Brett Johnson
@brettrj.bsky.social
Truth seeking in the name of science
We can do better #genomics #globalhealth #precisionmedicine Human genomics technologies in clinical studies – the research landscape: report on the 1990-2024 period www.who.int/publications...
Human genomics technologies in clinical studies – the research landscape: report on the 1990-2024 period
This snapshot provides a global overview of clinical studies involving human genomic technologies that were registered between 1990 and 2024.
www.who.int
December 24, 2025 at 1:39 PM
We can do better #genomics #globalhealth #precisionmedicine Human genomics technologies in clinical studies – the research landscape: report on the 1990-2024 period www.who.int/publications...
Now we are talking: #raredisease model from a population perspective #precisionmedicine with Proteomic stability and localization (maybe still early but progress from that good stuff brought to pharma 😊 long ago) www.nature.com/articles/s41...
Proteome-wide model for human disease genetics - Nature Genetics
popEVE is a proteome-wide deep generative model to identify and predict pathogenicity of missense mutations causing genetic disorders.
www.nature.com
November 25, 2025 at 5:24 PM
Now we are talking: #raredisease model from a population perspective #precisionmedicine with Proteomic stability and localization (maybe still early but progress from that good stuff brought to pharma 😊 long ago) www.nature.com/articles/s41...
Conversational interoperability in agentic interactions, a maze-ing paradigm to benchmark: arxiv.org/abs/2511.02687
The Collaboration Gap
The trajectory of AI development suggests that we will increasingly rely on agent-based systems composed of independently developed agents with different information, privileges, and tools. The succes...
arxiv.org
November 6, 2025 at 1:17 PM
Conversational interoperability in agentic interactions, a maze-ing paradigm to benchmark: arxiv.org/abs/2511.02687
LLM ChatGPT-n models built on models? No shocker: Primary data of quality and review (#dataequity) needs to be used for insights www.nature.com/articles/s41...
AI models collapse when trained on recursively generated data - Nature
Analysis shows that indiscriminately training generative artificial intelligence on real and generated content, usually done by scraping data from the Internet, can lead to a collapse in th...
www.nature.com
November 5, 2025 at 3:22 PM
LLM ChatGPT-n models built on models? No shocker: Primary data of quality and review (#dataequity) needs to be used for insights www.nature.com/articles/s41...
Love the effort to integrate genetic data into Dx needs of the patient. Great for #raredisease but shouldn't this be knowledge generation be used for all conditions (since cost of a genome has been reduced) #precisionmedicine www.forbes.com/sites/jaimec...?
The ROI Of AI Medicine—Where Custom Cures Meet Smart Money
AI is powering a new era of “one-patient medicine,” cutting drug costs and creating personalized cures that could transform healthcare and finance.
www.forbes.com
October 26, 2025 at 1:13 PM
Love the effort to integrate genetic data into Dx needs of the patient. Great for #raredisease but shouldn't this be knowledge generation be used for all conditions (since cost of a genome has been reduced) #precisionmedicine www.forbes.com/sites/jaimec...?
MisDx in common diseases can be reduced with genomic testing #precisionmedicine (and find #raredisease) #NGS www.nejm.org/doi/full/10....
Common Diseases in Clinical Cohorts — Not Always What They Seem | NEJM
Misdiagnosis or underdiagnosis of rare diseases in patients with diagnoses of common
diseases can lead to delayed or inappropriate treatments, thereby complicating the
management of both rare and c...
www.nejm.org
October 23, 2025 at 12:59 PM
MisDx in common diseases can be reduced with genomic testing #precisionmedicine (and find #raredisease) #NGS www.nejm.org/doi/full/10....
#Cancer date, Preclinical and observational: mRNA #vaccines targeting SARS-CoV-2 also sensitize tumours to ICIs. www.nature.com/articles/s41...
SARS-CoV-2 mRNA vaccines sensitize tumours to immune checkpoint blockade - Nature
mRNA vaccines targeting SARS-CoV-2 also sensitize tumours to immune checkpoint inhibitors.
www.nature.com
October 22, 2025 at 5:03 PM
#Cancer date, Preclinical and observational: mRNA #vaccines targeting SARS-CoV-2 also sensitize tumours to ICIs. www.nature.com/articles/s41...
#Bitcoin use: Nice Fed article referenced in P. krugman today re:crypto payments 1) a decrease in use by consumers in the last 2 years and 2) a younger group with fewer assets use it. www.kansascityfed.org/documents/11...
www.kansascityfed.org
October 14, 2025 at 12:59 PM
#Bitcoin use: Nice Fed article referenced in P. krugman today re:crypto payments 1) a decrease in use by consumers in the last 2 years and 2) a younger group with fewer assets use it. www.kansascityfed.org/documents/11...
Feasibility/Outcomes (aka: ROI for the finance types)of WGS in newborns www.nature.com/articles/s41...
Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study - Nature Medicine
The BabyScreen+ study offered genomic screening to 1,000 newborns in Australia, and showed that the approach is feasible and positively received by families, leading to molecular diagnoses in 1.6% of babies.
www.nature.com
October 10, 2025 at 4:58 PM
Feasibility/Outcomes (aka: ROI for the finance types)of WGS in newborns www.nature.com/articles/s41...
Advances in Mitochondrial treatment aka #raredisease www.science.org/content/arti...
First approved drug for mitochondrial disease could pave way for more treatments
Researchers are testing multiple treatments for the rare genetic conditions
www.science.org
October 10, 2025 at 1:11 PM
Advances in Mitochondrial treatment aka #raredisease www.science.org/content/arti...
Q100 delivers new benchmark for human genome reference: www.biorxiv.org/content/10.1...
A complete diploid human genome benchmark for personalized genomics
Human genome resequencing typically involves mapping reads to a reference genome to call variants; however, this approach suffers from both technical and reference biases, leaving many duplicated and ...
www.biorxiv.org
September 23, 2025 at 12:39 PM
Q100 delivers new benchmark for human genome reference: www.biorxiv.org/content/10.1...
Propensity scores: a start in integrating RWD (expanded access) covariants confoundings w RCT "gold standards"? onlinelibrary.wiley.com/doi/10.1002/...
Augmenting Treatment Arms With External Data Through Propensity‐Score Weighted Power Priors: An Application in Expanded Access
The incorporation of real-world data to supplement the analysis of trials and improve decision-making has spurred the development of statistical techniques to account for introduced confounding. Rece...
onlinelibrary.wiley.com
September 19, 2025 at 1:16 PM
Propensity scores: a start in integrating RWD (expanded access) covariants confoundings w RCT "gold standards"? onlinelibrary.wiley.com/doi/10.1002/...
Immune Checkpoint inhibitors: Stratifying real world outcomes w multiomics jitc.bmj.com/content/jitc...
jitc.bmj.com
September 10, 2025 at 5:04 PM
Immune Checkpoint inhibitors: Stratifying real world outcomes w multiomics jitc.bmj.com/content/jitc...
ISM ENPP1 upstream STING small molecule via AI. (chemistry42) www.nature.com/articles/s41...
Oral ENPP1 inhibitor designed using generative AI as next generation STING modulator for solid tumors - Nature Communications
While the STING-type-I interferon pathway plays a key role in anti-tumour immunity, current direct STING agonists have limited therapeutic benefit. Here, the authors identify ENPP1 as a safer and more...
www.nature.com
September 4, 2025 at 12:11 PM
ISM ENPP1 upstream STING small molecule via AI. (chemistry42) www.nature.com/articles/s41...
Nice to see multi-ancestry GWAS coming into focus as our national genomics datasets increase..thank you all those that contribute! www.sciencedirect.com/science/arti...
Evaluating multi-ancestry genome-wide association methods: Statistical power, population structure, and practical implications
The increasing availability of diverse biobanks has enabled multi-ancestry genome-wide association studies (GWASs) to enhance the discovery of genetic…
www.sciencedirect.com
September 4, 2025 at 1:44 AM
Nice to see multi-ancestry GWAS coming into focus as our national genomics datasets increase..thank you all those that contribute! www.sciencedirect.com/science/arti...
Patient-Centric Cognitive outcome measures playbook (firewall) link.springer.com/article/10.1...
Cognitive Interviews: Recommendations for Best Practices in Clinical Outcome Assessment (COA) Measure Development and Validation - The Patient - Patient-Centered Outcomes Research
Cognitive interviewing is a technique that can be used to improve and refine questionnaire items. Cognitive interviewing is now a commonly used method to improve the reliability and validity of clinic...
link.springer.com
September 3, 2025 at 3:44 PM
Patient-Centric Cognitive outcome measures playbook (firewall) link.springer.com/article/10.1...
Review: Generative AI in Federal Agencies: files.gao.gov/reports/GAO-...
GAO-25-107653, ARTIFICIAL INTELLIGENCE: Generative AI Use and Management
at Federal Agencies
files.gao.gov
August 18, 2025 at 7:09 PM
Review: Generative AI in Federal Agencies: files.gao.gov/reports/GAO-...
Evolution of Universal Health AI V. Universal Medical AI ai.nejm.org/doi/full/10....
Evolution of Future Medical AI Models — From Task-Specific, Disease-Centric to Universal Health
Medical artificial intelligence (MAI) has evolved from traditional machine learning
to deep learning and from supervised methodologies to unsupervised learning paradigms.
Recently, the focus has sh...
ai.nejm.org
August 16, 2025 at 12:57 PM
Evolution of Universal Health AI V. Universal Medical AI ai.nejm.org/doi/full/10....
presymptomstic Dx (genetic screening) to treat pediatric neuromuscular disease: Infants up to 6 weeks of age with genetically diagnosed SMA who were treated before the development of clinical symptoms appeared to have better functional and survival outcomes www.nejm.org/doi/full/10....
Risdiplam in Presymptomatic Spinal Muscular Atrophy | NEJM
Risdiplam, an oral pre–messenger RNA splicing modifier, is an efficacious treatment for persons with symptomatic spinal muscular atrophy (SMA). The safety and efficacy of risdiplam in presymptomati...
www.nejm.org
August 15, 2025 at 2:59 PM
presymptomstic Dx (genetic screening) to treat pediatric neuromuscular disease: Infants up to 6 weeks of age with genetically diagnosed SMA who were treated before the development of clinical symptoms appeared to have better functional and survival outcomes www.nejm.org/doi/full/10....
CHAT-NT: AI LLM conversational agent (no coding). It speaks -omic www.nature.com/articles/s42...
A multimodal conversational agent for DNA, RNA and protein tasks - Nature Machine Intelligence
De Almeida, Richard and colleagues leverage transfer learning to create ChatNT, a multimodal conversational agent for DNA, RNA and protein sequences that can be instructed in natural language.
www.nature.com
July 10, 2025 at 4:39 PM
CHAT-NT: AI LLM conversational agent (no coding). It speaks -omic www.nature.com/articles/s42...
Unreleased Education $ impact: Axios Boston reported on this (thanxs Avery Lotz and Steph Solis) this morning learningpolicyinstitute.org/blog/states-...
States Face Uncertainty as an Estimated $6.2 Billion in K–12 Funding Remains Unreleased: Here’s the Fiscal Impact by State
States face uncertainty as $4.8 billion in K–12 federal funding remains unreleased. If the U.S. Department of Education doesn’t distribute these funds by July 1, state educational agencies will need p...
learningpolicyinstitute.org
July 7, 2025 at 1:12 PM
Unreleased Education $ impact: Axios Boston reported on this (thanxs Avery Lotz and Steph Solis) this morning learningpolicyinstitute.org/blog/states-...
MicroRNA in predictive risk for T1D www.nature.com/articles/s41...
A microRNA-based dynamic risk score for type 1 diabetes - Nature Medicine
A 50 microRNA-based dynamic risk score for stratifying individuals with and without type 1 diabetes was developed using samples obtained from multicenter and multiethnic cohorts.
www.nature.com
June 30, 2025 at 4:47 PM
MicroRNA in predictive risk for T1D www.nature.com/articles/s41...
Genomic models: Evo2 arcinstitute.org/manuscripts/...
Manuscript | Arc Institute
Arc Institute is a independent nonprofit research organization headquartered in Palo Alto, California.
arcinstitute.org
June 27, 2025 at 6:04 PM
Genomic models: Evo2 arcinstitute.org/manuscripts/...
GSK innovation, WHO recommended, GAVI supported, Bharat execution. Malaria (RTS,S) Vaccine price reduction www.gsk.com/en-gb/media/...
Price of world’s first malaria vaccine (RTS,S) for children in endemic countries to be reduced by more than half, to less than $5 | GSK
Price reduction is commitment by Bharat Biotech made possible through partnership with GSK.
www.gsk.com
June 27, 2025 at 2:42 PM
GSK innovation, WHO recommended, GAVI supported, Bharat execution. Malaria (RTS,S) Vaccine price reduction www.gsk.com/en-gb/media/...
Global sharing of genetic data. www.nature.com/articles/s41...
A map of blood regulatory variation in South Africans enables GWAS interpretation - Nature Genetics
This study maps regulatory variation in blood using whole-genome and transcriptome data from 614 South Africans, providing a resource to aid the interpretation of genome-wide association studies in Af...
www.nature.com
June 27, 2025 at 2:09 PM
Global sharing of genetic data. www.nature.com/articles/s41...