Medical genetics involves the
application of genetic principles in the practice of medicine. Medical genetics
encompasses diagnosis and treatment of genetic diseases, study of inheritance of
diseases in families, mapping of disease genes to their chromosome locations,
study of the molecular genetics and pathogenesis of inherited disorders,
provision of genetic counseling for families, and recently, investigations of
methods for gene therapy. Topics covered includes: Mendelian Genetics, Non-Mendelian
Genetics, Clinical Cytogenetics, Dysmorphology, Genetic Counseling, Prenatal
Diagnosis, Clinical DNA Diagnosis, Cancer Genetics, Problem Solving in Genetics,
Legal and Ethical Issues in Human Genetics.
The objective of this note is have a
greater awareness and appreciation of classical and molecular genetics with
emphasis on genetic material and its formation, transmission, function and
organization. Topics covered includes: historical perspective of genetics,
inheritance patterns and the chromosomal basis of heredity, sex chromosomes in
sex determination and sexual dimorphism, cells reproduce through DNA and nucleic
acids, DNA transcribes into RNA that ultimately translates into protein,
prokaryotic and eukaryotic genes, genetic basis of cancer and how it relates to
the cell cycle.
This lecture note
covers the following topics: The genetic structure of populations, Genetic
transmission in populations, The genetics of natural selection, Genetic drift,
Quantitative genetics, Molecular evolution, Phylogeography.
The first Section
of this book provides readers with background and several methodologies for
understanding genetic disorders. Genetic defects, diagnoses and treatments of
the respective unifactorial and multifactorial genetic disorders are reviewed in
the second and third Sections.
This book aims to provide an overview on
some of the latest developments in several genetic diseases. It contains 14
chapters focused on various genetic disorders addressing epidemiology, etiology,
molecular basis and novel treatment options for these diseases.