Abstract

Working in the field of human genetics since >20 years the announcement and publication of a discovery of a new candidate gene for a specific genetic disorder is not that unusual to me. In contrary, even though the whole exome of human was announced to be sequenced in 2001 already (1), candidate genes for inborn as well as acquired diseases were not becoming less since that time ( Figure 1 ). Knowing the field, this is not surprising. Even though human genome project (HUGO) told us where genes may be located within the 46 human chromosomes, HUGO per se was never able to tell us what the function of all these genes is. To find out about this, studies in patients are necessary to identify which genes are impaired in connection with which disorder or disease; and such studies need to be followed or accompanied by functional studies.

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