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Claudia Carvalho

@claucarvalho.bsky.social
117 followers 156 following 6 posts

Scientist, Mom. Human Genetics, DNA Variation, Rare Genetic Diseases. Brasil&USA.

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Reposted by Claudia Carvalho
The American Journal of Human Genetics @ajhgnews.bsky.social · 04/06/2026
Remembering Pat Jacobs
cell.com
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...
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Reposted by Claudia Carvalho
Pacific Northwest Research Institute @pnrigenetics.bsky.social · 09/12/2025
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
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Reposted by Claudia Carvalho
Pacific Northwest Research Institute @pnrigenetics.bsky.social · 05/12/2025
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
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Reposted by Claudia Carvalho
Cartógrafo da Vida 🌎 @cartografodavida.bsky.social · 26/11/2025
Orgulho nacional ! Butantã autorizado a distribuir vacina em dose única contra a dengue. 💉🇧🇷 cbn.globo.com/saude/notici...
cbn.globo.com
Anvisa aprova vacina do Butantan contra dengue
A Butantan-DV poderá ser utilizada na população brasileira de 12 a 59 anos
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Reposted by Claudia Carvalho
Stephen Montgomery @sbmontgom.bsky.social · 12/11/2025
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...
nature.com
GREGoR: accelerating genomics for rare diseases - Nature
The GREGoR consortium provides foundational resources and substrates for the future of rare disease genomics.
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Reposted by Claudia Carvalho
Dr. Jey McCreight 🏳️‍⚧️🧬 @jeymccreight.bsky.social · 14/10/2025
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
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Reposted by Claudia Carvalho
bioRxiv Genomics @biorxiv-genomic.bsky.social · 14/10/2025
A telomere-to-telomere map of somatic mutation burden and functional impact in cancer www.biorxiv.org/content/10.1101/202…
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Reposted by Claudia Carvalho
Mark A. Hanson @hansonmark.bsky.social · 03/06/2025
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.
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Reposted by Claudia Carvalho
Mark Peifer (He, him) @peiferlabunc.bsky.social · 21/05/2025
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
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Reposted by Claudia Carvalho
Pacific Northwest Research Institute @pnrigenetics.bsky.social · 04/04/2025
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
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Reposted by Claudia Carvalho
GREGoR Consortium @gregor-research.bsky.social · 20/03/2025
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
pubmed.ncbi.nlm.nih.gov
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...
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Reposted by Claudia Carvalho
Dare Obasanjo @carnage4life.bsky.social · 09/03/2025
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.
restoredcdc.org
Centers for Disease Control and Prevention
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Claudia Carvalho @claucarvalho.bsky.social · 07/03/2025
#StandupforScience
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Claudia Carvalho @claucarvalho.bsky.social · 07/03/2025
Stand up for Science in Seattle!
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Reposted by Claudia Carvalho
Michael Metzger @metzgerm.bsky.social · 05/03/2025
Tom Maniatis: “If the NIH indirect cost reimbursement rates are capped at 15%, small independent research institutions like the NYGC will be shuttered…”
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Reposted by Claudia Carvalho
Pacific Northwest Research Institute @pnrigenetics.bsky.social · 06/03/2025
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...
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Reposted by Claudia Carvalho
Harmit Singh Malik @harmitmalik.bsky.social · 04/03/2025
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.
eventbrite.com
Stand Up for Science 2025 - Seattle, WA
Stand up for science with us on March 7th, 2025, because science is for everyone! More info at www.standupforscience2025.org
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Reposted by Claudia Carvalho
Michael Metzger @metzgerm.bsky.social · 25/02/2025
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.
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Reposted by Claudia Carvalho
Jeremy Berg @jeremymberg.bsky.social · 21/02/2025
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
media.tenor.com
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
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Reposted by Claudia Carvalho
Itai Yanai @itaiyanai.bsky.social · 15/02/2025
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
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Reposted by Claudia Carvalho
Pacific Northwest Research Institute @pnrigenetics.bsky.social · 06/02/2025
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
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Reposted by Claudia Carvalho
Pacific Northwest Research Institute @pnrigenetics.bsky.social · 01/02/2025
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
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Reposted by Claudia Carvalho
Pacific Northwest Research Institute @pnrigenetics.bsky.social · 31/01/2025
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
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Reposted by Claudia Carvalho
Pacific Northwest Research Institute @pnrigenetics.bsky.social · 24/01/2025
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
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Reposted by Claudia Carvalho
Michael Metzger @metzgerm.bsky.social · 22/01/2025
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!
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Reposted by Claudia Carvalho
Pacific Northwest Research Institute @pnrigenetics.bsky.social · 17/01/2025
📣 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
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Reposted by Claudia Carvalho
Pacific Northwest Research Institute @pnrigenetics.bsky.social · 14/01/2025
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...
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Reposted by Claudia Carvalho
Pacific Northwest Research Institute @pnrigenetics.bsky.social · 06/01/2025
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.
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Claudia Carvalho @claucarvalho.bsky.social · 02/01/2025
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!
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Reposted by Claudia Carvalho
Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social · 23/12/2024
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
t.co
https://biorxiv.org/cgi/content/short/2024.01.29.577884v1
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Reposted by Claudia Carvalho
Pacific Northwest Research Institute @pnrigenetics.bsky.social · 19/12/2024
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
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Reposted by Claudia Carvalho
Moez Dawood @moezdawood.bsky.social · 20/12/2024
🚨 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! 🧬
arxiv.org
GREGoR: Accelerating Genomics for Rare Diseases
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...
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Claudia Carvalho @claucarvalho.bsky.social · 18/12/2024
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....
genomemedicine.biomedcentral.com
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression - Genome Medicine
Background MECP2 Duplication Syndrome, also known as X-linked intellectual developmental disorder Lubs type (MRXSL; MIM: 300260), is a neurodevelopmental disorder caused by copy number gains spanning ...
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