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Search Results to Paola Sebastiani, PhD

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Research Expertise & Professional Interests Paola Sebastiani, Ph.D. joined the Department of Biostatistics in 2003 as an Associate Professor, after holding faculty positions in Italy, England and United States. She is author of more than 200 peer-reviewed publications in theoretical and methodological statistics, artificial intelligence, computational biology and genetics. She is statistical consultant for Circulation and also a regular reviewer for major journals in statistics and computer science, and serves on the program committee of several international conferences at the interface between statistics and artificial intelligence. When she joined the Department of Biostatistics at Boston University in 2003, Dr. Sebastiani had experience in interdisciplinary collaborations and a track record of developing novel methodologies in Bayesian statistics, machine learning, decision theory, graphical modeling and statistical experimental design. She leveraged this experience to develop a wide network of collaborations with investigators from the Bioinformatics program, the Genetics and Genomics program, and the Molecular and Translational Medicine Program. In these collaborations Dr. Sebastiani often introduced original solutions by developing innovative Bayesian techniques for the analysis of genomic and genetic data and for the joint modeling of the genetic, genomic and phenotypic basis of complex traits. This work has been supported by the National Science Foundation and the National Institutes for Health and is currently funded by grants of which Dr. Sebastiani is Principal Investigator. Her contributions include, among others, a Bayesian model-based clustering procedure of temporal expression profiles (CAGED), a robust Bayesian approach to analyze differential gene expression using model averaging (BADGE), and novel methods for analysis of genetic data. Dr. Sebastiani was a pioneer in using a Bayesian network approach to model the genetic and phenotypic basis of complications of sickle cell anemia. She developed the first network model for predicting stroke in patients with sickle cell anemia and a network-based prognostic model that integrates sub-phenotypes of sickle cell anemia patients into a score of the overall severity of disease. This model was successfully evaluated by independent investigators and has opened several new research areas in sickle cell disease. These results were the fruit of a long and productive collaboration with Dr. Steinberg to study the genetic basis of different clinical presentations of sickle cell disease. Dr. Sebastiani has also cultivated a strong and growing reputation as a biostatistician in the fields of gerontology, biology and epidemiology of human aging and longevity. She is the primary statistician of the BU site of the Long Life Family Study, and of the New England Centenarian Study directed by Dr. Thomas Perls. Dr. Sebastiani used an original Bayesian approach to verify the “compression of morbidity hypothesis” that had long been debated in the field of gerontology, developed a method for scoring sibships for familial longevity that can be used to enroll the most informative families in observational studies of human longevity, and introduced a novel Bayesian approach to model the genetic and phenotypic basis of exceptional human longevity. The analysis provides evidence that extreme human longevity is not due to absence of disease variants but to rare combinations of large numbers of common protective variants. Her current work focuses on the generation of molecular profiles to predict patterns of aging, and the biology of aging using a system-based approach.

One or more keywords matched the following items that are connected to Sebastiani, Paola

Item TypeName
Concept Anemia, Sickle Cell
Academic Article Differential gene expression in pulmonary artery endothelial cells exposed to sickle cell plasma.
Academic Article Genetic dissection and prognostic modeling of overt stroke in sickle cell anemia.
Academic Article Association of klotho, bone morphogenic protein 6, and annexin A2 polymorphisms with sickle cell osteonecrosis.
Academic Article Sickle cell leg ulcers: associations with haemolysis and SNPs in Klotho, TEK and genes of the TGF-beta/BMP pathway.
Academic Article A network model to predict the risk of death in sickle cell disease.
Academic Article Fetal hemoglobin in sickle cell anemia: Bayesian modeling of genetic associations.
Academic Article Association between wind speed and the occurrence of sickle cell acute painful episodes: results of a case-crossover study.
Academic Article BCL11A is a major HbF quantitative trait locus in three different populations with beta-hemoglobinopathies.
Academic Article Genome-wide association studies and the genetic dissection of complex traits.
Academic Article Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster.
Academic Article Genetic modifiers of the severity of sickle cell anemia identified through a genome-wide association study.
Academic Article Leg ulcers in sickle cell disease.
Academic Article Severe sickle cell anemia is associated with increased plasma levels of TNF-R1 and VCAM-1.
Academic Article Fetal hemoglobin in sickle cell anemia.
Academic Article Ancestry of African Americans with sickle cell disease.
Academic Article Fetal hemoglobin in sickle cell anemia: molecular characterization of the unusually high fetal hemoglobin phenotype in African Americans.
Academic Article A genome-wide association study of total bilirubin and cholelithiasis risk in sickle cell anemia.
Academic Article Meta-analysis of 2040 sickle cell anemia patients: BCL11A and HBS1L-MYB are the major modifiers of HbF in African Americans.
Academic Article Genetic modifiers of sickle cell disease.
Academic Article Fetal hemoglobin in sickle cell anemia: genetic studies of the Arab-Indian haplotype.
Academic Article Genetic determinants of haemolysis in sickle cell anaemia.
Academic Article Genetic studies of fetal hemoglobin in the Arab-Indian haplotype sickle cell-ß(0) thalassemia.
Academic Article Fetal hemoglobin in sickle cell anemia: a glass half full?
Academic Article Sickle cell disease in Saudi Arabia: the phenotype in adults with the Arab-Indian haplotype is not benign.
Academic Article Prediction of fetal hemoglobin in sickle cell anemia using an ensemble of genetic risk prediction models.
Academic Article Hypoxic response contributes to altered gene expression and precapillary pulmonary hypertension in patients with sickle cell disease.
Academic Article The genetics of hemoglobin A2 regulation in sickle cell anemia.
Academic Article BCL11A enhancer haplotypes and fetal hemoglobin in sickle cell anemia.
Academic Article Genetic polymorphism of APOB is associated with diabetes mellitus in sickle cell disease.
Academic Article Original Research: A case-control genome-wide association study identifies genetic modifiers of fetal hemoglobin in sickle cell disease.
Academic Article Variants of ZBTB7A (LRF) and its ß-globin gene cluster binding motifs in sickle cell anemia.
Academic Article Homozygosity for a haplotype in the HBG2-OR51B4 region is exclusive to Arab-Indian haplotype sickle cell anemia.
Academic Article Learning Bayesian Networks from Correlated Data.
Academic Article A candidate transacting modulator of fetal hemoglobin gene expression in the Arab-Indian haplotype of sickle cell anemia.
Academic Article A Comprehensive, Ethnically Diverse Library of Sickle Cell Disease-Specific Induced Pluripotent Stem Cells.
Grant Genetic Dissection of Sickle Cell Anemia Phenotypes
Academic Article Genetic determinants of HbF in Saudi Arabian and African Benin haplotype sickle cell anemia.
Academic Article A phased SNP-based classification of sickle cell anemia HBB haplotypes.
Academic Article Blood
Academic Article Blood
Academic Article Biomarker signatures of sickle cell disease severity.
Academic Article BCL2L1 is associated with ?-globin gene expression.
Grant Biomarker Profiles of Sickle Cell Disease
Grant Severity Index for Sickle Cell anemia in the Eastern Province of Saudi Arabia

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  • sickle cell disease