Publications by authors named "Kathleen Craft"

Familial platelet disorder (FPD) is associated with germline mutations, establishing a preleukemic state and increasing the risk of developing leukemia. Currently, there are no intervention strategies to prevent leukemia progression. Single-cell RNA sequencing ( = 10) combined with functional analysis of samples from patients with -FPD ( > 75) revealed that FPD hematopoietic stem and progenitor cells (HSPCs) displayed increased myeloid differentiation and suppressed megakaryopoiesis because of increased activation of prosurvival and inflammatory pathways.

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The 2-week, virtual Future of the Search for Life science and engineering workshop brought together more than 100 scientists, engineers, and technologists in March and April 2022 to provide their expert opinion on the interconnections between life-detection science and technology. Participants identified the advances in measurement and sampling technologies they believed to be necessary to perform searches for life elsewhere in our Solar System, 20 years or more in the future. Among suggested measurements for these searches, those pertaining to three potential indicators of life termed "dynamic disequilibrium," "catalysis," and "informational polymers" were identified as particularly promising avenues for further exploration.

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The habitability of Europa is a property within a system, which is driven by a multitude of physical and chemical processes and is defined by many interdependent parameters, so that its full characterization requires collaborative investigation. To explore Europa as an integrated system to yield a complete picture of its habitability, the Europa Clipper mission has three primary science objectives: (1) characterize the ice shell and ocean including their heterogeneity, properties, and the nature of surface-ice-ocean exchange; (2) characterize Europa's composition including any non-ice materials on the surface and in the atmosphere, and any carbon-containing compounds; and (3) characterize Europa's geology including surface features and localities of high science interest. The mission will also address several cross-cutting science topics including the search for any current or recent activity in the form of thermal anomalies and plumes, performing geodetic and radiation measurements, and assessing high-resolution, co-located observations at select sites to provide reconnaissance for a potential future landed mission.

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Familial platelet disorder with associated myeloid malignancies (FPDMM) is caused by germline RUNX1 mutations and characterized by thrombocytopenia and increased risk of hematologic malignancies. We recently launched a longitudinal natural history study for patients with FPDMM. Among 27 families with research genomic data by the end of 2021, 26 different germline RUNX1 variants were detected.

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Article Synopsis
  • Deleterious RUNX1 variants cause familial platelet disorder with myeloid malignancy (FPDMM), leading to symptoms like low platelet counts, dysfunctional platelets, and increased risk of blood cancers.
  • A study enrolled 214 participants from 2019 to 2021, revealing that many patients experienced thrombocytopenia and other blood abnormalities; some also had blood malignancies like leukemia.
  • Findings emphasize the need for a multidisciplinary approach to detect and manage these inherited disorders, aiming to improve understanding of FPDMM and guide future treatments.
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Article Synopsis
  • Germline mutations cause familial platelet disorder with associated myeloid malignancies (FPDMM), leading to low platelet counts and a significant risk (35-45%) of blood cancers throughout life.
  • In a study of 29 families, researchers identified 28 different germline variants, including various mutations that impact patient health, with a notable presence of somatic mutations linked to blood cancers in 44.4% of non-malignant patients.
  • Monitoring the changes in these mutations over time is crucial for improving clinical management of patients and understanding the progression to myeloid malignancies.
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The choice to postpone treatment while awaiting genetic testing can result in significant delay in definitive therapies in patients with severe pancytopenia. Conversely, the misdiagnosis of inherited bone marrow failure (BMF) can expose patients to ineffectual and expensive therapies, toxic transplant conditioning regimens, and inappropriate use of an affected family member as a stem cell donor. To predict the likelihood of patients having acquired or inherited BMF, we developed a 2-step data-driven machine-learning model using 25 clinical and laboratory variables typically recorded at the initial clinical encounter.

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Increasing interest in the detection of biogenic signatures, such as amino acids, on icy moons and bodies within our solar system has led to the development of compact instruments. Given the expected dilute biosignatures and high salinities of these extreme environments, purification of icy samples before analysis enables increased detection sensitivity. Herein, we outline a novel compact cation exchange method to desalinate proteinogenic amino acids in solution, independent of the type and concentration of salts in the sample.

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Hydrothermal spring deposits host unique microbial ecosystems and have the capacity to preserve microbial communities as biosignatures within siliceous sinter layers. This quality makes terrestrial hot springs appealing natural laboratories to study the preservation of both organic and morphologic biosignatures. The discovery of hydrothermal deposits on Mars has called attention to these hot springs as Mars-analog environments, driving forward the study of biosignature preservation in these settings to help prepare future missions targeting the recovery of biosignatures from martian hot-spring deposits.

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The Mars Curiosity rover carries a diverse instrument payload to characterize habitable environments in the sedimentary layers of Aeolis Mons. One of these instruments is Sample Analysis at Mars (SAM), which contains a mass spectrometer that is capable of detecting organic compounds via pyrolysis gas chromatography mass spectrometry (py-GC-MS). To identify polar organic molecules, the SAM instrument carries the thermochemolysis reagent tetramethylammonium hydroxide (TMAH) in methanol (hereafter referred to as TMAH).

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Cannabis sativa is an economically important source of durable fibers, nutritious seeds, and psychoactive drugs but few economic plants are so poorly understood genetically. Marijuana and hemp were crossed to evaluate competing models of cannabinoid inheritance and to explain the predominance of tetrahydrocannabinolic acid (THCA) in marijuana compared with cannabidiolic acid (CBDA) in hemp. Individuals in the resulting F2 population were assessed for differential expression of cannabinoid synthase genes and were used in linkage mapping.

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Premise Of The Study: Pollination patterns determine the reproductive neighborhood size of plants, the connectivity of populations, and the impacts of habitat fragmentation. We characterized pollination in three populations of Quercus macrocarpa occurring in a highly altered landscape in northeastern Illinois to determine whether isolated remnant stands were reproductively isolated. •

Methods: We used microsatellites to genotype all adults and 787 acorns from two isolated savanna remnants and a stand in an old-growth forest.

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1. The extent to which plant-herbivore feeding interactions are specialized is key to understand the processes maintaining the diversity of both tropical forest plants and their insect herbivores. However, studies documenting the full complexity of tropical plant-herbivore food webs are lacking.

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Comparative population genetics of ecological guilds can reveal generalities in patterns of differentiation bearing on hypotheses regarding the origin and maintenance of community diversity. Contradictory estimates of host specificity and beta diversity in tropical Lepidoptera (moths and butterflies) from New Guinea and the Americas have sparked debate on the role of host-associated divergence and geographic isolation in explaining latitudinal diversity gradients. We sampled haplotypes of mitochondrial cytochrome c oxidase I from 28 Lepidoptera species and 1,359 individuals across four host plant genera and eight sites in New Guinea to estimate population divergence in relation to host specificity and geography.

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As highly polymorphic DNA markers become increasingly available for a wide range of plant and animal species, there will be increasing opportunities for applications to forensic investigations. To date, however, relatively few studies have reported using DNA profiles of non-human species to place suspects at or near crime scenes. Here we describe an investigation of a double homicide of a female and her near-term fetus.

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Many oak species are interfertile, and morphological and genetic evidence for hybridization is widespread. Here we use DNA microsatellite markers to characterize hybridization between two closely related oak species in a mixed stand in central coastal California, Quercus lobata (valley oak) and Q. douglasii (blue oak) (Fagaceae).

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