The onset of each new year is frequently marred by overly ambitious and quickly neglected resolutions — an onslaught of new gym memberships, Jenny Craig enrollments, and Kindle purchases that will likely remain unread for years. New Year’s resolutions aside, the beginning of the year is a timely opportunity to reflect on how far we’ve come. The field of scientific research is no exception. 2017 ushered in marvelous contributions in diverse fields in science, from cancer research to climate change to general relativity. Here I hope to briefly discuss a small fraction of the great strides made in research last year. Looking back on how far human knowledge has progressed can provide the impetus to tirelessly endeavor toward our goals for the new year, both scientific and personal.
Gravitational Waves Confirmed
In 1916 Albert Einstein predicted that immense explosions in space would ripple across the fabric of the universe in what he proposed to be gravitational waves. Direct scientific evidence of this phenomenon had been absent until Aug. 17, 2017, when yet another of Einstein’s theories was proved correct. After an 11 billion year courtship in mutual orbit, two neutron stars collided in a spectacular explosion, emitting the gravitational ripples described by Einstein’s theory of general relativity. In addition to the gravitational waves, light from all regions of the electromagnetic spectrum was detected after traveling for 137 million years from this rare cosmologic event. This gargantuan collision also validated other astrophysical models of the universe, including hypotheses on the origins of heavy elements such as gold and platinum.
Contrary to presidential opinion, the World Meteorological Organization ranks 2017 as the third-warmest year on record and the hottest year unaffected by El Niño. This increase in temperature brought with it a surge in tropical cyclone intensity that devastated the Caribbean and U.S.; the month of September had the highest Accumulated Cyclone Energy index in recorded history. Landslides and wildfires ravished California, while soaring temperatures in Europe gave rise to a heat wave drolly named Lucifer. Despite what was undeniably a climatically catastrophic year, there is hope. On Dec. 12, 195 countries agreed to sign The Paris Agreement, the main goal of which is to “strengthen the global response to the threat of climate change.” Among many other initiatives, the participating countries hope to limit temperature increases to 2 degrees Celsius during the rest of the century. It is a shame that the U.S. would not participate in this unprecedented global effort to combat climate change.
Correcting Genetic Disorders with Gene Therapy
Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that is caused by a genetic defect and ultimately leads to loss of motor neurons and to muscle degeneration. The condition is fatal. Infants generally lose their ability to breathe autonomously and most often die by the age of 2. Using a genetic tool commonly used in research, a group from The Ohio State University managed to engineer a benign virus to deliver a functional copy of the malfunctioning gene to infants diagnosed with SMA. All 15 infants treated survived past 20 months, a milestone only reached in 8 percent of cases prior to this study. Those administered a high dose of the gene therapy agent also showed robust improvement in motor skills. While encouraging for SMA patients, this study could also pave the way for more gene therapies targeting other genetic neurodegenerative disorders.
Targeting Cancer Based on Genetics Gets FDA Stamp of Approval
Although DNA mutations often give rise to cancer, their accumulation can also facilitate detection of cancerous cells by the immune system. Increased mutations can lead to expression of cell surface proteins that mark the tumor cell as abnormal or nonself. This concept was shown to be important in colon cancer by a research group led by Luis A. Diaz, M.D., from The Johns Hopkins University in 2015 and was expanded upon in a publication this last year. In the study the group successfully showed that cancer cells with impaired DNA repair machinery tend to also express high levels of an immunosuppressive signal (PD-1) that can be blocked to render these cells susceptible to killing by the immune system. Using synthetic antibodies directed against PD-1, researchers galvanized the immune response to target and kill cancer cells in 12 tumor types. The study’s remarkable success brought forth pembrolizumab, the first FDA-approved drug that treats tumors based on a genetic biomarker and not organ origin. This drug is already being used to treat multiple cancers across the country and will hopefully continue to improve cancer patient outcomes.
We entered this year with Einstein taking us back to school from the grave, along with a more optimistic outlook on cancer, genetic diseases and our planet’s climate. This is only a taste of the impact scientific research can have on human health, global well-being and understanding of the universe. May these great achievements that lie behind us fuel our continued efforts toward scientific discovery and push us to change much more than the climate.
- What other advancements shaped 2017? Read about Johns Hopkins Medicine's 2017 Research Highlights.