The Genome Medicine field has witnessed dramatic changes in recent years that have brought the prospect and promises of personalized medicine closer than ever before. DNA sequencing technologies have dramatically expanded our capacity to sequence genomes, and together with rapidly declining costs, now means that even small laboratories can make use of the technology. Researchers can investigate the cause of a disease starting with the DNA sequence of affected and unaffected family members. Importantly, successful data interpretation, and hence translation of genetic information into something useful requires appropriate expertise, as due to the high variability of the human genome,  extreme caution should be taken to avoid misinterpretation of the potential association of rare variants with disease.

Through large Biobanking efforts, greater and greater numbers of individual participants are helping to provide the power to detect genetic determinants of common disease. Using genome-wide association studies, the identification of large numbers of single nucleotide polymorphisms and copy number variants that influence disease can be determined. We have moved from carrying out these studies on common variants to also being able to look at the rarer variants in large population cohorts, thereby providing a more comprehensive picture.

Genome sequencing has implicated large numbers of genes and mutations as potential disease risk factors. In vitro and in vivo model systems are needed to validate the potential gene associations with pathology. Through new gene editing breakthroughs, such as CRISPR, we can modify DNA to reflect the changes we have identified in order to study their role in development and disease. Excitingly, these new tools are also being translated in clinics to treat patients affected by genetic diseases.

There is no gene for the human spirit
— GATTACA, 1997

some recent highlights of What We've Achieved

  • The causes of congenital muscular dystrophy (CMD) are often unknown, but in collaboration with Dr Chiara Manzini, GWU, we used whole exome sequencing of 5 affected individuals from four families in order to uncover a novel candidate gene (INPP5K) and mutations that cause CMD. AJHG, 2017. [PubMed]
  • By collecting data from over 70,000 individuals from around the world, we compared their genetic makeup and ECG readings of their hearts (which identifies abnormalities in electrical pulse conduction and muscle mass), and discovered up to 67 genes which are important for normal heart function. J Am Coll Cardiol. 2016. [PubMed