When I was at Pfizer, I worked with colleagues at NHGRI and FNIH to form the Genetic Association Information Network (GAIN) — a public-private partnership that encourages industry and academic collaboration to better understand the genetic basis of common disease.

At the final GAIN analysis workshop earlier this month, we were given the chance to review data generated over the last two years, including disease studies of psoriasis, depression, schizophrenia, diabetic nephropathy, and bipolar disorder. It was exciting to see that each study identified important regions of the genome associated with these diseases. Unfortunately we also learned that neuropsychiatric diseases remain a challenge as the search for genetic variation and diseases is hampered by the complexity of the phenotypes involved, as well as the apparent diversity in genes which contribute to the diseases.

Following the workshop, I spent several days with my Helicos colleagues at the American Society of Human Genetics (ASHG) annual meeting, which brought together over 5,000 scientists from across the globe. The event has come a long way from ten years ago when a major focus of this important meeting was rare genetic diseases. Now, we have seen the foundation of these rare disease studies applied to the study of more common diseases, as evidenced by work in GAIN.

Many studies, including cardiovascular disease, diabetes, and inflammatory diseases, were presented at the whole genome level, revealing new insight into genes or gene regions involved in these diseases. Still though, these studies involve the investigation of the common alleles which appear at relatively high frequencies in the population. As we continue to study the human genome, we are recognizing the amazing heterogeneity contained within our genomes. It was this new knowledge that drew me to my current role at Helicos BioSciences.

Three human genomes were also presented (AML patient, Craig Venter and an Asian individual), highlighting again that the genome contains many more single nucleotide variants than expected. In addition, new knowledge on structural variation underscores the importance of insertions and deletions as well as copy number variations within each genome.

Equally exciting are the emerging technologies to allow an assessment of the human genome – including Helicos’ Single Molecule Sequencing. At the meeting, Helicos presented data on our collaboration with City of Hope, an NCI-designated Comprehensive Cancer Center, investigating genetic variation in the p53 gene and identifying a variety of mutations in the gene.

Meetings like these are what fuel my passion of improving human health through our growing knowledge of the genome, and I welcome those of you who attended with me to share your key takeaways.

This entry was posted on Tuesday, November 25th, 2008 at 10:33 am and is filed under Innovation, Technology. You can follow any responses to this entry through the RSS 2.0 feed. You can leave a response, or trackback from your own site.