Chapters authored
Rare Disease Advocacy Groups and Their Significance in Diagnosis, Management, Treatment, and Prevention of Rare Diseases
Rare diseases are those diseases that are not seen frequently in a population. There are about 7000 rare diseases that have been identified worldwide, and 80% of them are caused by genetic changes. Since a small number of individuals are affected with rare diseases, most clinicians are not aware of such diseases, and thus, they remain undiagnosed and untreated. Awareness regarding such diseases is essential to train clinicians to diagnose individuals affected with these disorders and to develop National/International Registries, which will serve to give information about the disease prevalence, its natural course, treatment, and management options available, to the medical fraternity. Patient advocacy groups play a remarkable and unique role in forming the collective voice of individuals living with rare diseases. They help in the identification, diagnosis, management, treatment, and prevention of such diseases. Advocacy Groups form collaborative partnerships with scientists studying such rare diseases, clinicians managing these diseases, pharmaceutical companies developing drugs, and Government officials overseeing and policy makers implementing medical regulatory processes. Thus, advocacy groups play a key role in helping patients and families with rare diseases.
Part of the book: Rare Diseases
Background, Diagnosis, Types, Management/Prevention and Implications of Chromosomal Abnormalities
Chromosomal abnormalities are caused by both meiotic and mitotic errors, and can be found in both reproductive and somatic cells. Meiotic and mitotic errors, on the other hand, may result in the development of abnormal copies of chromosomes. Somatic cell chromosomal abnormalities cause mosaicism, which implies that certain cells are normal while others express the abnormality. Fascinating genetic chromosomal discoveries have given answers to mysteries in children suffering from premature growth/retardation, ambiguous genitalia, metabolic disorders, dysmorphic syndromes, primary amenorrhea, infertility, recurrent pregnancy loss, and cancers. Many factors influence the risk of chromosomal abnormalities, including advanced maternal age, environmental factors such as smoking, alcohol intake, and exposure to chemicals/radiation, and family history. It is an inevitable fact that majority of chromosomal abnormalities arise spontaneously and are not treatable. Much attention has not been devoted to the study of chromosomal abnormalities in order to better understand the pathogenesis and rising prevalence of various clinical conditions. This chapter will address the relationship of chromosomal abnormalities in various conditions with the goal of increasing awareness of causes and furthering diagnosis, management/treatment, counseling, and prevention options. Furthermore, preimplantation and prenatal testing can be planned from the laboratory bench to the clinical bedside using sophisticated molecular techniques.
Part of the book: Down Syndrome and Other Chromosome Abnormalities