Molecular Genetics of Human Disease

Sixty years on from Crick and Watson’s seminal description of the DNA double helix the study of human genetics has become a central theme of contemporary medicine. Thus, the sequencing of the human genome and the development of high throughput genomic technologies have had a major impact on medical research... read moreand there is increasing awareness that genetic testing will become an important part of the practice of medicine. However, many clinicians, biomedical scientists and health care professionals trained in an era when inherited diseases were considered to be rare, generally incurable disorders of relatively little relevance to everyday medicine. Nevertheless it is clear that knowledge of the molecular genetic basis of inherited diseases is essential not only for those students and trainees aiming to build a career in health care or biomedical research but also for established practitioners and researchers.

This series of lectures provides a series of paradigms to illustrate the importance of understanding the molecular genetic basis of inherited disorders in order to facilitate diagnosis and improve the management of these disorders but also, in many examples, demonstrate the relevance of rare monogenic disorders to more common multifactorial disorders. The topics covered range across age- and organ-based medical specialties in order to demonstrate the wide relevance an understanding of molecular genetics has to contemporary medicine and biology.