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Academic Press Genetics and Neurobiology of Down Syndrome

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Genetics and Neurobiology of Down Syndrome provides a thorough review of the genetic etiology and mechanisms of trisomy 21. The author discusses the history of the syndrome, along with the clinical features and health consequences, including physical features, cognitive, and neurologic symptoms. Genetic counseling on pros and cons of prenatal screening and testing and associated ethical issues are explored. This unique book also covers the societal and demographic aspects as well as the future direction of therapeutic development. Review Comprehensive review of the genetics and neurobiology underlying Down Syndrome From the Back Cover <i>Genetics and Neurobiology of Down Syndrome</i> provides a thorough review of the genetic etiology and mechanisms of trisomy 21. The author discusses the history of the syndrome, along with the clinical features and health consequences, including physical features, cognitive, and neurologic symptoms. Genetic counseling on pros and cons of prenatal screening and testing and associated ethical issues are explored. This unique book also covers the societal and demographic aspects as well as the future direction of therapeutic development. About the Author The author is a Geneticist by education (PhD, FICMCH) and profession, and has accumulated over 36 years of experience in research and diagnosis. Her main of areas of research revolve around Human Genetics, including in vitro testing of industrial chemicals, hazard assessment of accidental and environmental exposures, radiation bio-dosimetry, diagnosis of heritable disorders and acquired genetic diseases and genetic counseling. Her involvement in the screening of chromosomal aberrations in methyl isocyanate gas (MIC) exposed population shortly after the disaster and 30 years later on those same individuals has earned wide recognition through publications. She has established India’s first CAP accredited Genetics Lab and catered the diagnostic service across the nation and neighboring countries, including testing of Inteferon-a and Dasatinib trials on CML patients. Her diagnostic and research skill has been reflected through her publications in peer-reviewed journals. She has been an assessor for accreditation of medical laboratories for ISO 17025 and ISO 15189 standards. Her current interest is to publish an atlas of chromosome aberrations causing birth defects, disturbed puberty and reproductive failure, and a separate atlas on chromosomal rearrangements in hematologic malignancies, in addition to establishing a dedicated stem cell lab for medical therapeutics and passing on the knowledge to the next generation.

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