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Posts by Johanna Smith

Are you interested in understanding how social and structural determinants of health influence estimates of genetic risk? Looking for figures for teaching these concepts?

Check out our work on considerations for modeling them together, led by Sara Cromer and Dave Conti with @prsmethods.bsky.social

1 month ago 22 12 0 0
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Recommendations for responsible use of population descriptors in polygenic risk score development - Nature Genetics In this Perspective, authors from the Polygenic Risk Methods Development (PRIMED) Consortium highlight the ethical and analytical impact of population descriptors in polygenic risk score development a...

📢 New from the @prsmethods.bsky.social consortium, "Recommendations for responsible use of population descriptors in polygenic risk score development"! H/t to leads @johannalsmith.bsky.social and Quan Sun

www.nature.com/articles/s41...
in @natgenet.nature.com

4 months ago 3 2 0 0

Congratulations to @prsdiversity.bsky.social researchers @eimearekenny.bsky.social and @genandgenes.bsky.social, featured in @geneticssociety.bsky.social #WomensHistoryMonth

1 year ago 5 2 0 0
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Hi all! I wanted to give a brief update to say I've obtained a project management certification and am looking forward to applying it in future scientific roles! #projectmanagement #genomics

1 year ago 1 0 0 0

It isn't about efficiency.

It's about control.

1 year ago 9 4 0 0
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Welcome to the Bluesky account for Stand Up for Science 2025!

Keep an eye on this space for updates, event information, and ways to get involved. We can't wait to see everyone #standupforscience2025 on March 7th, both in DC and locations nationwide!

#scienceforall #sciencenotsilence

1 year ago 11479 5423 291 668
Dr. Collins noted that when he was recruited to the institutes, and through many of the years that followed, “investment in medical research was seen as a high priority and a nonpolitical bipartisan effort — saving countless lives, relieving human suffering and contributing substantially to the U.S. economy.”

“N.I.H. is the largest supporter of biomedical research in the world,” he wrote. “It is the main piston of a biomedical discovery engine that is the envy of the globe. Yet it is not a household name. It should be.”

He went on: “When you hear about patients surviving stage 4 cancer because of immunotherapy, that was based on N.I.H. research over many decades. When you hear about sickle-cell disease being cured because of CRISPR gene editing, that was built on many years of research supported by N.I.H.”

Dr. Collins noted that when he was recruited to the institutes, and through many of the years that followed, “investment in medical research was seen as a high priority and a nonpolitical bipartisan effort — saving countless lives, relieving human suffering and contributing substantially to the U.S. economy.” “N.I.H. is the largest supporter of biomedical research in the world,” he wrote. “It is the main piston of a biomedical discovery engine that is the envy of the globe. Yet it is not a household name. It should be.” He went on: “When you hear about patients surviving stage 4 cancer because of immunotherapy, that was based on N.I.H. research over many decades. When you hear about sickle-cell disease being cured because of CRISPR gene editing, that was built on many years of research supported by N.I.H.”

Francis Collins led the mapping of the human genome, and chose to do big scientific to benefit the public. He is a a former NIH Director.
He just resigned his position in government. His resignation letter:
www.nytimes.com/2025/03/01/u...

1 year ago 4193 1581 64 88
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NIH ban on renewing senior scientists adds to assaults on its in-house research Policy follows firings of tenure-track scientists and suspension of training programs

Friends, I am at a loss of words for how devastating it would be to lose the entire intramural #NIH program. Some of the biggest medical and scientific breakthroughs have come from scientists in the NIH Intramural program. #SaveTheNIH 🧬🧪 🖥️ 🧠

www.science.org/content/arti...

1 year ago 1097 331 30 9

H/t to co-authors @johannalsmith.bsky.social, @quennawong.bsky.social, Whitney Hornsby, @mconomos.bsky.social, @blueyedgenes.bsky.social, and the entire Data Sharing Working Group! @prsdiversity.bsky.social is an NHGRI and NCI funded Consortium 7/

1 year ago 1 1 0 0

Data sharing enthusiasts - check out our new @prsdiversity.bsky.social pre-print!

1 year ago 3 4 0 0
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VA Research Funding Slashed Though not as prominent as the NIH, VA researchers play a major role in advancing basic health science. Hundreds of projects have been cut.

NIH cuts are getting the press, but VA research is getting slashed too. What do we lose when VA research goes away? Here's some greatest hits: The nicotine patch, invention of the cardiac pacemaker, first successful liver transplant, development of the CAT/CT scan

prospect.org/health/2025-...

1 year ago 515 273 6 14
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ASHG is concerned about the cuts to NIH-funded research support, its impacts on biomedical research, and the effect on local, state, and national economies. We join our advocacy partners to ensure essential progress is not stalled.
Read our statement: www.ashg.org/publications... #ASHG

1 year ago 32 27 1 2
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Researchers look to genetics to better understand heart disease in South Asians People of South Asian descent are more likely to be affected by heart disease, but their risks often go unnoticed. Researchers are looking to genetics to learn more and prevent early deaths.

So fantastic that NPR featured the unexplained troublingly high rates of heart disease among S Asian individuals, and our research efforts with the OurHealth Study to address these issues! www.npr.org/2025/02/11/n... @broadinstitute.org @prsdiversity.bsky.social

1 year ago 26 13 1 0
Screenshot of website from January 19th, 2025 of meeting summary. Event details say "The National Human Genome Research Institute (NHGRI) will host a virtual workshop entitled “Future Directions in Genomics and Health Equity Research” on April 6-7. The goal of the workshop is to identify research gaps and opportunities that will help to decrease health disparities and improve health equity in genomics. The workshop will emphasize the scientific value of diversity and inclusion as well as identify and prioritize future research needs in genomics to advance health equity. It will also explore best practices for making genomic data, technology and genomically informed healthcare ethical, representative, accessible and beneficial to all."

Screenshot of website from January 19th, 2025 of meeting summary. Event details say "The National Human Genome Research Institute (NHGRI) will host a virtual workshop entitled “Future Directions in Genomics and Health Equity Research” on April 6-7. The goal of the workshop is to identify research gaps and opportunities that will help to decrease health disparities and improve health equity in genomics. The workshop will emphasize the scientific value of diversity and inclusion as well as identify and prioritize future research needs in genomics to advance health equity. It will also explore best practices for making genomic data, technology and genomically informed healthcare ethical, representative, accessible and beneficial to all."

Screenshot of the same URL today (February 23rd, 2025). It simply says "404 - Page Not Found" and "The link you followed or typed is either incomplete, outdated or we have made a mistake! Please search above or see these helpful links instead"

Screenshot of the same URL today (February 23rd, 2025). It simply says "404 - Page Not Found" and "The link you followed or typed is either incomplete, outdated or we have made a mistake! Please search above or see these helpful links instead"

In 2022, I participated in the important NHGRI Workshop "Future Directions in Genomics & Health Equity Research".

The program & accompanying materials were available online. They are now gone.

This makes me so sad, especially for our wonderful colleagues at NIH who care about this work deeply.

1 year ago 37 20 4 5