The majority of rare diseases affect children, most of whom have an underlying genetic
cause for their condition. However, making a molecular diagnosis with current technologies …

The past 5 years have seen an unprecedented rate of discovery of genes that cause rare
diseases and with it a commensurate increase in the number of diagnosable but …

Public health relies on technologies to produce and analyse data, as well as effectively
develop and implement policies and practices. An example is the public health practice of …

Patients with an inborn error of metabolism (IEM) are deficient of an enzyme involved in
metabolism, and as a consequence metabolism reprograms itself to reach a new steady …