Genetics and Neurobiology of Down Syndrome

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.

Autorentext
The author is a Geneticist by education and profession, and has accumulated over 36 years of experience in research and diagnosis. Her main areas of research revolved around Human Genetics, including in vitro testing of industrial chemicals, hazard assessment of accidental and environmental exposures, radiation bio-dosimetry, genetic counseling and diagnosis of heritable and acquired genetic diseases. Her involvement in the screening of chromosomal alterations in methyl isocyanate gas (MIC) exposed population of Bhopal, India shortly after the disaster and 30 years later has earned wide recognition through publications, awards and felicitations. She has established India's first CAP accredited Genetic Diagnostic Laboratory to cater the service across India and neighboring countries. The diagnostic service also included testing of Inteferon- and Dasatinib trials on CML patients. Her research work 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 produce an atlas of chromosome aberrations causing birth defects, pubertal delay and reproductive failure, and another one on chromosomal rearrangements in hematologic malignancies. She has been actively involved in teaching and training to pass on the knowledge acquired in the field of Genetics. She is a proud mother of two children (one is Robotics Scientist, California; other is Assistant Professor of Dentistry, India) and lives with her husband Prodosh in CBD Belapur, Navi Mumbai, India.

Klappentext

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.

Inhalt

Overview
Bani Ganguly
Preface
Bani Ganguly
1. History and Overview of Down Syndrome: Then and Now
Bani Ganguly and Nitin Kadam
2. Congenital features and health aspects in Down syndrome
Bani Ganguly and Nitin Kadam
3. Chromosomal cause of Down syndrome
Bani Ganguly
4. Possible Causes of Chromosomal Non-Disjunction
Bani Ganguly
5. Prevention: Prenatal Screening, Testing and Genetic Counseling, and Socio-cultural Aspects of Down Syndrome
Bani Ganguly
6. Gene-dosage imbalance of trisomic HSA21 and Genotype-phenotype association in Down syndrome
Bani Ganguly
7. Development of specific phenotypes and genetic consequences in Down syndrome: malformations in craniofacial and cardiac anatomy, and development of leukemia and cognitive and learning deficits
Bani Ganguly
8. Mitochondrial dysfunction in Down syndrome
Bani Ganguly
9. Mitochondrial abnormalities on patho-biology in Down syndrome
Bani Ganguly
10. Neurogenesis and genetic consequences in Down syndrome
Bani Ganguly
11. Glutamatergic and GABAergic mechanisms and therapeutic targets in Down Syndrome
Bani Ganguly
12. Alzheimer Disease in Down syndrome (DSAD)
Bani Ganguly
13. MicroRNAs and epigenetic signatures in Down syndrome
Bani Ganguly
14. In vivo and in vitro models for research on Down syndrome
Bani Ganguly