Rare Disease

This book consolidates the recent advances in rare disease biology and therapeutics, covering a wide spectrum of interrelated topics, and disseminates this essential knowledge in a comprehensible way to a greater scientific and clinical audience as well as patients, caregivers, and drug and device manufacturers, especially to support rare disease product development.

This book intends to share and exchange the advancing knowledge and experiences from the authors, who have the necessary expertise within the various topics and subjects in the research, diagnosis, and management of rare diseases. Author is hoped they are able to provide further benefits to patients and families with the development of early and accurate diagnosis and effective therapies.

The personally harrowing and medically enthralling story of a family's struggle to save a child from a deadly immune deficiency.

If not me, then who will save my child? A mother must confront the unthinkable when her son is diagnosed with a rare medical condition.

This book offers a comprehensive overview of alpha-1 antitrypsin deficiency, an inherited condition that leads to lung disease in adults and liver disease in adults and children and is associated with chronic obstructive lung disease in adults. While it is a rare condition, the mechanisms underlying the clinical manifestations of this deficiency have been largely clarified. Treatment, however, is available only for the lung disease that arises from the condition, thus necessitating continued research into new and alternative therapeutic solutions. The book discusses the biology of alpha-1 antitrypsin, protein misfolding and polymerization, and diagnosis and treatment of alpha-1 antitrypsin deficiency and its associated diseases. It concludes with a discussion of rare disorders linked to alpha-1 antitrypsin deficiency and the role of healthcare organizations in the treatment of these diseases. Written for pulmonary clinicians and scientists, Alpha-1 Antitrypsin: Role in Health and Disease is a valuable resource that sheds light on this rare disease.