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Barely a century has passed since Gregor Mendel provided the explanation for inheritance and a foundation for what we now understand as genetics. Looking back it is perhaps even harder to believe that it is only just over 40 years on from Crick and Watson, who with coworkers determined the structure of DNA and cracked the genetic code. Given this comparatively short period of time, progress has been dramatic in all areas of genetics, but particularly so in medicine where we are now in an exponential phase of development and the profession is gradually realising that it is caught up in the spiral of a new genetic revolution.
Until recently medical genetics was relatively circumscribed and mainly concerned with rare monogenic conditions where the disease phenotype was often obvious or dramatic and the mode of inheritance known. Phenomenal recent progress in molecular biology has spawned molecular genetics and a new strain of geneticist interested in common conditions with a complex and polygenic aetiology. These include such conditions as schizophrenia, asthma, hypertension, heart disease, malignancies, and a wide range of autoimmune and arthritic conditions. This enthusiasm has been catalysed by major initiatives such as the Human Genome Project where the objective is to characterise all human DNA in terms of genes and sequence. With parallel advances in information technology such data are readily accessible and high density genetic maps of markers, such as polymorphic microsatellite repeats, are now available for linkage and association studies. Further technological developments have also been occurring at a pace and the methods for both DNA sequencing and the genotyping of DNA polymorphisms have been largely automated leading to a potential for vast throughput of samples and the development of ‘factory genetics’. Many centres world wide have already invested heavily in setting up major research programmes for …
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