When Watson and Crick proposed the double helix model for DNA structure in
a 2 page Nature article in 1953, no one could have predicted the enormous i
mpact this finding would have on the study of human disease. Over the last
decade in particular, major advances have been made in our understanding of
both normal biological processes and basic molecular mechanisms underlying
a variety of medical diseases. Knowledge obtained from basic cellular, mol
ecular and genetic studies has enabled the development of strategies for th
e modification, prevention and potential cure of human diseases. This brief
overview focuses on the enormous impact molecular studies have had on vari
ous aspects of medicine. The inherited cardiac disorder hypertrophic cardio
myopathy is used here as a model to illustrate how molecular studies have n
ot only redefined 'gold standards' for diagnosis, but have also influenced
management approaches, increased our understanding of fundamental disease-c
ausing mechanisms and identified potential targets for therapeutic interven
tion. The near-completion of the Human Genome Project, which identifies the
3.2 billion base pairs that comprise the human genome (the so-called 'Book
of Life'), has exponentially heightened the focus on the importance of mol
ecular studies and how such studies will impact on various aspects of medic
ine in the 21st century.