Todd Eckdahl – författare
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4 produkter
4 produkter
Häftad, Engelska, 2016
740 kr
Skickas inom 3-6 vardagar
Cystic fibrosis (CF) is one of the most common genetic diseases, affecting about 70,000 people throughout the world, with over 1,000 new cases diagnosed each year. This book describes the symptoms of CF including lung disease, digestive problems, pancreatic insufficiency, liver disease, intestinal obstruction, and infertility. It explains how CF is caused by mutations in the CFTR gene encoding a protein ion channel that maintains the balance of salt and water in the lungs and other organs. The book presents CF as an autosomal recessive disease that can arise in families with no prior history of CF. The reader will learn about treatments and therapies for CF, including antibiotics for infections, medicines for improved digestion, respiratory therapy, and pancreatic enzyme replacement. The book describes promising new pharmaceutical discoveries that enable personalized medicine for the treatment of CF. It evaluates the prospects for curing CF through gene therapy and explains how genome editing may be used in the future to correct the CFTR gene mutations underlying CF.
Häftad, Engelska, 2016
492 kr
Skickas inom 3-6 vardagar
Hemophilia is a genetic disease that impairs the normal process of blood clotting and results in uncontrolled external and internal bleeding. The reader of this book will learn how a diagnosis of hemophilia is made by blood clotting tests and measurements of clotting factor levels in blood. The book describes how hemophilia A and B are caused by mutations in genes that encode clotting factor VIII and clotting factor IX, respectively, both of which are carried on the X chromosome. As a result, almost all children born with hemophilia A and B are boys. Hemophilia C is caused by mutations in the clotting factor XI gene on chromosome 4, and occurs in males and females with equal frequency. The author details the use of factor replacement therapy to treat hemophilia, and evaluates the prospects for curing hemophilia through gene therapy and genome editing.
Häftad, Engelska, 2017
492 kr
Skickas inom 3-6 vardagar
This book describes Huntington's disease (HD), a rare neurodegenerative genetic disorder that causes a triad of motor, cognitive, and psychiatric/behavioral symptoms and affects about 6 in 100,000 people worldwide. Although the age of onset of HD symptoms is usually 30 to 50 years, a rare juvenile-onset form of HD also occurs. The autosomal dominant pattern of inheritance followed by HD is illustrated in the book with pedigree scenarios. The author details how mutations in the HTT gene on chromosome 4 cause HD and how a genetic test can be used by people who might have inherited adult-onset HD and couples who are at risk for passing HD on to their children. The book describes the available treatments for HD and presents new approaches such as experimental drugs, stem cell therapy, and gene therapy that might be able to effectively treat or even cure HD.
Häftad, Engelska, 2017
492 kr
Skickas inom 3-6 vardagar
Sickle cell disease (SCD) is the most common genetic blood disorder in the world. Millions of people in the world have SCD and about 300,000 babies are born with it each year. Readers will learn about the major symptoms of SCD, including chronic anemia, delayed growth, spleen dysfunction, opportunistic infections, vision loss, leg ulcers, stroke, and heart problems. The book explains how the primary cause of SCD is a gene mutation that causes hemoglobin to polymerize in red blood cells, making them adopt an abnormal sickle shape. Sickled cells carry less oxygen and occlude blood vessels in tissues and organs throughout the body. The reader will learn how SCD is inherited and how genetic testing can provide information that prospective parents can use to make reproductive decisions. The book presents treatments for SCD such as pain medications, antibiotic therapy, blood transfusions, and bone marrow transplantation. Future prospects for diagnosing, treating, and curing SCD are evaluated, including maternal blood screening, preimplantation genetic diagnosis, gene therapy, and genome editing.