Gaby’s Top 5 Science moments 2016

Featured, Health, Science, Technology 2017-01-06

This year for my top 5 science moments, I have taken a different tactic to past yearly reviews. I have resisted the temptations to choose a discovery from each discipline of science for the sake of balance and, instead, have included the stories that spoke to me. So, if you are looking for a wide-reaching view of the science of 2016, then this may not be for you. But if you are interested in the science discoveries that captured the imaginations and hopes of this geneticist then grab a cuppa. Here is my top 5 moments from 2016.

5. Pocket-sized DNA sequencer

The ability to sequence a genome and read the code to life is arguably one of the greatest breakthroughs in the history of modern science. However, the hardware involved is normally at least the size of a microwave oven and can be very fragile. This year, a biotechnology company made a significant breakthrough with a sequencing machine, the MinION. This sequencer is only 86 grams and is small enough to be forgotten in a pocket! This year however, it was proven to be not only functional but has also been shown to work in microgravity.

In June this year the MinION was sent to the International Space Station to be tested on board. The future holds great things for this technology and space exploration. In theory, the crew could use it to quickly identify the precise cause of any illness to ensure that it is treated effectively. This type of diagnosis is imperative for future missions to Mars and beyond when there is no possibility to restock the limited supply of antibiotics.

However, it is not only for space travel that this development will be useful. Reducing DNA sequencing to a small size means it could be combined with other technologies to allow patients to monitor levels of certain DNA sequences at home. In theory, cancer patients could track the progress of their disease by the level of fusion chromosomes and HIV patients could monitor viral levels as easily as diabetics can monitor their blood sugar.

Whatever the future uses are, the pocket-sized DNA sequencing technology opens new doors for genomics, therapeutics and disease management.

4. Promising results from stem cell treatments for stroke

Stroke research, especially developing therapies, is a complex field that is subject to many challenges. For a long time, the industry belief was that the most effective treatment for stroke would be one that can be administered to patients as soon as possible after the fact, even in the back of an ambulance.

However, new research from Stanford University has broken new ground with a treatment that can be administered 3 years after a stroke. Adult mesenchymal stem cells were injected into the brain of volunteer stroke victims between 6 months and 3 years after the stroke had occurred. Normally, after 6 months doctors would expect no future improvement to occur. However, after the procedure, one patient regained movement in her right arm and right leg even after being confined to a wheelchair for the previous few years.

Mesenchymal stem cells have interesting therapeutic potential as they have been shown to repress the immune system which may have contributed to the high success rate and low number of side effects observed in this trial.

Whatever the theory and the reason behind the success, this trial has paved the way for more successful therapies for stroke victims and has given hope to those that currently live with a disability as a result.

3. Progress in the field of human CRISPR research

2015 was undoubtedly the year of gene editing. As Science’s breakthrough of the year and with multiple advances, it was the beginning of the gene editing revolution. As a result, this year was expected to be when all of that research and progress was finally applied and the true value of CRISPR was revealed. It did not disappoint.

2016 saw the first human trial in China using CRISPR-Cas9 in an experimental therapy for a patient with advanced lung cancer. In this trial, CRISPR was targeted to PD-1 in the targeted cells, which aimed to induce cell death and halt the growth of the cancer.

Equally notable progress was made closer to home in the USA with the start of a safety test of CRISPR for human use. The safety test is administering CRISPR to 18 patients with various cancers but will not be assessed for efficacy. The completion of this safety screen should allow the development of CRISPR therapeutics in the USA and encourage investment into applying CRISPR to proven gene editing based therapies. Such proven techniques include the removal of rejection genes with TALENS by Great Ormond Street Hospital or the addition of HIV resistance genes to patients using techniques done with ZFNs.

The approval of these trials is a big moment for gene editing based therapeutics. After the death of Jesse Gelsinger in 1999, the industry is understandably cautious surrounding these techniques. However, recent developments, improvements and precautions for conflict-of-interest all contribute to making CRISPR-based therapeutics that little bit closer.

2. The continued race for a Zika vaccine

Two years ago, the first reports began to surface about the outbreaks of microcephaly in South America. Quickly, research abounded into the detection of the cause and the Zika virus made headlines worldwide. Reminiscent of the Ebola outbreak, a known virus became more dangerous and was posing a real threat to millions of people.

The response was instant. Never before have so many corporations, research groups and academics reacted so quickly to develop a vaccine for an outbreak. Some vaccines are on track to finish development in a remarkable and record-breaking 2-year turnaround. Lessons have obviously been learned from the Ebola outbreak and teams are reacting quickly to not miss the critical window for a vaccine.

Many have taken the opportunity of the outbreak to develop innovative vaccine technologies. One such technique involves administering spliced viral DNA. The DNA enters the nuclei of cells and is synthesized into partial viral particles. Antibodies can then be created in response so the body is prepared for a future infection. To improve the vaccine, some manufacturers are using RNA as a more flexible alternative to enter the nucleus.

The development of the Zika vaccines has made it into my top 5, not only because new and innovative techniques are being used. The response by the science industry has given me a lot of hope for the future of science. In the face of the crisis, the industry has shown how teams from across the world can work together to create solutions.

1. Discovery of a key moment in evolutionary history

Few moments in evolutionary history can be argued to be as impactful as the point where life transitioned from single-celled amoeba to complex multicellular organisms. The ability to form a multicellular organism is the point at which life, as we know it, became possible. This year it was revealed that this breakthrough in evolution might have been the result of a single mutation and the consequence of simple dumb luck.

For the formation of multicellular organisms, communication between cells is imperative and a failure to communicate, can lead to cancer, developmental abnormalities and death. Researchers found that, approximately one billion years ago, a single mutation occurred in the gene GK-PID.

This mutation allowed the protein to orient the divisional direction of cells by dictating the position of the mitotic spindle in the cell. However this mutation has an intriguing history when you consider how it functions. The mutation gave GK-PID the ability to link an anchor in the cell membrane to the mitotic spindle. The intriguing point is that, at the time of GK-PID’s mutation, the anchor had not yet evolved!
The reason that this discovery is my number 1 of the year is simple. As a geneticist, I enjoy how this discovery reveals the seldom-admitted secret of biology. Life as we know it, and the key moments of evolution, all came down to plain, old, boring, dumb luck!

So, which of my top 5 got you excited about what science has to offer in 2017? Do you agree with my list? Is there something missing?

Let me know on Twitter @GabyAtNotch