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## Meet the editor

Mani T. Valarmathi is currently Director of Research and Development at Religen Inc., a Life Science Company in Pennsylvania, USA. He began his scientific career as a cancer geneticist, but soon became captivated with the emerging and translational fields of stem cell biology, tissue engineering, and regenerative medicine. After obtaining a bachelor's degree in Chemistry from the University of Madras, Chennai, Tamil Nadu, India, he

obtained an MBBS in Medicine and Surgery and MD in Pathology from the same university, as well as a Ph.D. in Medical Biotechnology from All-India Institute of Medical Sciences, New Delhi, India. Over the past two decades, he has had extensive experience in research on various types of stem cells, and his research work has been focused on creating bioengineered human 3D vascularized tissues constructs for implantation purposes. At present, much of his research is directed towards developing innovative molecular genetic testing for precision and genetic medicine. He is a member of many prestigious national and international professional societies and scientific organizations, including the International Society for Stem Cell Research (ISSCR), Tissue Engineering and Regenerative Medicine International Society (TERMIS), American Association for Cancer Research (AACR), American Society for Investigative Pathology (ASIP), American Society for Clinical Pathology (ASCP), American Chemical Society (ACS), European Society of Cardiology (ESC), International Society for Heart Research (ISHR), American Society of Gene & Cell Therapy (ASGCT), and American Heart Association (AHA).

Contents

**Section 1**

**Section 2**

**Section 3**

**Section 4**

**Preface XI**

Rare Diseases Genomics and Precision Medicine **1**

**Chapter 1 3**

Rare Immune System Diseases **9**

**Chapter 2 11**

**Chapter 3 21**

Rare Neoplastic Diseases **35**

**Chapter 4 37**

**Chapter 5 61**

Rare Skin Diseases **87**

**Chapter 6 89**

The Immune System of Mesothelioma Patients: A Window of Opportunity

*by Josefina Piñón Hofbauer, Verena Wally, Christina Guttmann-Gruber,* 

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

Introductory Chapter: Rare Diseases - Ending the Diagnostic Odyssey

and Beginning the Therapeutic Odyssey

*by Mani T. Valarmathi*

Felty's Syndrome *by Vadim Gorodetskiy*

Löfgren's Syndrome

*by Shiyu Wang and Shailendra Singh*

*by Katharina Sterlich and Milen Minkov*

*by Fabio Nicolini and Massimiliano Mazza*

Therapy Development for Epidermolysis Bullosa

for Novel Immunotherapies

*Iris Gratz and Ulrich Koller*

## Contents


#### **Chapter 7 115**

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*

Preface

A rare disease is any disease or condition that affects a small percentage of the population. In the United States alone, more than 7000 rare diseases affect more than thirty million people. Many rare conditions are not only life-threatening or chronically debilitating diseases, but most do not have appropriate treatments, rendering them incurable. As a result, drug, biological, and device development in the case of rare diseases is challenging for many reasons, including the complex biology and the lack of critical understanding of the natural course of many rare diseases. In addition, the inherently fewer population of patients with a rare disease

 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 addition, the advent of various emerging technologies, such as genome editing technology, stem cell technology, and tissue engineering and regenerative medicine, as well the integrated knowledge gained from such studies, enhances our understanding of rare diseases and produces novel insights that could lead to the development and timely deployment of novel clinical and/or therapeutic

In this context, this book consolidates the recent advances in rare disease biology and therapeutics covering a wide spectrum of interrelated topics in a timely fashion. It disseminates this essential knowledge in a comprehensible way to a greater scientific and clinical audience as well as patients, caregivers, and drug and device

Written by leading experts in basic science and clinical care, this book consists of seven chapters over four sections. The first section introduces rare diseases, emphasizing the current challenges and future perspectives within the context of the advancement of genetic and precision medicine. The second section deals with selected rare disease syndromes, such as Felty's syndrome, a rare immune system

The third section discusses rare forms of neoplastic disorders, such as childhood Langerhans cell histiocytosis, inflammatory myeloid neoplasia, and mesothelioma, a rare form of cancer. Eventually, the last section of the book explores rare skin diseases, for instance, epidermolysis bullosa (EB), a group of genetic skin diseases, predominantly focusing on various potential and promising treatment strategies of EB. The concluding chapter highlights the significance of stem cell-based transplant therapy of EB as well as tissue engineering-based skin substitutes that are currently

This book is highly valuable not only for medical and allied health students but also for researchers, clinical and nurse geneticists, genetic counselors, and physician assistants. This quick reference will benefit anyone desiring a thorough knowledge

manufacturers, especially to support rare disease product development.

disease, and Löfgren's syndrome, a rare acute form of sarcoidosis.

available for the treatment of EB lesions.

can also make conducting clinical trials difficult.

interventions.
