title: The genetics of epilepsy--the past, the present and future.
abstract: A BRIEF HISTORY OF HUMAN GENETICS: Sixty years is an appropriate yardstick for many reasons, not least for the remarkable advances in medicine, public health, psychology and biological disciplines. Particularly relevant is the approaching 60th anniversary of the discovery of the structure of DNA, which unlocked the driving force of nature and spawned a plethora of scientific discoveries and economic development through the Bitoech industry. Prior to 1953, and before Watson and Crick burst into the Cambridge pub with their eureka moment, it was known that chromosomes were important, the first principles of clinical cytogenetics were emerging and the rules of heritable traits were well-advanced, but without the basic framework or mechanism. Human Molecular Genetics arrived when the first mutations were linked to human disorders reflecting the advances in understanding the genetic code, assembly of protein building blocks and methodological advances in reading the physical code (all be it very difficult process at the time). Accelerated by the introduction of recombinant gene technology in the 1980s, and in conjunction with the development of linked genetic marker maps, the catalogue of genes associated with disease has risen exponentially with classical examples such as sickle cell disease, cystic fibrosis and Huntington's disease. The advances approached super-sonic dimensions when genes were found in Mendelian families, and mapping strategies were adopted using the variation map of the human genome (SNP's, di-nucleotide repeats), in addition to targeted candidate gene approaches aided by the significant database resources available to investigators. Super-sonic gave way to light-speed with the publication of the 3 billion letters of the genetic code which constitutes the human genome, followed quickly by genomes in plants, bacteria, pathogens, fruits and vegetables, and a menagerie of eukaryotic and prokaryotic animals, often representing model systems for genomic and pathophysiological research. In short don't blink or you'll miss the next revolution - too late, it's just happened!
authors.affiliation: Neurology Research Group, Institute of Life Science, School of Medicine, Swansea University, Singleton Park, Swansea SA2 8PP, UK. m.i.rees@swansea.ac.uk
authors.forename: Mark I
authors.initials: MI
authors.lastname: Rees
mesh_terms: D000818:Animals; D004827:Epilepsy / Q000235:genetics*; D006801:Humans