This book describes newborn screening as a public health program for the early detection of genetic disorders.It presents the recommended uniform screening panel (RUSP), a list of genetic disorders recommended by the U.S. government for states to include in newborn screening programs. The author describes the categorization of RUSP genetic disorders, discusses the symptoms and health complications of examples from each category, and explains clinical laboratory tests used for newborn screening. The book explores the underlying molecular genetic causes of genetic disorders, and how this information is used for genetic testing during newborn screening and diagnosis. It presents the patterns of inheritance of monogenic genetic disorders, and uses hypothetical family scenarios to illustrate them. Treatments and therapies for selected RUSP genetic disorders are described that illustrate the benefits of early diagnosis. The book describes future prospects for the prevention, diagnosis, and treatment of genetic disorders detected by newborn screening, including experimental drug treatments, the possibility of newborn genome sequencing, and gene therapy.
Circa l’autore
Dr. Todd T. Eckdahl earned a BS in chemistry from the University of Minnesota, Duluth, and a Ph D in molecular genetics from Purdue University. He is a professor of biology at Missouri Western State University, where he teaches genetics and conducts research with undergraduate students. Dr. Eckdahl has published over 40 articles on molecular genetics, synthetic biology, and undergraduate science education. He is a member of the Missouri Academy of Science, the Genome Consortium for Active Teaching, and the Genomics Education Partnership. Dr. Eckdahl has been recognized for his teaching and research with the Missouri Governor’s Award for Excellence in Teaching, the Missouri Western Board of Governors Distinguished Professor Award, the James V. Mehl Outstanding Faculty Scholarship Award, the Missouri Western Alumni Association Distinguished Faculty Award, and the Jesse Lee Meyers Excellence in Teaching Award.
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