Preface

**Chapter 7 115**

Surgical Treatment of Wounds Using Stem Cells in Epidermolysis

*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* 

Bullosa (EB)

*and Piotr Fiedor*

**II**

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 can also make conducting clinical trials difficult.

 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 interventions.

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 manufacturers, especially to support rare disease product development.

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

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 available for the treatment of EB lesions.

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

pertaining to recent advances in rare diseases and their associated diagnostic and therapeutic challenges.

I would like to thank the team at IntechOpen, including Author Service Manager Mia Vulovic and Commissioning Editors Anja Filipovic and Ana Simic, for providing excellent support throughout the preparation of this book; they were remarkably patient. Finally, I dedicate this to my best friend Dr. Abhilasha Gupta and her daughter Ananya Gupta, a voracious reader and budding scientist who always puts a smile on my face.

**Mani T. Valarmathi, MD, Ph.D.**

Section 1

Rare Diseases Genomics and

Precision Medicine

Clinical Molecular Diagnostic Laboratory, Religen Inc. | A Life Science Company, Plymouth Meeting, Pennsylvania, USA

Section 1
