What does it mean to be healthy? This is an important question for the numerous laboratories and hospitals worldwide who dedicate their livelihoods to defeating disease. Thanks to breakthroughs in biotechnology, researchers are starting to develop a more thorough profile of health – and to realize how different it can be from person to person. “We should all go get our 'healthy' profiles now before we get sick,” insists Michael Snyder, PhD, professor and chair of Stanford’s Department of Genetics.
Understanding what health means at an individual, molecular, and systematic level was the focus of the recent Personalised Health Conference at the European Molecular Biology Laboratory (EMBL) in Heidelberg, Germany. Notably, the conference served as the kickoff event for the EMBL-Stanford Life Science Alliance and was the first of many anticipated joint conferences. In a preview of the interdisciplinary collaborations the alliance will enable, the four-day conference brought together international experts in genomics, healthcare, bioethics, bioinformatics, cancer, and more.
“The technologies now at our disposal are ushering in a change in the state of medicine, from reactive to proactive, from treating disease to maintaining health,” said Lars Steinmetz, PhD, the conference’s main organizer, in his opening remarks. Steinmetz is spearheading the EMBL-Stanford Life Science Alliance, inspired by his dual affiliation: At Stanford, he is co-director of the Stanford Genome Technology Center (SGTC); at EMBL, he is associate head of the Genome Biology Unit.
The conference was kicked off with a keynote lecture from Leroy Hood, MD, PhD, president and co-founder of the Institute for Systems Biology, who is widely known as the father of personalized medicine. In addition to his vision for systems medicine, Hood presented the 100K Wellness Project, a longitudinal, multiparametric study that generates “dynamical data clouds” for 100,000 healthy individuals.
“By studying the earliest wellness to disease transitions, we aim to enable the earliest reversal of disease back to wellness,” said Hood. “Understanding wellness will allow individuals to reach their full health potential. I predict that a major scientific wellness industry will emerge to play a dominant role in the democratization of health care.”
Hood’s vision was supported by several research efforts presented at the conference. Snyder’s integrative personal omics profiling (iPOP) protocol here at Stanford now measures billions of molecular parameters in several individuals over time, in efforts to develop predictive models of disease that integrate genomic, molecular, environmental, and physiological datasets. Genomics England’s Tim Hubbard, PhD, presented the United Kingdom’s 100,000 Genomes Project, which aims to leverage genome sequence data in the treatment of 100,000 people in the national healthcare system with unmet clinical needs. As the largest national project of its kind, it will help to establish principles and frameworks for incorporating genomics into standard clinical care.
Sometimes patients and families have to take things into their own hands, however. Matt Wilsey, a Silicon Valley entrepreneur, told the story of his career transition to ‘rare disease hunter’ triggered by his daughter’s NGLY1 deficiency, a pediatric disorder characterized by severe global developmental delay, liver disease, dry eyes, and seizure-like activity. In response to the lack of medical knowledge on his daughter’s genetic diagnosis, Wilsey established the Grace Wilsey Foundation and assembled an international research consortium of “A+ talent.” Several Stanford labs are involved, including ones led by Snyder and Steinmetz. The team’s goal: identify testable therapeutics for NGLY1 deficiency within 5 years. Through these efforts, Wilsey aims to establish a new model for disease research that allows greater access to the science for patients and families, brings together multiple specialists, and works in an efficient and structured way. Wilsey encourages risky thinking à la Silicon Valley.
“We’re not focused on any one solution. It’s really important to keep an open mind,” he emphasized. “The best ideas often come from the least expected places. The treatment or cure could come from anywhere.’”
The EMBL-Stanford Life Science Alliance kickoff session was live streamed to Stanford, featuring Dean Lloyd Minor, MD and EMBL Director General Iain Mattaj, PhD. Steinmetz also highlighted areas of complementarity between EMBL and Stanford, including genomics, biological imaging, computation, and structural biology; such complementarity has already led to more than 60 joint publications since 2012. The Life Science Alliance aims to foster collaborations in these areas through joint conferences, mutual access to facilities, and staff exchanges.
Steinmetz closed out the conference by referring to his earlier presentation on the key role of technology development in the realization of personalized health - and to the work the SGTC is doing in this area. He presented a magnetic levitation platform that effectively separates different cell types (e.g., cancer cells from blood cells) in real time, and a wearable device that quantifies metabolites and electrolytes in sweat (e.g., to detect the onset of dehydration). “Technology is key for driving biology forward and vice versa,” he pointed out. “This is an incredibly exciting time to be in genomics, and to start seeing all of this research translate into improved health.”
Previously: New Yorker story highlights NGLY1 research
Photo of Lars Steinmetz by Chenchen Zhu; photo of Matt Wilsey (green shirt), his father, Mike Wilsey (to Matt's right) and other conference participants, by Matt Wilsey