Claudia Carvalho
@claucarvalho.bsky.social
Scientist, Mom. Human Genetics, DNA Variation, Rare Genetic Diseases. Brasil&USA.
Reposted by Claudia Carvalho
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.
www.nature.com
November 12, 2025 at 4:59 PM
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...
Reposted by Claudia Carvalho
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
Science communication and advocacy going to be a theme this week - glad I'm here! #ASHG25
October 14, 2025 at 9:01 PM
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
Science communication and advocacy going to be a theme this week - glad I'm here! #ASHG25
Reposted by Claudia Carvalho
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
October 13, 2025 at 11:33 PM
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
Reposted by Claudia Carvalho
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.
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.
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...
www.philanthropy.cam.ac.uk/give-to-camb...
Drosophila Genetic Database
The Drosophila Genetic Database, FlyBase, is on the brink of collapse due to the sudden termination of the FlyBase NIH grant, which includes salaries for 5 literature curators based at the University ...
www.philanthropy.cam.ac.uk
June 3, 2025 at 5:20 PM
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.
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.
Reposted by Claudia Carvalho
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
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...
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...
Share Your “Why” In Support of a Strong National Institutes of Health
United for Medical Research (UMR) is launching a campaign called "My Why" to highlight the critical role of NIH funding and its impact on the education and careers of researchers and scientists as wel...
docs.google.com
May 21, 2025 at 7:19 PM
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
Reposted by Claudia Carvalho
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
Watch now: www.youtube.com/watch?v=4YPV...
#ScienceMatters #PNRIgenetics
April 3, 2025 at 11:30 PM
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
Watch now: www.youtube.com/watch?v=4YPV...
#ScienceMatters #PNRIgenetics
Reposted by Claudia Carvalho
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
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
March 20, 2025 at 8:21 PM
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
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
Reposted by Claudia Carvalho
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.
This differs from an archive in that they want to rebuild the links between pages and replicate the full website.
Centers for Disease Control and Prevention
restoredcdc.org
March 9, 2025 at 1:11 PM
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.
This differs from an archive in that they want to rebuild the links between pages and replicate the full website.
March 7, 2025 at 8:26 PM
Stand up for Science in Seattle!
March 7, 2025 at 8:24 PM
Stand up for Science in Seattle!
Reposted by Claudia Carvalho
Tom Maniatis: “If the NIH indirect cost reimbursement rates are capped at 15%, small independent research institutions like the NYGC will be shuttered…”
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
Read his Commentary now in @cp-cell.bsky.social
March 5, 2025 at 8:36 PM
Tom Maniatis: “If the NIH indirect cost reimbursement rates are capped at 15%, small independent research institutions like the NYGC will be shuttered…”
Reposted by Claudia Carvalho
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...
March 6, 2025 at 6:15 PM
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...
Reposted by Claudia Carvalho
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.
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.
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
www.eventbrite.com
March 4, 2025 at 9:27 PM
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.
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.
Reposted by Claudia Carvalho
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.
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.
February 25, 2025 at 5:24 PM
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.
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.
Reposted by Claudia Carvalho
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
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
February 21, 2025 at 7:55 PM
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
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
Reposted by Claudia Carvalho
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
February 15, 2025 at 7:51 PM
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
Reposted by Claudia Carvalho
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
February 6, 2025 at 12:33 AM
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
Reposted by Claudia Carvalho
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
Submit here: PNRI.org/rarediseaseday2025
#RareDisease #GeneticResearch #PosterSession
February 1, 2025 at 8:37 PM
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
Submit here: PNRI.org/rarediseaseday2025
#RareDisease #GeneticResearch #PosterSession
Reposted by Claudia Carvalho
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
#RareDiseaseResearch #PNRI #RSVP
January 31, 2025 at 8:21 PM
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
#RareDiseaseResearch #PNRI #RSVP
Reposted by Claudia Carvalho
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
#RDD2025
January 24, 2025 at 6:02 PM
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
#RDD2025
Reposted by Claudia Carvalho
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!
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
#SummerInternship #ResearchInternship #STEM
January 22, 2025 at 1:59 AM
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!
Work with yeast, clams, humans, and more. We would love to have you join us!
Reposted by Claudia Carvalho
📣 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
#SummerInternship #ResearchInternship #STEM
January 17, 2025 at 11:29 PM
📣 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
#SummerInternship #ResearchInternship #STEM
Reposted by Claudia Carvalho
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...
January 14, 2025 at 12:15 AM
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...
Reposted by Claudia Carvalho
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.
@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.
January 6, 2025 at 9:27 PM
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.
@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!
📢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
📰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
January 2, 2025 at 8:45 PM
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!