Alexander G. Bick

Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood

Yongmei Liu, Eric Boerwinkle, Yash Pershad, K.E. North et autres

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A 30-gene classifier distinguishes low-risk MDS HSPCs from healthy HSPCs

Pawan Bhat, Joseph C. Van Amburg, Chad R. Potts, Thomas J. Gracie et autres

Myelodysplastic syndromes (MDS) are a group of malignant clonal disorders that are characterized by functional impairment of hematopoiesis, morphologic dysplasia, and genetic heterogeneity 1 . While less likely to transform to acute leukemia, lower-risk MDS (LR-MDS) include patients with IPSS-M moderate low …

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KDIGO-defined kidney dysfunction predicts long-term outcomes in a multicenter cohort of adults with sickle cell disease

Xu Zhang, Michael R. DeBaun, Kristin Wuichet, Rima S. Zahr et autres

ABSTRACT: Approximately 15% of deaths in adults with sickle cell disease (SCD) are attributed to kidney failure. Although urine albumin-to-creatinine ratio (UACR) is recommended to screen for kidney damage, its utility in predicting long-term complications in SCD remains unclear. We investigated whether …

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Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy

Jie Liu, Duc Tran, Liying Xue, Brian J. Wiley et autres

With age, clonal expansions occur pervasively across normal tissues yet only in rare instances lead to cancer, despite being driven by well-established cancer drivers. Characterization of the factors that influence clonal progression is needed to inform interventional approaches. Germline genetic variation influences …

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A blueprint for pursuing therapeutic interventions and early phase clinical trials in clonal haematopoiesis

Tamanna Haque, Aditi Shastri, Pinkal Desai, Zhuoer Xie et autres

The age-associated mutational state of clonal haematopoiesis (CH) is linked to multiple adverse health outcomes. As higher risk CH can lead to progressive neoplastic or vascular disease, there is interest in developing clinical trials to mitigate risk associated with CH. Given the …

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Germline genetics, disease, and exposure to medication influence longitudinal dynamics of clonal hematopoiesis

Taralynn Mack, Yash Pershad, Caitlyn Vlasschaert, Cosmin A. Bejan et autres

Germline genetics, disease, and exposure to medication influence longitudinal dynamics of clonal hematopoiesisClonal hematopoiesis of indeterminate potential (CHIP) occurs when a hematopoietic stem cell acquires a somatic driver mutation in a leukemia-associated gene, with a variant allele fraction (VAF) exceeding 2% in …

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Combined Natural Language Processing and Gpt-4 Pathology Report Interpretation Efficiently Identify a Myelodysplastic Syndrome Cohort for Large Scale Clinical Research Applications

Thomas J. Gracie, Yash Pershad, Cosmin A. Bejan, Alexander G. Bick et autres

Introduction Cohort studies provide a unique opportunity to test hypotheses that cannot be evaluated through randomized controlled trials. To be effective, they require a substantial and carefully chosen cohort, which typically necessitates time-consuming doctor chart reviews. Some Electronic Health Record (EHR) compatible …

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Bone Marrow Spatial Multi-Omics Identifies Reduced Interactions between Hematopoietic Stem Cells and Myeloid Cells in Myelodysplastic Syndrome

Alyssa Parker, Joseph C. Van Amburg, Tianzi Zhang, Diane C. Saunders et autres

Introduction: Myelodysplastic syndrome (MDS) is driven by aberrant hematopoietic stem and progenitor cells and, therefore, affects the cellular constitution of bone marrow. While it is known that cell proportions change in MDS, how cell signaling and cell-cell interactions change is poorly understood. …

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Distinct Transcriptomic Cell States Differentiate Low-Risk MDS from Healthy Marrow

Pawan Bhat, Joseph C. Van Amburg, Thomas J. Gracie, Justin A. Cartailler et autres

Introduction Myelodysplastic syndromes (MDS) are a group of malignancies that involve ineffective hematopoiesis and often include a large pool of immature blasts. Previous studies have identified malignant ontogeny in hematopoietic stem and progenitor (HSPC) and mature myeloid cells in in vivo models, …

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Genomic, phenomic, and geographic associations of leukocyte telomere length in the United States

Tetsushi Nakao, Satoshi Koyama, Buu Truong, Md Mesbah Uddin et autres

Abstract Leukocyte telomere length (LTL) is associated with multiple conditions, including cardiovascular diseases and neoplasms, yet their differential associations across diverse individuals are largely unknown. We estimated LTL from blood-derived whole genome sequences in the All of Us Research Program (n=242,494) with …

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CHIP shot: aiming at therapy-induced clonal hematopoiesis

Leo Y. Luo, Alexander G. Bick

In this issue of Blood Advances, Nead et al 1 provides critical insights into the relationship between cancer therapy and clonal hematopoiesis (CH).CH, also known as CHIP (CH of indeterminate potential) in the setting of clonal expansion driven by acquired somatic mutations, …

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Interoperability of phenome-wide multimorbidity patterns: a comparative study of two large-scale EHR systems

Nick Strayer, Tess Vessels, Karmel W. Choi, Siwei Zhang et autres

Background: Electronic health records (EHR) are increasingly used for studying multimorbidities. However, concerns about accuracy, completeness, and EHRs being primarily designed for billing and administrative purposes raise questions about the consistency and reproducibility of EHR-based multimorbidity research. Methods: Utilizing phecodes to represent …

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