Genetic disorders are diseases caused by mutation in gene(s) or due to chromosomal disorder. Although most genetic diseases are rare, but not all rare diseases are caused by genetic disorders. Due to limited information and lack of access to treatment, the management of rare diseases is frequently complicated. Up to December 2020, a total of 470 rare diseases have been registered and recognised by the Ministry of Health, Malaysia. This book highlights some of the genetic disorders and their resulting rare diseases that have been reported in Malaysia, including their prevalence, molecular mechanism and pathogenesis, besides discussing their diagnosis, treatment and prevention methods. The compilation of thirteen chapters is ultimately aimed at stimulating further research endeavours on the related diseases. Besides serving as an important reference to healthcare authorities, planners, policymakers, students, and the public; Genetic Disorders and Rare Diseases: Current Updates significantly contributes to the betterment of patient outcomes.