The Second Annual GoldLab Symposium brought together a diverse group of presenters for a two day event. According to Larry Gold, the leader of the event and founder and CEO of Somalogic, this year’s event had a dual focus on the various “omics” – genomics, proteomics, transcriptionomics, etc – and on medical infrastructure and healthcare delivery. An early presentation in the seminar was provided by Kevin Davies, author of The $1,000 Genome. Davies discussed the decreasing cost of whole genome sequencing, now available for less than $10,000. As more people may have genetic information in hand, the question becomes how this information can be interpreted and used. As Gold noted in his opening remarks to an increasing degree, there is a belief that “genomics is not the game.” There is wide recognition that few diseases are actually caused by a single, simple mutation but rather many more layers and complexities are involved.
Among the presentation focused on these complexities was that of David Housman, a professor in a joint MIT-Harvard program. Housman discussed the inheritance of Huntington’s and two other conditions: myotonic dystrophy and fragile X Syndrome. While these conditions are genetically inherited, the inheritance is not the simple on-off switch that a basic biology textbook might suggest. In fact, people with these syndromes show repeats of a specific three base pair with condition severity worsening the more this sequence is repeated. Within carrier families, these repeats can increase across generations leading to more severe conditions.
Along with discussing how to understand different conditions, many speakers also discussed the challenges in current efforts at drug discovery and development and opportunities to improve this process. Richard Lawn, formerly of Genentech and now a Professor at Stanford, discussed the development challenges specific to trying to solve the other half of the cholesterol problem. Widely prescribed statins effectively lower LDLs (bad cholesterol) but a medication to effectively raise HDLs (good cholesterol) has remained elusive despite a relatively strong understanding of the pathway through which cholesterol is transported.
Sharon Terry, CEO of Genetic Alliance, spoke of efforts to increase collaboration and idea sharing among researchers focused on the orphan diseases. Research into orphan diseases (defined as conditions affecting <200K people in the US) is important for two reasons. First, many of these diseases are not well managed with current therapies so new treatments are needed. Second, many of these conditions are due to the absence of one particular gene or pathway making those afflicted important “knockout models” to gain a deeper understanding of other conditions.
While offering a variety of science focused presentations, the symposium offered several glimpses into the human side of the conditions being discussed. One of the most moving was provided by Rick Guidotti, a photographer who founded Positive Exposure. Guidotti photographs people with genetic differences showing them in a positive light. Guidotti began his project working with people with albinism but has now worked with people with many rare genetic disorder.
Next year’s symposium will take place on May 25 and 26 and focus on the chronic conditions driving healthcare cost including obesity.
