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This Discovery Takes Us A Step Closer To Curing Genetic Diseases

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A few months ago, I had a chance to take part in TEDMED as a TEDMED Scholar. The TEDMED event, focuses entirely on the world of health and medicine. The whirlwind week included poignant presentations from researchers, innovators, policymakers and physicians.

Dr. Sam Sternberg was one of a handful of researchers presenting innovative basic science, and his presentation was accessible to scientists and non-scientists alike. His talk discussed CRISPR -- a hot topic lately both for its promise and controversy.

Just last week, the prestigious Gairdner awards honoured advances in this technology. I recently had a chance to chat with Dr. Sternberg about his work and all things CRISPR. His full talk is available here.

This article is the last of a three-part series interviewing engaging speakers from TEDMED -- speakers that aimed to push the envelope in their work, and innovate the world of health and medicine today and into the future.

AK: Thank you for your excellent TEDMED talk. Can you share a bit about what got you interested in genetics and genome engineering?

SS: To be honest, I never originally intended to conduct genetics-related research. When I first arrived at UC Berkeley to start my PhD, I had a more general interest in studying a molecule called ribonucleic acid (RNA), and so was naturally drawn to Dr. Jennifer Doudna's lab.

At the time, CRISPR was a fledgling research topic being researched by just one post-doc and one grad student in the lab. But I was immediately hooked because of the crucial role played by a molecule of RNA, aptly called CRISPR RNA.

As a biochemist, I wanted to figure out how the RNA was produced, what it looked like, how it interacted with proteins, and what it was used for. Soon we learned that the RNA targeted DNA for destruction during viral infections, and that CRISPR could be transplanted into human cells to perform genome editing.

It was clear that this discovery could revolutionize biology. And so, while I continued tackling research questions related to CRISPR biology, my focus increasingly shifted to CRISPR-Cas9 and to genome engineering.

AK: That sounds like quite the journey! Your research is focused on CRISPR-Cas9, can you explain to our readers what CRISPR is, and how its relevance for diagnosis and treatment?

SS: CRISPR -- an acronym that stands for Clustered Regularly Interspaced Short Palindromic Repeats -- refers to bizarre repeating stretches of DNA that are remarkably widespread in bacteria. In 2007, scientists at a yogurt company discovered that CRISPRs endowed milk-fermenting bacteria with a powerful form of viral resistance, by targeting specific viral DNA sequences for destruction.

In 2012, Martin Jinek, a labmate of mine, identified a molecular machine called CRISPR-Cas9 as the crucial DNA-cutting enzyme, and showed that with a few simple tweaks, CRISPR-Cas9 could be programmed to cut virtually any DNA sequence of interest. Moreover, CRISPR-Cas9 could introduce surgical changes to the genome when introduced into human cells.

Soon, the CRISPR craze took off as scientists all around the world adopted the technology to edit DNA in a wide range of plants and animals, to study the functional importance of different genes, provide better models for cancer, and even correct genetic defects associated with genetic diseases.

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[Dr. Sam Sternberg speaking at TEDMED, Palm Springs, California, November 2015. Photo Credit: Jerod Harris]

AK: What are some of the diseases that could effectively be "cured" in our lifetime if CRISPR is widely adopted? How far along are we in clinical trials for these diseases?

SS: CRISPR could theoretically be applied to treat any disease that results from genetic mutation(s). In mice and cultured human cells, it has been applied to target sickle cell anemia, cystic fibrosis, Huntington's disease, beta-thalassemia, fragile X syndrome, severe combined immunodeficiency and many others.

But a lot of work still remains to move CRISPR into the clinic. Editas Medicine, one of the first companies to develop around the CRISPR technology, announced its plans to begin clinical trials using CRISPR in 2017, and two other companies -- CRISPR Therapeutics and Intellia Therapeutics -- are sure to follow closely behind.

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[CRISPR-Cas9. Credit: Dr.Jennifer Doudna, UC Berkeley]

AK: Recently there was an international conference on CRISPR, and much media attention around the ethics of CRISPR. Can you clarify what was actually discussed and specifically the ethics around genome editing?

SS: The international summit on human gene editing was convened to discuss emerging scientific, ethical, and societal questions surrounding genome editing in humans. A major focus was the controversial topic of human germline editing, in which genetic alterations made to eggs, sperm or human embryos would create permanent DNA changes that would be passed on to subsequent generations.

Germline editing became a center of attention in 2015, when Chinese scientists reported the first-ever attempts to modify the genome in human embryos using CRISPR.

There are numerous, justifiable concerns about germline editing, both from an ethical and safety standpoint, which is why a group of scientists, including myself, published an article in early 2015 calling for a pause on germline editing.

In their official statement, the summit's organizing committee stressed the need for continued basic and preclinical research, as well as the pursuance of clinical uses in somatic cells (i.e. not in the germline), while calling for careful risk/benefit analyses.

On the topic of germline editing, the committee stated that any clinical uses would be "irresponsible... unless and until" safety issues are resolved, broad societal consensus is reached, and proper regulatory oversight exists.

AK: There has been a lot of discussion around engaging young people -- specifically young girls -- in STEM (Science, Technology, Engineering and Medicine), but the emphasis has largely been around the technology (e.g. coding) aspect. What are some ways we can get the next generation interested in breakthrough science that could effectively lead to paradigm shifts in medicine?

SS: I think both strong mentorship and in-lab experience are invaluable tools to get students interested in scientific research. There's something about hands-on experience that brings science to life, in a way that textbooks and lectures never will.

The CRISPR breakthrough also serves as an inspiring example of just how exciting and transformative basic academic research can be. Despite starting out as an oddity confined to the bacterial world, CRISPR has become a multi-billion dollar industry in just three years, has been hailed as this century's most influential biotechnology discovery, and offers the promise of curing genetic disease.

CRISPR reminds us of the urgent need to continue following our curiosities and imagination in studying the wonders of nature.

To the specific issue of getting young girls interested in STEM, I think Jennifer, along with her CRISPR-Cas9 collaborator, Emmanuelle Charpentier, serve as fantastic examples of how high one can reach as a female in science.

They've co-founded promising biotech start-ups to apply CRISPR-Cas9 therapeutically and won prestigious awards for their research, all while running their own laboratories and mentoring the next generation of researchers.

AK: In your wildest dreams, where would you like CRISPR-Cas9 to be in five years, 10 years, 20 years? And what are the greatest obstacles (policy, funding, resources, etc.) to getting there?

SS: I believe we'll see a growing number of genetic diseases cured with CRISPR-based therapies. Our basic knowledge of diseases and cancer will continue to grow through research advances with CRISPR-Cas9, paving the way for the discovery of more effective treatments. And CRISPR will enable developments in industrial, agricultural and ecological engineering that may parallel advances in human health and medicine.

There is even talk of applying CRISPR as a way to eliminate mosquitoes and mosquito-borne illnesses like the Zika virus.

Finally, the use of CRISPR-Cas9 to edit the genome of human embryos, for clinical use, seems inevitable. The ethical debate surrounding this issue will only intensify as safety concerns of the technology are addressed, and it will be critical to continue having open, inclusive conversations with all the relevant stakeholders present, to decide how society should proceed.

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