍🧑 @cgonzagaj.bsky.social @claucarvalho.bsky.social & colleagues 👉 bit.ly/3DBKbMt

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