Pam Harrison

October 16, 2016

The potential clinical applications of the CRISPR–Cas9 gene-editing technology will be under scrutiny at the upcoming American Society of Human Genetics (ASHG) 2016 Annual Meeting in Vancouver, British Columbia, Canada.

"There has been a lot of work on CRISPR–Cas9 technology, which has become very useful for teasing out gene function and for determining how specific gene mutations can cause disease," said Anthony Antonellis, PhD, chair of the ASHG program committee.

The technology is now poised to move into clinical genetics, where it can be used to actually correct genetic lesions that cause disease, he explained.

"This brings up a very important discussion point; while this technology is really promising, it's also potentially dangerous. We have quite a few sessions on technological advances in CRISPR–Cas9 and its application," Dr Antonellis told Medscape Medical News.

Dr Anthony Antonellis

"We've tried hard to have the focus of the meeting really be on the most exciting findings in human genetics, and to take that content and arrange it so that it is most effective for the audience," he added.

To that end, early findings from the TOPMed collaborative project, in which scientists are using whole-genome sequencing to unearth the genetic underpinnings of various heart and lung disorders, will be featured during the closing plenary symposium.

In addition, research on the pathways the Zika virus uses to wreak havoc on fetal brain tissue will be presented, as will a clinical sequencing project designed to evaluate how the integration of information from whole-exome sequencing might affect pediatric cancer care, and results from genome-wide association studies done by the International Multiple Sclerosis Genetics Consortium.


While this technology is really promising, it's also potentially dangerous.

The genetic regulatory signatures that underlie islet gene expression and type 2 diabetes will be presented, as will the mechanism by which exome sequencing of dried blood spots from newborns zeros in on a high proportion of metabolic disorders.

There has been a change in the way scientific sessions have been arranged, Dr Antonellis reported. "Historically, we would take an individual topic area, like neurological disease, and we'd organize all of the potential talks in that area into a session," he explained. This year, the program committee decided to zoom out and look at content across topics; they take an individual topic and attack it from different angles.

For example, in the session entitled Friends or Foes? Interactions of the Host and Pathogen, there will be six individual talks — all drawn from different areas. The topic will be discussed from a molecular viewpoint, population genetics, and even an evolutionary angle, he pointed out.

The plethora of concurrent platform sessions is going to tax even the most focused attendee.

"We're a basic science event, but we have a lot of clinicians coming to our meeting because they want to know what the most exciting advances are going to be that will impact their practice in years to come," said Lucia Barker, PhD, who is the scientific program manager.

Clinically oriented talks on topics such as advances in the potential genetic basis of autism, the potential genetic basis of obesity, genome alterations in cancer, the genetic vagaries of craniofacial and ocular malformations, and single-gene cardiovascular disorders are all part of the concurrent platform program.

"One of the challenges in this field is really doing something for patients who have inherited diseases," added Dr Antonellis. To address this, program organizers have included individual talks on promising new directions in novel therapeutics for extremely rare but neglected diseases.

For example, researchers will report how diet can alter the pivotal mutation that leads to N-glycanase 1 (NGLY1) deficiency, a devastating disease, in the common fruit fly.

"This is very early work and there are a lot of technical challenges left to address," said Dr Antonellis. "However, if this work is validated in multiple models, it would be a huge advance for patients and their families."

Being able to tease out complex traits, both computationally and scientifically, is the next big moon shot in genetics.

Researchers are using many innovative approaches to tease out complex traits, and they will be widely featured at the meeting.

"By its very nature, human genetics is a translational pursuit. In my opinion, this is one of the most fascinating things that's happening in human genetics right now," said Dr Barker. In fact, "being able to tease out complex traits, both computationally and scientifically, is the next big moon shot in genetics."

In addition, two separate sessions will be devoted to the exploration of big data, and Dr Barker said she is looking forward to the session looking beyond DNA fingerprinting. Its science-fiction overtones just might usher in a brave new era of crime detection, she pointed out.

Before the official start of the meeting, the keen can participate in the Vancouver Genomics Hackathon, during which digitally adept young people will tackle mind-boggling problems from a computational standpoint.

A symposium on the expanding universe of pharmacogenomics, organized by the Pharmacogenomics Research Network, will run parallel to the ASHG meeting. Those interested in the subject can pursue various aspects of pharmacogenomic discovery and the implementation of pharmacogenomic testing.

"I love speaking to different people from all different backgrounds, the different presentations, and the different ways we present the science to our attendees," Dr Barker said.

Dr Antonellis said he agrees. "ASHG is not just a great place to catch up on basic science and clinical and social issues, it's a great place to catch up with your colleagues."

"I'm excited to get there, sit back, and ask, 'How did we do?'"

Dr Antonellis and Dr Barker have disclosed no relevant financial relationships.


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