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Articles by Daniel Rader
Generalizable CT vision-language modeling for population health and disease risk
Abstract Vision-language foundation models (VLMs) for computed tomography (CT) are emerging tools that learn generalizable representations from large-scale clinical imaging data. While these models can predict task-specific labels, the extent to which their representations capture the clinical, physiological, and longitudinal variation of real-world patient populations remains unclear.
Cast of A Chorus Line
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The landscape of plasma proteomic links to human organ imaging
Abstract Plasma protein levels provide important insights into human disease, yet a comprehensive assessment of plasma proteomics across organs is lacking. Using large-scale multimodal data from the UK Biobank, we integrate plasma proteomics with organ imaging to map their phenotypic and genetic links, analyzing 2923 proteins and 1051 imaging traits across multiple organs.
Two women in a play
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Integrative analyses elucidate transcriptional regulatory functions of risk alleles for metabolic liver disease
Abstract Genome-wide association studies have identified >100 loci associated with metabolic dysfunction-associated steatotic liver disease (MASLD), yet the mechanisms by which noncoding variants alter disease risk remain unclear. Here we map chromatin accessibility in human MASLD liver nuclei, revealing enrichment of risk variants within cell-type-specific regulatory elements bound by lineage-determining transcription factors.
Exome-wide association study of blood lipids in 1,158,017 individuals from diverse populations
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Abstract Rare coding alleles have crucial roles in the molecular diagnosis of genetic diseases. However, the systematic identification of these alleles has been challenging due to their scarcity in the general population. Here we discovered and characterized rare coding alleles contributing to genetic dyslipidemia, a principal risk for coronary artery disease (CAD), among 1,158,017 multi-ancestral individuals.
By Satoshi Koyama, Zhi Yu, Seung Hoan Choi, Sean J. Jurgens, Margaret Sunitha Selvaraj, Derek Klarin, Jennifer Huffman Verified, Shoa L. Clarke, Selena Zhang, Michael N. Trinh, Akshaya Ravi, Jacqueline S. Dron, Catherine Spinks, Ida L. Surakka, Aarushi Bhatnagar, Kim Lannery, Whitney E. Hornsby, Scott M. Damrauer, Kyong-Mi Chang, Julie Lynch, Themistocles L. Assimes, Philip S. Tsao, Daniel Rader, Kelly Kasulis Cho, Gina M. Peloso, Patrick T. Ellinor, Yan Sun, Peter Wilson, Pradeep Natarajan
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Nature
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Base editing and silencing of PCSK9 shows clinical promise in humans
Base editing therapies to silence PCSK9 have entered clinical trials, and early results show promise for a durable ‘one-and-done’ therapy to lower plasma LDL-cholesterol levels.
Proteomic risk score for early prediction of kidney disease progression in individuals with APOL1 high-risk genotypes
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Abstract Individuals of African ancestry carrying APOL1 (apolipoprotein L1) high-risk genotypes face a markedly increased risk of kidney failure, yet tools to identify those individuals likely to progress to chronic kidney disease are lacking. Here we profiled plasma proteomes of 851 Penn Medicine BioBank participants of African ancestry (285 males and 566 females) with APOL1 high-risk genotypes and preserved estimated glomerular filtration rate (eGFR) (≥60 ml min−1 1.73 m−2).
By Chenyu Li, Shola Richards, Ghazal Quinn, Amin Abedini, Minyan Zhu, Tanya verma, Samer Mohandes, Rebecca Pitts, Xiazi Qiu, Taehwan Shin, Joseph Loureiro, Nancy Finkel, Aditya Surapaneni, Josef Coresh, Morgan E. Grams, Hongzhe Li, Anurag Verma, Marylyn D. Ritchie, Daniel Rader, Penn Medicine Biobank, William Dietrich, Lori L. Jennings, Katalin Susztak, Vesna Barros, Anil Karihaloo
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Nature
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Expanded chromatin accessibility mapping explains genetic variation associated with complex traits in liver
Keywords quantitative trait locus mapping chromatin accessibility liver cholesterol genetic architecture colocalization Get full text access Log in, subscribe or purchase for full access. References 1. Stranger, B.E. ∙ Stahl, E.A. ∙ Raj, T. Progress and promise of genome-wide association studies for human complex trait genetics Genetics. 2011; 187:367-383 2. Buniello, A. ∙ Macarthur, J.A.L. ∙ Cerezo, M. ...
Author Correction: Common-variant and rare-variant genetic architecture of heart failure across the allele-frequency spectrum - Nature Genetics
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Correction to: Nature Genetics https://doi.org/10.1038/s41588-025-02140-2, published online 7 April 2025. In the version of this article initially published, the surname of Ozan Dikilitas was misspelled (Dilitikas) and is now amended in the HTML and PDF versions of the article. About this article Lee, D.S.M., Cardone, K.M., Zhang, D.Y. et al. Author Correction: Common-variant and rare-variant genetic architecture of heart failure across the allele-frequency spectrum. Nat Genet (2025).
By David Zhang, Noah Tsao, Sarah A Abramowitz, Mitchell Conery, Krishna G. Aragam, Ozan Dikilitas, Lily Hoffman-Andrews, Atlas Khan, Iftikhar J. Kullo, Megan J. Puckelwartz, Penn Medicine Biobank, Zoltan Arany, Eric D. Carruth, Ron Do, Elizabeth M. McNally, Girish N. Nadkarni, Daniel Rader, Marylyn D. Ritchie, Yan Sun, Benjamin F Voight, Michael Levin
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Nature
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An African ancestry-specific nonsense variant in CD36 is associated with a higher risk of dilated cardiomyopathy - Nature Genetics
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Abstract The high burden of dilated cardiomyopathy (DCM) in individuals of African descent remains incompletely explained. Here, to explore a genetic basis, we conducted a genome-wide association study in 1,802 DCM cases and 93,804 controls of African genetic ancestry (AFR). A nonsense variant (rs3211938:G) in CD36 was associated with increased risk of DCM.
By Jennifer Huffman Verified, Xiuqing Guo, Michael Levin, Yuan-I Min, James P Pirruccello, Shefali Setia Verma, Anurag Verma, John Carr, Daniel Rader, Amil M. Shah, Stephen S. Rich, Christopher O’Donnell Verified, Lawrence Phillips, Kathryn L Lunetta, Jerome I. Rotter, Scott M. Damrauer, Yan Sun, Patrick T. Ellinor, Jacob Joseph
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Nature
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Should Familial Hypercholesterolemia Be Included in Newborn Screening?
Newborn screening has revolutionized the early diagnosis of genetic conditions and enabled early therapeutic interventions, which have dramatically improved the outcomes for numerous disorders.1 The advent of tandem mass spectrometry in the 1990s opened the possibility of cost-effective multiplex screening for a multitude of disorders on the same sample.
Targeting triglyceride-rich lipoproteins in cardiovascular disease - Nature Medicine
Positive results from a first-in-human clinical trial validate the ANGPTL3–ANGPTL8 complex as a new therapeutic target for reducing triglycerides and, potentially, cardiovascular disease risk. Enjoying our latest content? Login or create an account to continue Access the most recent journalism from Nature's award-winning team Explore the latest features & opinion covering groundbreaking research or References Rader, D. J. N. Engl. J. Med. 392, 1740–1742 (2025). CAS PubMed Google Scholar Ginsberg, H. N.
Common-variant and rare-variant genetic architecture of heart failure across the allele-frequency spectrum - Nature Genetics
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Abstract Heart failure is a complex trait, influenced by environmental and genetic factors, affecting over 30 million individuals worldwide. Here we report common-variant and rare-variant association studies of all-cause heart failure and examine how different classes of genetic variation impact its heritability.
By David Zhang, Noah Tsao, Sarah A Abramowitz, Mitchell Conery, Krishna G. Aragam, Lily Hoffman-Andrews, Atlas Khan, Iftikhar J. Kullo, Megan J. Puckelwartz, Penn Medicine Biobank, Zoltan Arany, Eric D. Carruth, Ron Do, Elizabeth M. McNally, Girish N. Nadkarni, Daniel Rader, Marylyn D. Ritchie, Yan Sun, Benjamin F Voight, Michael Levin, Ozan Dilitikas
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Nature
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Human genetics identify convergent signals in mitochondrial LACTB-mediated lipid metabolism in cardiovascular-kidney-metabolic syndrome
Plasmids, short interfering RNA, and transfection The LACTB and LACTB-Mut plasmids in FUW-LPT2 vector were kindly provided by Professor Zuzana Keckesova. The cDNA of LACTB and LACTB-Mut were subcloned to pcDNA5/FRT/TO vector. The LACTB-APEX2-V5 plasmid was generated by AZENTA (NJ, USA). The PLA2G6 plasmid was purchased from SinoBiological and subcloned to pcDNA5/FRT/TO vector. PLA2G6 (aa514-806) was generate by PCR and then subcloned into pcDNA5/FRT/TO vector.
‘Our Town’ review: Bland Broadway revival starring Jim Parsons and Katie Holmes doesn’t hit home
The new Broadway revival of “Our Town,” which opened Thursday night at the Ethel Barrymore Theatre, puts all its chips on “Our.” One hour and 45 minutes, with no intermission. At the Ethel Barrymore Theatre, 243 W 47th Street. Its cast is more diverse than any production of Thornton Wilder’s classic play you’re likely to have seen, and the actors begin by singing a variety of religious songs — Christian, Jewish, Islamic.
Genetic risk factors for COVID-19 and influenza are largely distinct - Nature Genetics
Abstract Coronavirus disease 2019 (COVID-19) and influenza are respiratory illnesses caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and influenza viruses, respectively. Both diseases share symptoms and clinical risk factors1, but the extent to which these conditions have a common genetic etiology is unknown.
6. The company of HAIR at Signature Theatre. Photo by Daniel Radar.jpg
Fairfax’s Jamie Goodson is part of the stellar production, which runs through July 7
Kagami Ogata syndrome: a small deletion refines critical region for imprinting - npj Genomic Medicine
Abstract Kagami–Ogata syndrome is a rare imprinting disorder and its phenotypic overlap with multiple different etiologies hampers diagnosis. Genetic etiologies include paternal uniparental isodisomy (upd(14)pat), maternal allele deletions of differentially methylated regions (DMR) in 14q32.2 or pure primary epimutations.
ONSTAGE
ONSTAGE: Bobby Smith (center) stars as the loving father Tateh, with Emerson Holt Lacayo as his daughter, in the musical “Ragtime” at Signature Theatre in Arlington. This moving musical, about three American families at the turn of the 20th century, runs through Jan. 7. Directed by Matthew Gardiner. SigTheatre.org.
Regional theater rebound
Skip to main content You have permission to edit this image. LOCAL CANCELLATIONS & DELAYS Previous TEMPE, Arizona — President Joe Biden issued one of his most dire warnings yet th… Next Up ALPINE, Ore. — The U.S. West Coast produces over 90% of Amer… User information Username (Optional) This is the name that will be displayed next to your photo for comments, blog posts, and more. Choose wisely! * Email Address Your email address will be used to confirm your account.
BRAIN MUSICAL REVIEW 3
A photo provided by Daniel Rader shows, Adam Chanler-Berat, Salome B. Smith and other members of the cast of William Finn’s “A New Brain.” Barrington Stage Company’s revival of the 1998 musical brings vocal luster and newfound relevance to the story of a songwriter’s near-death experience, writes the New York Times theater critic Jesse Green. (Daniel Rader via The New York Times) -- NO SALES; FOR EDITORIAL USE ONLY WITH NYT STORY SLUGGED BRAIN MUSICAL REVIEW BY JESSE GREEN FOR AUG. 25, 2023.
Editorial: MTTP, hepatic steatosis, and plasma lipids-still more questions than answers. Authors' reply
LINKED CONTENT This article is linked to Schneider et al papers.
Lipoprotein(a) and Oxidized Phospholipids
close Please confirm that you would like to log out of Medscape. If you log out, you will be required to enter your username and password the next time you visit. Log out Cancel It is well-established that lipoprotein(a) (Lp[a]) is a genetically determined causal risk factor for a range of cardiovascular diseases.
Genome-wide association study of thoracic aortic aneurysm and dissection in the Million Veteran Program - Nature Genetics
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Abstract The current understanding of the genetic determinants of thoracic aortic aneurysms and dissections (TAAD) has largely been informed through studies of rare, Mendelian forms of disease.
By Derek Klarin, Anoop K. Sendamarai, Sarah Graham, Michael Levin, James P Pirruccello, Yanming Li, Minxian Wang, Krishna G. Aragam, Kaavya Paruchuri, Verena Zuber, Noah Tsao, Shefali S. Verma, Daniel Rader, Ron Do, Girish N. Nadkarni, Marylyn D. Ritchie, Stephen Burgess, Dong-chuan Guo, Patrick T. Ellinor, Scott Lemaire, Dianna Milewicz, Cristen J. Willer, Pradeep Natarajan, Philip S. Tsao, Saiju Pyarajan
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Nature
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Screening for common genetic conditions may be cost-effective
Source/Disclosures Disclosures: Guzauskas reports the study was funded by a grant from the National Human Genome Research Institute. We were unable to process your request. Please try again later. If you continue to have this issue please contact customerservice@slackinc.com.
Screening for common genetic conditions may be cost-effective
Perspective Back to Top Daniel J. Rader, MD The application of genomics to population health is of substantial interest and has the potential to reduce morbidity and mortality associated with genetic conditions of sufficient prevalence.
Gala 2023 - New 42
Gala Leadership Angels Emily and Len Blavatnik Fiona and Eric Rudin Diane and Marc Spilker Hosts Chairs Shahara Ahmad-Llewellyn Kitty Patterson Kempner and Tom Kempner May and Samuel Rudin Family Foundation Sarah Long and David Solomon Gerri and Andy Sommers Anonymous Vice Chairs Caryn Seidman-Becker and Marc Becker Leigh Bishop Tiffany and Sean Gardner Amy Jacobs, RUBENSTEIN Dr. Edward Kwak and Ms. Ji Park Kwak Kate and Brad Peck Suzanne Peck and Brian Friedman Henry Tisch Committee Yemi...
Q&A: New investments will support implementation of genomic information in practice
Source/Disclosures Source: Healio Interview Disclosures: Valverde and Rader report no relevant financial disclosures We were unable to process your request. Please try again later. If you continue to have this issue please contact customerservice@slackinc.com. Penn Medicine announced that it has received a $9.7 million grant that will be used to fund continuing education and training for genetic counselors.
Genomics and phenomics of body mass index reveals a complex disease network - Nature Communications
Study participants The design of the MVP has been previously described33. Briefly, individuals aged 19 to 104 years with the mean age of 62 years have been recruited from over 60 Veterans Health Administration medical centers nationwide since 2011.
Whole genome sequence analysis of blood lipid levels in >66,000 individuals - Nature Communications
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Abstract Blood lipids are heritable modifiable causal factors for coronary artery disease. Despite well-described monogenic and polygenic bases of dyslipidemia, limitations remain in discovery of lipid-associated alleles using whole genome sequencing (WGS), partly due to limited sample sizes, ancestral diversity, and interpretation of clinical significance.
By Margaret Sunitha Selvaraj, Xihao Li, Zilin Li, Akhil Pampana, David Zhang, Joseph Park, Joshua C. Bis, Jennifer Brody, Brian E. Cade, Lee-Ming Chuang, Ren-Hua Chung, Joanne Curran, Barry I. Freedman, Mariaelisa Graff, Xiuqing Guo, Nancy L. Heard-Costa, Chii-Min Hwu, Steven A. Lubitz, May E. Montasser, Alanna C. Morrison, Nicholette D. Palmer, Patricia A. Peyser, Xiao Sun, Zhe Wang, Yuxuan Wang, Lisa R. Yanek, Wei Zhao, Donna Arnett, John Blangero, L. Cupples, Susan K. Dutcher, Patrick T. Ellinor, Myriam Fornage, Charles Kooperberg, Rasika A. Mathias, Stephen T. McGarvey, Bruce M. Psaty, Ramachandran S. Vasan, Stephen S. Rich, Cristen J. Willer, Daniel Rader, Xihong Lin, NHLBI Trans-Omics, Gina M. Peloso, Brian G. Kral, Martin Lisa, Preuss Michael, Soren Germer, Jennifer Smith
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Nature
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Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes - Nature Communications
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Abstract Body fat distribution is a major, heritable risk factor for cardiometabolic disease, independent of overall adiposity. Using exome-sequencing in 618,375 individuals (including 160,058 non-Europeans) from the UK, Sweden and Mexico, we identify 16 genes associated with fat distribution at exome-wide significance.
By Olukayode Sosina, Karl Landheer, Senem Aykul, Mary E. Haas, Marju Orho-Melander, Jesus Alegre-Díaz, Jonathan Emberson, Daniel Rader, Brian Zambrowicz, Andrew Murphy, Jeffrey Reid, Alan R. Shuldiner, Goncalo Abecasis, Aris Economides, Tooraj Mirshahi, Jonathan Marchini, Roberto Tapia-Conyer, Adam E. Locke, Aris Baras, Luca A. Lotta, DiscovEhr Collaboration, Jaime Berumen
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Nature
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Large-scale genome-wide association study of coronary artery disease in genetically diverse populations - Nature Medicine
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Abstract We report a genome-wide association study (GWAS) of coronary artery disease (CAD) incorporating nearly a quarter of a million cases, in which existing studies are integrated with data from cohorts of white, Black and Hispanic individuals from the Million Veteran Program.
By Catherine Tcheandjieu, Xiang Zhu, Shoa L. Clarke, Valerio Napolioni, Marijana Vujkovic, Derek Klarin, Michael Levin, Nasa Sinnott-Armstrong, Genevieve L Wojcik, Alexander Bick, Jie Huang, Yuk-Lam Ho, Steven Buyske, Charles Kooperberg, Ron Do, Kumardeep Chaudhary, Kari E. North, Christy L. Avery, Joshua C. Bis, Ozan Dikilitas, Iftikhar J. Kullo, Ian B. Stanaway, Bahram Namjou, Kazuyoshi Ishigaki, Marylyn D. Ritchie, Rachel L. Kember, Aris Baras, Donald Miller, Peter D. Reaven, Pradeep Natarajan, Jennifer Huffman Verified, Benjamin F Voight, Daniel Rader, Kyong-Mi Chang, Julie Lynch, Scott M. Damrauer, Hua Tang, Yan Sun, Philip S. Tsao, Themistocles L. Assimes, Austin T. Hilliard, Bryan R. Gorman, Shefali S. Verma, Biobank Japan
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Nature
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Genetic regulation of OAS1 nonsense-mediated decay underlies association with COVID-19 hospitalization in patients of European and African ancestries - Nature Genetics
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Abstract The chr12q24.13 locus encoding OAS1–OAS3 antiviral proteins has been associated with coronavirus disease 2019 (COVID-19) susceptibility. Here, we report genetic, functional and clinical insights into this locus in relation to COVID-19 severity.
By Oscar Florez-Vargas, Olusegun O Onabajo, Muhammad A. Zahoor, Timothy J. Ring, Evangelos Andreakos, Greg Barsh, Leslie G. Biesecker, Mary Carrington, Euijin Chang, Pyoeng Gyun Choe, Leandro M. Colli, Clifton L. Dalgard, Heather S. Feigelson, Benedito A. Fonseca, Adam J. Gehring, Michelle Ho, Hogune Im, Steven M. Lipkin, Guilherme L. Paschoalini, Jennifer Pacheco, Daniel Rader, Marylyn D. Ritchie, M. Elizabeth Ross, Sharon A. Savage, Eleni Siouti, Alicia Smith, Vasiliki Triantafyllia, Duane R. Wesemann, Meredith Yeager, Stephen J. Chanock
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Nature
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A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation | Nature Genetics
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Abstract Nonalcoholic fatty liver disease (NAFLD) is a growing cause of chronic liver disease. Using a proxy NAFLD definition of chronic elevation of alanine aminotransferase (cALT) levels without other liver diseases, we performed a multiancestry genome-wide association study (GWAS) in the Million Veteran Program (MVP) including 90,408 cALT cases and 128,187 controls.
By Marijana Vujkovic, Kim Lorenz, Xiuqing Guo, Heather J. Cordell, Joseph Park, Kyung Min Lee, David Kaplan, Xiang Zhu, Catherine Tcheandjieu, Rachel L. Kember, Henry R Kranzler, Ayush Giri, Derek Klarin, Yan Sun, Jie Huang, Jennifer Huffman Verified, Kate Townsend Creasy, Nicholas Hand, Ching-Ti Liu, Matthew J. Budoff, Henry Lin, Silvia Vilarinho Verified, Adam E. Locke, Aris Baras, Brent A Neuschwander-Tetri, Kathleen Ryan, Dipender Gill, Elisabetta Manduchi, Donald Miller, Peter D. Reaven, Lawrence Phillips, Scott Duvall, Themistocles L. Assimes, Todd L. Edwards, Scott M. Damrauer, Amit V. Khera, Philip S. Tsao, Danish Saleheen, Julie Lynch, Daniel Rader, Kyong-Mi Chang, Walter R. Witschey, Geisinger-regeneron DiscovEhr Collaboration
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Nature
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High heritability of ascending aortic diameter and trans-ancestry prediction of thoracic aortic disease - Nature Genetics
Abstract Enlargement of the aorta is an important risk factor for aortic aneurysm and dissection, a leading cause of morbidity in the developed world. Here we performed automated extraction of ascending aortic diameter from cardiac magnetic resonance images of 36,021 individuals from the UK Biobank, followed by genome-wide association.
Whole-genome sequencing reveals host factors underlying critical COVID-19 - Nature
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Abstract Critical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic variation influences the development of illness requiring critical care1 or hospitalization2,3,4 after infection with SARS-CoV-2. The GenOMICC (Genetics of Mortality in Critical Care) study enables the comparison of genomes from individuals who are critically ill with those of population controls to find underlying disease mechanisms.
By Athanasios Kousathanas, Erola Pairo-Castineira, Konrad Rawlik, Susan Walker, Tomas Malinauskas, Yang Wu, Xia Shen, Katherine Elliott, Bo Wang, Lucija Klaric, Nick Parkinson, Alistair Nichol, Malcolm G Semple, Julian Knight, Christine Patch, Aris Baras, Goncalo Abecasis, Daniel Rader, Marylyn D. Ritchie, Manu Shankar-Hari, Charlotte Summers, Danny F McAuley, Hugh Montgomery, Paul Elliott, Albert Tenesa, Lee Murphy, Kathy Rowan, Chris P. Ponting, Veronique Vitart, James WIlson, James Wilson, Jian Yang, Andrew Bretherick, Loukas Moutsianas, Andy Law, J. Kenneth Baillie, Shahla Salehi, Greg Elgar, Charles Hinds, GenOmicc investigators, Sara Clohisey Hendry
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Nature
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FDA approves evinacumab for homozygous FH
February 11, 2021 1 min read Save Source/Disclosures Published by: Disclosures: Rader reports he was an investigator for a trial sponsored by Regeneron and is an unpaid consultant to the FH Foundation. Wilemon is an employee of the FH Foundation. ADD TOPIC TO EMAIL ALERTS Receive an email when new articles are posted on Please provide your email address to receive an email when new articles are posted on . We were unable to process your request. Please try again later.
Teaching Old Drugs New Tricks: Statins for COVID-19?
The COVID-19 pandemic has driven unprecedented efforts to identify existing treatments that can be quickly and effectively repurposed to reduce morbidity and mortality. In this issue of Cell Metabolism, report an association between statin use and improved outcomes in a large observational study of hospitalized COVID-19 patients. Given the widespread availability, low cost, and safety of statins, this promising result should be further investigated in randomized controlled trials. Main Text ).
Gain-of-Function Variants in Lipid Genes Enhance Biological Insight and Point Toward Therapeutic Opportunities
Originally publishedhttps://doi.org/10.1161/CIRCULATIONAHA.122.061233Circulation. 2022;146:740–742 Footnotes References 1. Tsao CW, Aday AW, Almarzooq ZI, Alonso A, Beaton AZ, Bittencourt MS, Boehme AK, Buxton AE, Carson AP, Commodore-Mensah Y, . Heart disease and stroke statistics-2022 update: a report from the American Heart Association.Circulation. 2022; 145:e153–e639. doi: 10.1161/CIR.0000000000001052LinkGoogle Scholar 2. Upadhyay RK .
COVID-19 outcomes and the human genome
BACKGROUND In the COVID-19 pandemic, the opportunity to link host genomic factors to the highly variable clinical manifestations of SARS-CoV-2 infection has been widely recognized.1,2 The overt motivation for this research is the clinical implementation of any new insights to improve clinical management and foster better patient outcomes.
FRACAS: The Secret to Better Asset Reliability
At its core, reliability engineering is about predicting and preventing failure. By listing out all the ways a system can fail, it becomes possible to work out all the ways failure can be detected, delayed, or stopped dead before it can even truly begin. Failure reporting, analysis and corrective action system (FRACAS) is an organized method of sorting through the possible means of asset failure and working back to all the possible root causes.
Systematically Sifting Big Data to Identify Novel Causal Genes for Human Traits
Widespread technological advances have propelled human genetics into a “big data” era, in which genome-wide data from extremely large cohorts can be integrated with other “-omics” datasets from humans and model systems. Li et al. (2020) Li Z. Votava J.A. Zajac G.J.M. Nguyen J.N. Leyva Jaimes F.B. Ly S.M. Brinkman J.A. De Giorgi M. Kaul S. Green C.L. et al. Integrating mouse and human genetic data to move beyond GWAS and identify causal genes in cholesterol metabolism. Cell Metab.
Antisense oligonucleotides for atherosclerotic disease
Novel RNA-targeting antisense therapy is shown to reduce lipoprotein(a) levels in 286 patients with existing atherosclerotic disease by upwards of 80% in a phase 2 clinical trial. Fig. 1: An oligonucleotide for atherosclerosis. References 1. Tsimikas, S. et al. J. Am. Coll. Cardiol. 71, 177–192 (2018). 2. Tsimikas, S. et al. N. Engl. J. Med. 382, 244–255 (2020). 3. Paré, G. et al. Circulation 139, 1472–1482 (2019). 4. Clarke, R. et al. N. Engl. J. Med. 361, 2518–2528 (2009). 5. Burgess, S. et al. JAMA Cardiol. 3, 619–627 (2018).
Polygenic Risk Scores and Coronary Artery Disease
Articles, see p 616 and p 624 Polygenic risk scores represent a method of aggregating an individual’s genetic information, weighted by associations between genetic variants and disease outcomes identified from genome-wide association studies (GWAS), into simplified scores that can be used for risk prediction. The first GWAS of coronary artery disease (CAD) was published in 2007, identifying a locus at 9p21 conferring a 25% to 30% increase in the risk of CAD per risk allele.
Genetic variant linked to HF in people of African American or Latino ancestry
The TTR V122I genetic variant was significantly linked to HF among patients of African or Latino ancestry, according to a study published in JAMA. “This study is the first real-world ‘genome-first’ study of TTR V122I linked to health records, and so is not biased by who has been referred for TTR testing,” Daniel J.
Association of the V122I Hereditary Transthyretin Amyloidosis Genetic Variant With Heart Failure Among Individuals of African or Hispanic/Latino Ancestry | Cardiology | JAMA | JAMA Network
Key Points Question Is there an association between the V122I genetic variant of hereditary transthyretin amyloidosis with heart failure among individuals of African or Hispanic/Latino ancestry?
Novel RNA interference agents improve lipid profiles in healthy volunteers
PHILADELPHIA — Two novel RNA interference agents, one targeting apolipoprotein C-III and one targeting angiopoietin-like protein 3, improved various lipid parameters in early studies with healthy volunteers, according to new data presented at the American Heart Association Scientific Sessions.
High-risk patients unable to take PCSK9 inhibitors have poor outcomes
Among high-risk patients prescribed PCSK9 inhibitors, those whose prescriptions were rejected by payers or who abandoned their prescriptions had worse outcomes compared with those whose prescriptions were paid for and picked up, researchers reported.
Fall Preview 2019: 7 Broadway Shows That Already Have Us Shook
It’s been a summer of love and beauty on Broadway thanks to the hit stage adaptation of Moulin Rouge!, but this fall is shaping up to be just as spectacular. Mark your calendars for these seven buzzworthy shows hitting the Great White Way. Derren Brown: Secret Two-time Olivier Award winner Derren Brown, a master mentalist from London, makes his Broadway debut with a magically mind-blowing theatrical experience that includes audience participation. Not a secret: He’s gay.
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