Open access peer-reviewed Edited Volume

Rare Diseases

Zhan He Wu

University of Sydney


Chromosomal Abnormalities DNA Repair Defects Genetic Immunological Disorders Hereditary Disease Multifactorial Abnormalities Development Retardation Genetic Metabolic Disorders Infertility Genome Instability Inherited Syndromes Inherited Anemia Genetic Hematopoietic Disorders and Malignancies

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About the book

A rare disease also referred to as an orphan disease, is a disease affecting a low percentage of the population. It is estimated there are about 300 million people worldwide are affected by Rare disease. Most Rare diseases are genetically based, presented in early life, with chronic phase but frequently progressive, disabling and life-threatening. About 30% of suffered children will die at five years old.
Although there are some definitions about Rare diseases based on the number of people living with disease including several factors such as the existence of adequate treatments or the severity of the disease, unfortunately, there is no single, widely accepted definition for Rare diseases up to now. Evidences and facts from the accumulated indicate that Rare diseases are not uncommon. The most accepted definition is no disease is Rare when it affects someone you love.
The studies on Rare diseases are the hallmark of a genetic era in medicine from clinical symptomatic to pathological aetiology phase. About 7000 Rare diseases have been so far identified for the determination of their molecular aetiology.
Knowledge and experience obtained from the studies on Rare diseases not only increased our understanding of the correlations between phenotype and genotype but also have been enlightening the other areas particularly in personalized medicine in the translating into therapies.

Publishing process

Book initiated and editor appointed

Date completed: August 16th 2019

Applications to edit the book are assessed and a suitable editor is selected, at which point the process begins.

Chapter proposals submitted and reviewed

Deadline for chapter proposals: September 6th 2019

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Deadline for full chapters: November 5th 2019

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Full chapters peer reviewed

Review results due: January 24th 2020

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Expected publication date: March 24th 2020

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About the editor

Zhan He Wu

University of Sydney

Dr. Zhan He Wu graduated from Harbin Medical University, China, and received his Master’s degree in 1985 from the same university. He received his PhD degree in 1993 from the University of New South Wales, Australia. Since 1996, he has been working in the field of human genetic disease studies in the Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children’s Hospital Westmead, Affiliated to the University of Sydney, mainly on hematological malignancies such as leukemia and lymphoma, and inherited bone marrow failure syndromes, including Fanconi anemia (it is named as the prone cancer syndrome and paradigm for cancer and aging research). Dr. Zhan He Wu has published more than 60 original articles, more than 60 scientific conference presentations, and five chapters in books. He was granted as a Founding Fellow of Royal College of Pathologist for Australasia in 2011. In the past he has organized many national scientific conferences. He was invited as the Chair for the Euro-Global Conference on Pediatrics and Neonatology 2018, 13–15, SEP, ROME, and delivered the welcome message as well. He has been involved in medical journal reviewing and editing and invited by nine international journals as reviewer, associate editor, guest editor, editor, column chair, and so on. Currently, he is editing two professional books in English for a UK publisher: Germline Mutations Associated Leukemia and Rare Diseases.

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