Shannon Kelly
A5002911080- Hemoglobinopathies and Related Disorders
- Iron Metabolism and Disorders
- Genetic Associations and Epidemiology
- Blood groups and transfusion
- Epigenetics and DNA Methylation
- Erythrocyte Function and Pathophysiology
- Telomeres, Telomerase, and Senescence
- Genomics and Rare Diseases
- Acute Myeloid Leukemia Research
- Prenatal Screening and Diagnostics
- RNA modifications and cancer
- Genetic Mapping and Diversity in Plants and Animals
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Genomics and Chromatin Dynamics
- Bioinformatics and Genomic Networks
- Single-cell and spatial transcriptomics
- HIV Research and Treatment
- Cancer Genomics and Diagnostics
- Genetic and phenotypic traits in livestock
- T-cell and B-cell Immunology
- Parvovirus B19 Infection Studies
- Genetic factors in colorectal cancer
- Folate and B Vitamins Research
- Smoking Behavior and Cessation
- Genomic variations and chromosomal abnormalities
Pacific Research Institute
2019-2025
Vitalant
2019-2025
UCSF Benioff Children's Hospital
2016-2025
University of California, San Francisco
2016-2025
NHS Lanarkshire
2024
University of the West of Scotland
2024
University of San Francisco
2022-2023
Kelly Services (United States)
2023
Fundação Centro de Hematologia e Hemoterapia de Minas Gerais
2023
Universidade de São Paulo
2023
Abstract The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate the genetic architecture and biology of heart, lung, blood sleep disorders, with ultimate goal improving diagnosis, treatment prevention these diseases. initial phases focused on whole-genome sequencing individuals rich phenotypic data diverse backgrounds. Here we describe TOPMed goals design as well available resources early insights obtained from sequence data. include a variant browser, genotype...
Summary paragraph The Trans-Omics for Precision Medicine (TOPMed) program seeks to elucidate the genetic architecture and disease biology of heart, lung, blood, sleep disorders, with ultimate goal improving diagnosis, treatment, prevention. initial phases focus on whole genome sequencing individuals rich phenotypic data diverse backgrounds. Here, we describe TOPMed goals design as well resources early insights from sequence data. include a variant browser, genotype imputation panel, sharing...
Human genetic studies support an inverse causal relationship between leukocyte telomere length (LTL) and coronary artery disease (CAD), but directionally mixed effects for LTL diverse malignancies. Clonal hematopoiesis of indeterminate potential (CHIP), characterized by expansion hematopoietic cells bearing leukemogenic mutations, predisposes both hematologic malignancy CAD. TERT (which encodes telomerase reverse transcriptase) is the most significantly associated germline locus CHIP in...
Genotype-phenotype association studies often combine phenotype data from multiple to increase statistical power. Harmonization of the usually requires substantial effort due heterogeneity in definitions, study design, collection procedures, and data-set organization. Here we describe a centralized system for harmonization that includes input domain experts, quality control, documentation, reproducible results, data-sharing mechanisms. This was developed National Heart, Lung, Blood...
BACKGROUNDCurative gene therapies for sickle cell disease (SCD) are currently undergoing clinical evaluation. The occurrence of myeloid malignancies in these trials has prompted safety concerns. Individuals with SCD predisposed to malignancies, but the underlying causes remain undefined. Clonal hematopoiesis (CH) is a premalignant condition that also confers significant predisposition cancers. While it been speculated CH may play role SCD-associated cancer predisposition, limited data...
Abstract Background Red cell alloimmunization remains a challenge for individuals with sickle disease (SCD) and contributes to increased risk of hemolytic transfusion reactions associated comorbidities. Despite prophylactic serological matching ABO, Rh, K, red persists, in part, due high frequency variant RH alleles patients SCD Black blood donors. Study Design Methods We compared genotypes rates 342 pediatric young adult on chronic therapy exposed >90,000 units at five sites across the...
Approximately 3500 children with sickle cell disease (SCD) are born in Brazil each year, but the burden of SCD morbidity is not fully characterised. A large, multi-centre cohort was established to characterise clinical outcomes Brazilian population and create infrastructure perform genotype-phenotype association studies. Eligible patients were randomly selected from participating sites recruited at routine visits. biorepository blood samples created comprehensive demographic outcome data...
Abstract Background The Recipient Epidemiology and Donor Evaluation Study‐IV‐Pediatric (REDS‐IV‐P) is a new iteration of prior National Heart, Lung, Blood Institute (NHLBI) REDS programs that focus on improving transfusion recipient outcomes across the lifespan as well safety availability blood supply. Study Design Methods US program includes centers hospitals (22 including 6 free‐standing Children's hospitals) in four geographic regions. Brazilian has 5 participating hemocenters. A Center...
Outbreaks caused by Dengue, Zika and Chikungunya viruses can spread rapidly in immunologically naïve populations. By analysing 92 newly generated viral genome sequences from blood donors recipients, we assess the dynamics of dengue virus serotype 4 during 2012 outbreak Rio de Janeiro. Phylogenetic analysis indicates that was genotype II, although two isolates I were also detected for first time Evolutionary modelling estimates are congruent, indicating a reproduction number above 1 between...
Hyperhemolysis syndrome (HHS) is a severe transfusion-related complication with complex immune pathophysiology, primarily affecting individuals sickle cell disease (SCD). Limited research has investigated the clinical and molecular risk factors for HHS, which could help identify at-risk patients. This study aimed to assess associated HHS genetic variations that increase susceptibility using candidate-gene approach. Data were obtained from REDS-III SCD cohort, comprising 2793 patients who...
Este trabalho buscou avaliar a dinâmica de inovação em indústrias maduras olhando, especificamente, o caso da indústria brasileira Gás Liquefeito Petróleo (GLP) entre os anos 2016 e 2022. Como base análise das estratégias empresas distribuição GLP no Brasil, foram selecionados projetos agraciados com Prêmio Inovação Tecnologia, entendendo que estes constituem apenas uma amostra representativa dos esforços pesquisa desenvolvimento do setor. O objetivo artigo desmistificar ideia não configura...
A match of HLA loci between patients and donors is critical for successful hematopoietic stem cell transplantation. However, the extreme polymorphism – an outcome millions years natural selection reduces chances that two individuals will carry identical combinations multilocus genotypes. Further, variability not homogeneously distributed throughout world: African populations on average have greater than non-Africans, reducing unrelated are identical. Here, we explore how self-identification...
Human genetic variation has enabled the identification of several key regulators fetal-to-adult hemoglobin switching, including BCL11A, resulting in therapeutic advances. However, despite progress made, limited further insights have been obtained to provide a fuller accounting how contributes global mechanisms fetal (HbF) gene regulation. Here, we conducted multi-ancestry genome-wide association study 28,279 individuals from cohorts spanning 5 continents define architecture human impacting...
To define the prevalence of leg ulcers and identify clinical laboratory factors associated with in adult participants.The authors conducted a cross-sectional study 1,109 patients who were 18 years or older SS Sβ0-thalassemia genotypes from Brazilian cohort. Investigators assessed 2013 to 2017.The was 21%. Increasing age (odds ratio [OR], 1.07; range, 1.06-1.09), male sex (OR, 2.03; 1.44-2.87), treatment chronic transfusion therapy 1.88; 1.15-3.03), higher indirect bilirubin levels 1.48;...
Abstract Weedy rice (Oryza spp.) is a problematic weed of cultivated (O. sativa) around the world. Recent studies have established multiple independent evolutionary origins weedy rice, raising questions about traits and genes that are essential for evolution this weed. Among world regions, South Asia stands out due to heterogeneity its populations, which can be traced at least three origins: two through de-domestication from distinct varieties, one local wild rufipogon/O. nivara). Here we...
Sickle cell disease (SCD) affects more than 13 million people and can have a significant impact on the quality of life (QoL) those persons. We performed cross-sectional study to evaluate QoL in SCD children 8–12 years old enrolled from November 2014 March 2016 large multicenter cohort Brazil. The PedsQL™ Module was used 412 six Brazilian health centers. mean age participants 10.5 193(46.7%) were women. global score 60.7, with Cronbach´s alpha 0.92. There differences socioeconomic...
BACKGROUND Genetic diversity in the RH genes among sickle cell disease (SCD) patients is well described but not yet extensively explored populations of racially diverse origin. Transfusion support complicated who develop unexpected Rh antibodies. Our goal was to describe variation a large cohort Brazilian SCD exhibiting antibodies (antibodies against antigens which patient phenotypically positive) and evaluate impact using patient's genotype guide transfusion support. STUDY DESIGN AND...