Open access peer-reviewed Edited Volume

Rare Diseases

Diagnostic and Therapeutic Odyssey

Edited by Mani T. Valarmathi

Religen Inc. | A Life Science Company

A rare disease is any disease or condition that affects a small percentage of the population. Many rare conditions are life-threatening or chronically debilitating, and unfortunately do not have appropriate treatments, rendering them incurable. In recent years, there has been substantial development in the area of rare disease research and its clinical applications, for instance, rare disease biology and genomics, epidemiology and preventions, early detection and screening, and diagnosis and treatment. In this context, 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. Chapters cover such diseases as Felty’s syndrome, Löfgren’s syndrome, mesothelioma, epidermolysis bullosa, and more. This book is a valuable resource not only for medical and allied health students but also for researchers, clinical and nurse geneticists, genetic counselors, and physician assistants.

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Rare DiseasesDiagnostic and Therapeutic OdysseyEdited by Mani T. Valarmathi

Published: September 22nd 2021

DOI: 10.5772/intechopen.92919

ISBN: 978-1-83969-412-7

Print ISBN: 978-1-83962-930-3

eBook (PDF) ISBN: 978-1-83969-413-4

Copyright year: 2021

Books open for chapter submissions

631 Total Chapter Downloads

2 Crossref Citations

2 Dimensions Citations


Open access peer-reviewed

1. Introductory Chapter: Rare Diseases - Ending the Diagnostic Odyssey and Beginning the Therapeutic Odyssey

By Mani T. Valarmathi


Open access peer-reviewed

2. Felty’s Syndrome

By Vadim Gorodetskiy


Open access peer-reviewed

3. Löfgren’s Syndrome

By Shiyu Wang and Shailendra Singh


Open access peer-reviewed

4. Childhood Langerhans Cell Histiocytosis: Epidemiology, Clinical Presentations, Prognostic Factors, and Therapeutic Approaches

By Katharina Sterlich and Milen Minkov


Open access peer-reviewed

5. The Immune System of Mesothelioma Patients: A Window of Opportunity for Novel Immunotherapies

By Fabio Nicolini and Massimiliano Mazza


Open access peer-reviewed

6. Therapy Development for Epidermolysis Bullosa

By Josefina Piñón Hofbauer, Verena Wally, Christina Guttmann-Gruber, Iris Gratz and Ulrich Koller


Open access peer-reviewed

7. Surgical Treatment of Wounds Using Stem Cells in Epidermolysis Bullosa (EB)

By Magdalena Nita, Jacek Pliszczyński, Andrzej Eljaszewicz, Marcin Moniuszko, Tomasz Ołdak, Katarzyna Woźniak, Sławomir Majewski, Cezary Kowalewski, Artur Kamiński, Dariusz Śladowski, Zbigniew Zimek, Maciej Kosieradzki and Piotr Fiedor


Edited Volume and chapters are indexed in

  • Worldcat
  • OpenAIRE
  • Google Scholar
  • AZ ebsco
  • Base
  • CNKI

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