• genome
• gene
• chromosome

• HGP, human genome project
• LD, linkage disequilibrium
• SNP, single nucleotide polymorphism

A draft version of the complete human genome sequence was published early in 2001. This was the culmination of both public and privately funded efforts initiated a decade ago. The new landscape of the genome contained several surprises, including the relatively small number of genes, 30–40 000, required to make a human. Attention has now shifted towards annotating the genome by assigning function to all the genes, and characterising human genetic variation manifested as single nucleotide polymorphisms (SNPs). The latter should allow the genetic basis of common disorders with “complex” inheritance to be elucidated.

Ten years ago I wrote a review for this journal entitled “The human genome: a prospect for paediatrics”.¹ In doing so a well known Goldwynism was ignored: “Never make predictions, especially about the future”. From today's perspective the predictions in that article seem, however, rather cautious. The major goals of the Human Genome Project (HGP) which had just been initiated have been attained ahead of schedule and the molecular genetic analysis of rare human diseases continues to generate new biological insights of extraordinary depth. Yet for the paediatrician dealing with the daily round of childhood diseases the impact remains negligible, and it is true that our present knowledge of the human genome resembles a gigantic “parts” list in which at least half of the items have a catalogue number but no assigned function. So how has this project progressed so fast, where do we stand now, and what of the next one or two decades?