**Author details**

Zhan He Wu Western Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW, Australia

\*Address all correspondence to: zhan.wu@health.nsw.gov.au

© 2020 The Author(s). Licensee IntechOpen. This chapter is distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/ by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

*Introductory Chapter: Advances in the Diagnosis and Management of Rare Diseases DOI: http://dx.doi.org/10.5772/intechopen.89388*
