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Renaissance of Sickle Cell Disease Research in the Genome Era

Renaissance of Sickle Cell Disease Research in the Genome Era
Author: Betty S Pace
Publisher: World Scientific
Total Pages: 396
Release: 2007-01-24
Genre: Medical
ISBN: 1908979917

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The Human Genome Project has spawned a Renaissance of research faced with the daunting expectation of personalized medicine for individuals with sickle cell disease in the Genome Era. This book offers a comprehensive and timeless account of emerging concepts in clinical and basic science research, and community concerns of health disparity to educate professionals, students and the general public about meeting this challenging expectation. Contributions from physicians, research scientists, scientific administrators and community workers make Renaissance of Sickle Cell Disease Research in the Genome Era unique among the catalogue of books on this genetic disorder. Part 1 offers detailed review of the National Heart Lung and Blood Institute's leadership role in funding sickle cell research, as well as developing progressive research initiatives and the predicted impact of the Human Genome Project. Part 2 gives an account of several clinical research perspectives based on the Cooperative Study of Sickle Cell Disease. These include recommendations for newborn screening, pain management, stroke, transfusion therapy and pediatric and adult healthcare. Part 3 offers novel insights into basic science research progress and the impact of the Human Genome Project on the direction of hemoglobinopathy research, including hemoglobin switching, bone marrow transplantation and gene therapy. Part 4 engages the reader in a culture-based discussion of the stigma attached to sickle cell disease in the African American community and the apprehensions about genetic research in this community. It concludes with a global perspective on sickle cell disease from African, European and American experiences. For readers seeking a definitive account of sickle cell disease appropriate for students, researchers and community workers, this collaborative effort is an ideal textbook. Contents:Sickle Cell Disease: Demystifying the Beginnings (C Reid & G Rodgers)Sponsorship of Sickle Cell Disease Research by the National Institutes of Health: A Brief History and Projections for the Future (G L Evans & D G Badman)The Human Genome Project (B S Pace)Sickle Cell Disease: A Phenotypic Patchwork (K Smith-Whitley & B S Pace)Preventive Care and Advances in the Treatment of Sickle Cell Disease (C T Quinn & G R Buchanan)Sickle Cell Disease in Adults (J Haynes, Jr. & A Pack-Mabien)Pain in Sickle Cell Disease: A Multidimensional Construct (L J Benjamin & R Payne)Transfusion Therapy in Sickle Cell Disease (C Hoppe et al.)Hemoglobin S Polymerization, Just the Beginning (F A Ferrone)Damage to the Red Blood Cell Membrane in Sickle Cell Disease (S R Goodman & C Joiner)Fetal Hemoglobin for What Ails Sickle Hemoglobin (S F Ofori-Acquah & B S Pace)Genetic Modulation of Sickle Cell Disease (M H Steinberg & L T Swee)Molecular Framework of Hemoglobin Switching (S Fiering)Dynamic Nucleoprotein Structure of the ß-Globin Locus: Establishing a Rational Molecular Basis for the Therapeutic Modulation of Hemoglobin Switching (E Bresnick et al.)Vertebrate Models for Sickle Cell Disease Research (B H Paw et al.)Stem Cell Biology (W Li & A W Flake)Bone Marrow Transplantation (R I Raphael & M C Walters)Genetically Engineered Cures: Gene Therapy for Sickle Cell Disease (P Malik & P Leboulch)Sickle Cell Disease: The Past, Present and Future Social and Ethical Dilemmas (V L Bonham, Jr. et al.)It Takes a Village to Cure Sickle Cell Disease (R Peterson & D Davis-Maye)Beyond National Borders: A Global Perspective on Advances in Sickle Cell Disease Research and Management, and New Challenges in the Genome Era (S F Ofori-Acquah & K Ohene-Frempong) Readership: Primary market: Clinical and basic researchers in haematology and genetics, graduate students and postdoctoral fellows; Secondary market: Nursing students, community sickle cell programs, medical school libraries, public library; Tertiary market: Suitable for a graduate course in genetics, genomics as a supplemental text, probably not a primary text. Keywords:Sickle Cell Anemia/Disease;Genomic Era;National Heart Lung and Blood Institute;National Institute of Diabetes and Digestive and Kidney Diseases;Stroke;Pain Management;Fetal Hemoglobin;Hemoglobin Switching;Transgenic Mouse Model;Locus Control Region;African-American Community;Sickle Cell Africa;World Health OrganizationKey Features:Covers the latest progress made in clinical, basic and social research of SCDCaptures the momentum of research efforts related to SCD; this is very timely in light of the plan to perform the first gene therapy treatment in 2006Five out of ten of the current Directors of the National Heart, Lung, and Blood Institute (NHLBI)-funded Comprehensive Sickle Cell Centers are amongst the prominent contributors to the book. These clinical and basic researchers have a major influence in shaping the future focus of programs for sickle cell disease in the United States


Renaissance of Sickle Cell Disease Research in the Genome Era

Renaissance of Sickle Cell Disease Research in the Genome Era
Author: Betty Pace
Publisher: Imperial College Press
Total Pages: 394
Release: 2007
Genre: Science
ISBN: 1860946453

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The Human Genome Project has spawned a Renaissance of research faced with the daunting expectation of personalized medicine for individuals with sickle cell disease in the Genome Era. This book offers a comprehensive and timeless account of emerging concepts in clinical and basic science research, and community concerns of health disparity to educate professionals, students and the general public about meeting this challenging expectation. Contributions from physicians, research scientists, scientific administrators and community workers make Renaissance of Sickle Cell Disease Research in the Genome Era unique among the catalogue of books on this genetic disorder.Part 1 offers detailed review of the National Heart Lung and Blood Institute's leadership role in funding sickle cell research, as well as developing progressive research initiatives and the predicted impact of the Human Genome Project. Part 2 gives an account of several clinical research perspectives based on the Cooperative Study of Sickle Cell Disease. These include recommendations for newborn screening, pain management, stroke, transfusion therapy and pediatric and adult healthcare. Part 3 offers novel insights into basic science research progress and the impact of the Human Genome Project on the direction of hemoglobinopathy research, including hemoglobin switching, bone marrow transplantation and gene therapy. Part 4 engages the reader in a culture-based discussion of the stigma attached to sickle cell disease in the African American community and the apprehensions about genetic research in this community. It concludes with a global perspective on sickle cell disease from African, European and American experiences. For readers seeking a definitive account of sickle cell disease appropriate for students, researchers and community workers, this collaborative effort is an ideal textbook.


Blood and Bone Marrow Pathology E-Book

Blood and Bone Marrow Pathology E-Book
Author: Anna Porwit
Publisher: Elsevier Health Sciences
Total Pages: 724
Release: 2011-05-27
Genre: Medical
ISBN: 0702045357

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Chapters have been totally rewritten and some new chapters have been added especially on myeloid malignancies, in line with the WHO 2008 Classification All chapters have been revised to include new aspects of molecular biology and updated concerning flow cytometry diagnostics Greater emphasis on practical diagnostic aspects for all disorders Brand new editorial and contributing author team. Full Online text through Expert Consult. Full downloadable Image Bank


Genetics and Global Public Health

Genetics and Global Public Health
Author: Simon M. Dyson
Publisher: Routledge
Total Pages: 221
Release: 2014-06-11
Genre: Medical
ISBN: 1317977424

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Sickle cell and thalassaemia are among the world’s most common genetic conditions. They are especially common in Africa, Brazil, the Caribbean, the Middle East and Asia. They affect all ethnic groups but they particularly impact on minority ethnic groups in North America, Europe and Australasia. Much research has focused on clinical, laboratory and genetic studies of these conditions. Through a wide-ranging selection of readings based on social scientific research into sickle cell and thalassaemia, this book seeks to redress this imbalance. This is important as, through an examination of the different social, economic and cultural contexts of the lives of people living with sickle cell or thalassaemia, the contributors demonstrate that people are more than the sum of their genes and that their life experiences are rarely derived solely from the clinical severity of their condition but depend on the social context of their lives. Genetics and Global Public Health presents a new concluding chapter which highlights the critical nature of social science research for sickle cell and thalassaemia communities, providing key insights into the social contexts of human behaviour and analysing how societal arrangements could change to assist people living with either condition. It will be of great interest to postgraduate and research students as well as professionals working in the field of public health. This book was originally published as a special issue of the journal Ethnicity and Health.


Sickle Cell Pain

Sickle Cell Pain
Author: Samir K. Ballas
Publisher: Lippincott Williams & Wilkins
Total Pages: 1004
Release: 2015-06-01
Genre: Medical
ISBN: 1496331834

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Sickle Cell Pain is a panoramic, in-depth exploration of every scientific, human, and social dimension of this cruel disease. This comprehensive, definitive work is unique in that it is the only book devoted to sickle cell pain, as opposed to general aspects of the disease. The 752-page book links sickle cell pain to basic, clinical, and translational research, addressing various aspects of sickle pain from molecular biology to the psychosocial aspects of the disease. Supplemented with patient narratives, case studies, and visual art, Sickle Cell Pain’s scientific rigor extends through its discussion of analgesic pharmacology, including abuse-deterrent formulations. The book also addresses in great detail inequities in access to care, stereotyping and stigmatization of patients, the implications of rapidly evolving models of care, and recent legislation and litigation and their consequences.


Gene Regulatory Sequences and Human Disease

Gene Regulatory Sequences and Human Disease
Author: Nadav Ahituv
Publisher: Springer Science & Business Media
Total Pages: 289
Release: 2012-05-30
Genre: Medical
ISBN: 1461416833

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In Gene Regulatory Sequences and Human Disease, the Editor will introduce the different technological advances that led to this breakthrough. In addition, several examples will be provided of nucleotide variants in noncoding sequences that have been shown to be associated with various human diseases.


Haematology Nursing

Haematology Nursing
Author: Marvelle Brown
Publisher: John Wiley & Sons
Total Pages: 338
Release: 2012-03-06
Genre: Medical
ISBN: 1118276124

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Haematology Nursing is a comprehensive handbook, with a nursing focus, on the care and management of patients with haematological disorders. Divided into four sections, the first provides an introduction to haematology, looking at haemopoiesis, immunology and genetics. Section Two covers non-malignant haematology, including anaemia, haemoglobinopathies and haemochromatosis. Section Three explores the pathophysiology, care and management of myeloproliferative and lymphoproliferative disorders, including leukaemia, myeloma, and lymphoma. The final section provides information on various nursing care interventions, including blood transfusion, venous access devices, and palliative care. Aimed principally at nurses working in a variety of settings including haematology/oncology wards, medical/haematology wards, specialist bone marrow transplant centres, and community settings, Haematology Nursing is an essential and much-needed reference guide.


Biomateriomics

Biomateriomics
Author: Steven W. Cranford
Publisher: Springer Science & Business Media
Total Pages: 446
Release: 2012-05-23
Genre: Technology & Engineering
ISBN: 9400716109

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Biomateriomics is the holistic study of biological material systems. While such systems are undoubtedly complex, we frequently encounter similar components -- universal building blocks and hierarchical structure motifs -- which result in a diverse set of functionalities. Similar to the way music or language arises from a limited set of music notes and words, we exploit the relationships between form and function in a meaningful way by recognizing the similarities between Beethoven and bone, or Shakespeare and silk. Through the investigation of material properties, examining fundamental links between processes, structures, and properties at multiple scales and their interactions, materiomics explains system functionality from the level of building blocks. Biomateriomics specifically focuses the analysis of the role of materials in the context of biological processes, the transfer of biological material principles towards biomimetic and bioinspired applications, and the study of interfaces between living and non-living systems. The challenges of biological materials are vast, but the convergence of biology, mathematics and engineering as well as computational and experimental techniques have resulted in the toolset necessary to describe complex material systems, from nano to macro. Applying biomateriomics can unlock Nature’s secret to high performance materials such as spider silk, bone, and nacre, and elucidate the progression and diagnosis or the treatment of diseases. Similarly, it contributes to develop a de novo understanding of biological material processes and to the potential of exploiting novel concepts in innovation, material synthesis and design.


Point Mutation

Point Mutation
Author: Colin Logie
Publisher: BoD – Books on Demand
Total Pages: 356
Release: 2012-03-21
Genre: Medical
ISBN: 9535103318

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This book concerns the signatures left behind in chromosomes by the forces that drive DNA code evolution in the form of DNA nucleotide substitutions. Since the genetic code predetermines the molecular basis of life, it could have been about any aspect of biology. As it happens, it is largely about recent adaptation of pathogens and their human host. Nine chapters are medically oriented, two are bioinformatics-oriented and one is technological, describing the state of the art in synthetic point mutagenesis. What stands out in this book is the increasing rate at which DNA data has been amassed in the course of the past decade and how knowledge in this vibrant research field is currently being translated in the medical world.


Sickle Cell Anemia

Sickle Cell Anemia
Author: Fernando Ferreira Costa
Publisher: Springer
Total Pages: 435
Release: 2016-03-29
Genre: Medical
ISBN: 3319067133

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Although sickle cell anemia was the first molecular disease to be identified, its complex and fascinating pathophysiology is still not fully understood. A single mutation in the beta-globin gene incurs numerous molecular and cellular mechanisms that contribute to the plethora of symptoms associated with the disease. Our knowledge regarding sickle cell disease mechanisms, while still not complete, has broadened considerably over the last decades. Sickle Cell Anemia: From Basic Science to Clinical Practice aims to provide an update on our current understanding of the disease’s pathophysiology and use this information as a basis to discuss its manifestations in childhood and adulthood. Current therapies and prospects for the development of new approaches for the management of the disease are also covered.