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NHLBI TOPMed: Pharmacogenomics of Hydroxyurea in Sickle Cell Disease (PharmHU)

ABSTRACT: NHLBI TOPMed: Pharmacogenomics of Hydroxyurea in Sickle Cell Disease (PharmHU)

PROVIDER: PRJNA413114 | ENA |

REPOSITORIES: ENA

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NHLBI TOPMed: Pharmacogenomics of Hydroxyurea in Sickle Cell Disease (PharmHU)

Project description:NHLBI TOPMed: Pharmacogenomics of Hydroxyurea in Sickle Cell Disease (PharmHU)

| PRJNA413115 | ENA

NHBLI TOPMed: Pharmacogenomics of Hydroxyurea in Sickle Cell Disease (PharmHU)

Project description:<p>Sickle cell disease (SCD) is characterized by the presence of sickle hemoglobin (HbS) within circulating erythrocytes resulting in hemolytic anemia, vascular occlusion, and end organ damage due to alterations in the shape and deformability of the cell membrane. The disease is inherited in an autosomal recessive pattern, and is most commonly caused by a single nucleotide substitution in the hemoglobin subunit beta (HBB) gene located on chromosome 11. Participants in this study include children with SCD treated with hydroxyurea to pharmacologically increase fetal hemoglobin (HbF) levels and reduce disease severity. Therefore, the primary phenotype of interest in this study is the change in HbF levels in response to hydroxyurea treatment. Genetic factors have been shown to influence inter-individual variation in drug response, and identification of novel genes and variants associated with clinical outcomes in SCD will be achieved through collaboration between Baylor College of Medicine, Augusta University, Columbia University Medical Center, Emory University School of Medicine and Children's Healthcare of Atlanta, and St. Jude Children's Research Hospital. The NHLBI TOPMed Program is designed to generate scientific resources to enhance understanding of fundamental biological processes that underlie heart, lung, blood and sleep disorders (HLBS). It is part of a broader Precision Medicine Initiative, which aims to provide disease treatments that are tailored to an individual's unique genes and environment.</p>

| phs001466 | dbGaP

miRNA expression profiles of erythroid cells following hydroxyurea treatment for sickle cell anemia

Project description:We hypothesized that miRNA regulation may be invloved in hydroxyurea-mediated fetal hemoglobin induction. Microarray analysis was utilized as an initial screening tool to determine differential miRNA expression in CD71+ erythroid cells comparing cells from control individuals without sickle cell anemia to patients with sickle cell anemia prior to treatment with hydroxyurea and patients receiving the maximum tolerated dose (MTD) of hydroxurea. CD71+ cells were isolated from whole blood of control individuals (n=2), pediatric patients without hydroxyurea treatment (n=3) and pediatric patients at hydroxyurea MTD (n=3). All 8 samples were analyzed for miRNA expression.

2011-11-21 | E-GEOD-32035 | biostudies-arrayexpress

miRNA expression profiles of erythroid cells following hydroxyurea treatment for sickle cell anemia

2011-11-21 | GSE32035 | GEO

NHLBI TOPMed: Pulmonary Hypertension and the Hypoxic Response in Sickle Cell Disease

Project description:NHLBI TOPMed: Pulmonary Hypertension and the Hypoxic Response in Sickle Cell Disease

| PRJNA490230 | ENA

NHLBI TOPMed: Pulmonary Hypertension and the Hypoxic Response in Sickle Cell Disease

Project description:NHLBI TOPMed: Pulmonary Hypertension and the Hypoxic Response in Sickle Cell Disease

| PRJNA490229 | ENA

NHLBI TOPMed: Partners HealthCare Biobank

Project description:NHLBI TOPMed: Partners HealthCare Biobank

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