I recently attended the Human Genome Meeting (HGM2016) in Houston, TX and wanted to share some of the highlights from the meeting.
The overall focus of the meeting was the application of genomics to medicine, and the presentations were, without exception, excellent. There is no way I can possibly summarize all of the great science that was presented at the meeting, but I’d like to focus on some general themes that emerged. Continue reading
Baltimore Inner Harbor, CCBY Austin Kirk
The American Society of Human Genetics convened for their 65th annual meeting last week in Baltimore. Over 6000 scientists and clinicians, joined by counselors, educators and patients, gathered to present, discuss and debate the latest developments in genetics research. We at Nature Genetics were fortunate enough to be in attendance and we wish to share some thoughts about this exciting and thought-provoking conference.
ASHG 2015 brought together a diverse group of multi-talented scientists whose research has direct impacts on our life and health. Genetics is an established field with a solid pedigree, but rapidly changing technologies are revolutionizing the ways that research is being done. The innovation and acceleration of the work is at an unprecedented scale. This, combined with the ingenuity and tenacity of geneticists, has resulted in exciting new avenues of research that increase our understanding of fundamental elements of biology, health and disease.
There were myriad examples of incredible, cutting-edge research being applied to different areas, including cancer genetics, precision medicine, genetic manipulation, complex trait analysis, bioinformatics and population studies, among other things. Although new technologies bring new challenges, we are very excited to witness such skillful application of modern techniques to problems both old and new.
Precision Medicine Initiative
CCBY Stuart Caie
A near-ubiquitous topic of this meeting was any permutation of precision medicine and how best to bring it to clinical fruition. Director Francis Collins outlined the National Institutes of Health Precision Medicine Initiative, detailing the goals and timelines for this large, ambitious project. Coordination of the collection and analysis of data, coupled with establishing solid protocols for patient consent and data usage, is shaping the way that 21st century health care is administered. From cancer treatment to disease susceptibility, unlocking individualized DNA sequences from many different people will advance not just personalized treatment, but also our understanding of the genetics of various populations on a larger scale.
The promises of personalized genomic medicine are far from realized. Sequencing technologies have allowed for the compilation of incredible amounts of data. However, it is the interpretation of those data that is the most important element in terms of how to be actionable when considering, for example, therapeutic options for cancer treatment. Optimal sequencing parameters, proper variant calling and correct identification of causative mutations all contribute to the “precision” of the medicine and present considerable challenges to clinicians and researchers. This meeting featured many examples of researchers tackling this problem of functional characterization of variants, whether by using predictive, high-throughput or in vivo methods, which will be crucial for the effective usage of clinical genomic data.
CRISPR/Cas9 Honored
CCBY Atos
Emmanuelle Charpentier and Jennifer Doudna are by now scientific-household names. Their pioneering work on the CRISPR/Cas9 genome editing system has profoundly changed the landscape of biological, and particularly genetic, research. Together, they were honored at ASHG with the Gruber Genetics Prize award in recognition of their groundbreaking contributions to genetics research. As a story for how basic research can lead to unexpected and spectacular discoveries, the ingenious application of the bacterial CRISPR/Cas9 anti-viral machinery to precise genome editing in virtually any organism stands out as particularly elegant and practical.
The sheer number of presentations that utilized CRISPR/Cas9 technology in order to create exact mutations in different model organisms or cell lines for functional analysis underscores the widespread impact of this astonishing finding. The influence of genome editing on the field was additionally felt in the realm bioethics, where there were discussions about its responsible use and ethical application, especially as it applies to human genetics. CRISPR/Cas9 has fundamentally changed genetics research and has opened up entire new possibilities for the study and treatment of disease, so it is fitting that Dr. Charpentier and Dr. Doudna were recognized at ASHG.
From Old to New
CCBY Isabel Eyre
This year marks the 150th anniversary of Mendelian genetics. In 1865 Gregor Mendel first made his report on heritable traits; ASHG recognized and celebrated this milestone throughout the conference. Remembering the modest, pea plant origins of the “science of heritability” while listening to reports on the most up-to-date advances in human genetics really highlighted how remarkable this research is and how far it has come. It makes us think about how the field has changed since 50, 10 or even 5 years ago and allows us to apply that metric to the future, and to dream about all the changes that could come in the years and decades ahead.
Sequencing technology, genome editing, gene therapy and personalized medicine are just some of the frontiers that are currently defining the latest genetic and genomic research. These advances in techniques are being accompanied by other changes as well. In his opening symposium address, ASHG president Neil Risch emphasized the society’s strong commitment to increasing its diversity and rewarding mentorship. Examining ways to foster the curiosity and creativity of all researchers will help lead to the next set of groundbreaking innovations that redefine the field.
See You in Vancouver
Based on what we saw at ASHG this year, we are heartened and inspired by all the extraordinary work that is being done and we are truly excited about future of genetics research. We already can’t wait for ASHG 2016!
On November 14, the Junior Faculty at Karolinska Institutet in Stockholm, together with Nature Genetics, hosted a workshop for early-career researchers about mentoring in the sciences. The goal of the workshop was to identify what postdocs and new faculty members wanted from a potential mentor and how the institute could go about establishing a formal mentoring program. The workshop was a direct result of a previous workshop at KI, also co-organized by Nature Genetics. A commentary about that workshop can be found here.
Formal mentoring programs, while rare, do exist at other institutions. For example, one of the day’s speakers, Pam Ohashi, spoke about the mentorship program at the University of Toronto. Professor Ohashi spoke about the need to convince the institute that mentoring is important and will benefit the institute in the long run. In addition, it is important to provide incentives for mentors, such as including mentoring outcomes in annual performance reviews. In a formal mentoring program, an official within the institute or department (such as the department or division chair) will pair mentors and mentees. Together with the mentee, the mentor should outline an implementation plan so that specific goals can be set and progress toward them monitored. Professor Ohashi also emphasized that mentoring needs to be flexible and tailored to the specific individual. Common questions mentors had for mentees, in her experience, were related to personnel management, how to navigate the promotion process, how to write successful grant applications and what expectations should be set for trainees.
We also heard from two previous recipients of the Nature awards for mentorship in science: Barbara Demeneix and Andrew McMichael. Professor Demeneix also emphasized the point that mentoring should be a part of the career assessment for professors. This is because both the institute and mentor benefit from mentoring, not just the mentee. She also noted that mentors should be mindful of particular difficulties faced by women when mentoring young female colleagues. Professor McMichael pointed out that scientists can have many mentors, both formal and informal, throughout their careers, and that networking (such as at conferences) is crucial especially for identifying potential informal mentors. He also made an important point in that mentees have duties to their mentors, not just the other way around. You shouldn’t only contact your mentor when you need something from them.
The need for incentives for mentors was emphasized by nearly all of the speakers. Although, as one speaker noted, mentoring future scientists is an essential part of the scientific system, professors are busy and may see it only as an added burden. What kind of incentives, and how they might be implemented, was a topic of discussion.
Telemachus and Mentor in the Odyssey{credit}Wikipedia{/credit}
Another issue discussed was how to maintain a mentoring program once one was established. There should be a specific person in charge of pairing mentors and mentees and making sure that incoming faculty and postdocs are assigned mentors as early as possible. There was also a general consensus that there should be regular meetings between mentors and mentees and that progress of the relationship should be formally evaluated, though what criteria should be used for evaluation was an open question.
Finally, many junior faculty members noted that the number one thing they wanted from a mentor (in addition to general career advice) was access to the mentor’s network. For example, young faculty may not know who is the best person to contact for help with a specific problem, but the mentor (a more established faculty member) will likely be able to point to the right contacts.
Based on the information from the speakers and feedback from participants and department officials present at the workshop, the Junior Faculty will likely implement a pilot program to determine the best model for an institute-wide mentoring program.
Mentorship can be an important part of each stage of an academic career, and we applaud the Junior Faculty for taking this first step toward a formal mentorship program at KI. We look forward to hearing the feedback from the workshop and seeing how the program unfolds.
View from the Resort at Squaw Creek. Not a bad place for a conference!{credit}Brooke LaFlamme{/credit}
I recently attended the joint Keystone Symposium “Stem Cells & Reprogramming” and “Engineering Cell Fate & Function” at the beautiful Resort at Squaw Creek. In addition to gorgeous weather, there was an amazing lineup of talks demonstrating the power and promise of stem cells and cell/tissue engineering. Here are just a few of the highlights from the meetings:
Keynote: Optogenetics
Karl Deisseroth from Stanford University kicked off the joint meeting with an overview of his lab’s research in optogenetics and how they’ve used the technology both to control and map neuronal networks in live animals or intact tissues. The Deisseroth lab has used optogenetics to better understand the neuronal architecture and genetic structure underlying complex behaviors, such as those associated with anxiety. In his talk, Prof. Deisseroth outlined how they are using optogenetic tools to target neuronal wiring using Boolean-like genetic systems to identify neurons expressing specific combinations of markers.
The second part of his talk focused on CLARITY, a method developed in the Deisseroth lab to allow for 3D imaging of neurons in intact tissues or whole brains. You can see some of the amazing videos generated with this technique here.
To learn more, you can find a list of Deisseroth lab publications here.
Stem cells and reprogramming in human disease modeling and treatment
There were a ton of talks (and posters) demonstrating the utility of stem cells and directed differentiation for human disease modeling and treatment development. I’ll only mention a few here, but all the talks were excellent. Continue reading