Science is often a piecemeal process, progressing slowly through the incremental accumulation of knowledge. In the world of medical science this is particularly evident as small targeted research findings one year may, or may not, lead to massive life-changing new therapies decades later.
It's often hard to see the forest from the trees but if we zoom out a little and look back on the last 12 months it quickly becomes clear there have been some incredible breakthroughs in the world of medical science. Some are academic (finally mapping the complete human genome), and others are the cumulation of years of work (mRNA cancer vaccines reaching advanced human trial stages), but all of these stories are landmark moments that are set to shape the future of medicine.
The big pandemic story – Omicron's convergent evolution
For many people the third year of the pandemic marked a return to some kind of normality following a huge Omicron wave at the beginning of 2022. But we don't decide when the pandemic is over unfortunately, that's up to the virus. And the last 12 months has still seen incredibly high hospitalization and mortality rates as SARS-CoV-2 continues to reinfect hundreds of millions of people for the second, third or fourth time.
Perhaps the most important pandemic story of 2022 was the way SARS-CoV-2 fragmented into dozens of different sub-variants, all converging on similar mutations. The story of how we noticed this was happening and what it means for the future of the pandemic is a strange tale that began when a group of researchers on Twitter started noticing curious patterns in wastewater.
Multiple Sclerosis is triggered by a viral infection
For decades researchers have suspected the neurological disease MS may be triggered by a viral infection but a unique study looking at 10 million US military personnel over a 20-year period offered the most compelling causal evidence to date. The research indicated infection with the Epstein-Barr virus (EBV) is fundamentally linked with the development of MS.
The findings don't mean EBV infection is the sole cause of MS – it's likely a number of genetic and/or environmental factors must be present for a person to be susceptible to the neurodegenerative condition But it seems an EBV infection could be a crucial trigger. And that means, hypothetically, an EBV vaccine could prevent MS from developing in the first place.
Global effort realizes first 100% complete sequence of human genome
The Human Genome Project has been running for decades, famously publishing its first draft in 2000, and a “complete” genome in 2003. But this only included the euchromatic regions, comprising around 92% of the total genome. Now, with an extra two decades of work and technological advancements, the entire human genome of around 3 billion bases has finally been sequenced with no gaps.
In other 2022 genetic study news one of the world's largest and longest-running investigations finally published the fruits of 20 years of labor. All 12,000 genetic variants that influence human height were published after studying DNA from five million people.
Impressive results from "game-changing" mRNA skin cancer vaccine trial
Following the incredible success of mRNA COVID-19 vaccines in 2020, lots of work on the technology quickly shifted to explore its potential to treat cancer. Melanoma, in particular, turned out to be the first major cancer target for the technology, and both big mRNA companies (BioNTech and Moderna) are deep into late-stage human trials.
These results from a Phase 2 trial offer the most advanced insight to date into the efficacy of a mRNA cancer vaccine. The impressive data revealed adding the mRNA therapy to conventional immunotherapy improved patient outcomes by 44%.
First-ever recording of dying human brain reveals dreaming-like activity
While EEG monitoring the brain waves of an 87-year-old man with epilepsy, watching for seizures, the patient suddenly had a heart attack and died. This led the researchers to record 15 minutes of brain activity around the time of death.
They focused in on the 30 seconds either side of when the heart stopped beating, and detected increased activity in types of brain waves known as gamma oscillations. These are involved in processes such as dreaming, meditation and memory retrieval, giving a glimpse into what a person may be experiencing during their final moments.
Fecal transplants finally become an official medicine
Australia's Therapeutic Goods Administration (TGA) was the first in the world to approve a fecal transplant therapy designed to target a serious bacterial infection. The approval went to biotechnology company BiomeBank for its "microbiome-based therapy product" dubbed BIOMICTRA. The therapy is very specifically approved only to treat infections from Clostridioides difficile bacteria, commonly referred to as C. diff.
Not long after the Australian authorization, the US Food and Drug Administration followed with a similar approval. Targeting the same kind of infection the FDA approved a fecal transplant therapy from Ferring Pharmaceuticals for use in the United States.
World-first pig-to-human heart transplant
The patient receiving the transplant was a 57-year-old man with terminal heart disease named David Bennett. Too unwell to qualify for a regular heart transplant, Bennett was offered the experimental treatment as a last resort.
Bennett survived nearly two months with the pig heart before ultimately dying of heart failure. The researchers behind the procedure are still investigating exactly how Bennett died as initial study revealed no traditional signs of organ rejection.
New gene therapies become most expensive drugs in history
The last 12 months became a parade of increasingly expensive gene therapy approvals. First, a one-off gene therapy targeting a rare blood disease was authorized by the FDA and hit the market with a price tag of US$2.8 million. Then, another gene therapy hit the market, this time targeting hemophilia, with a price tag of $3.5 million.
The cost of these one-off curative gene therapies are relative to a lifetime of health care. So pharmaceutical companies claim these one-off gene therapies are ultimately cheaper when compared to treatments costing hundreds of thousands of dollars a year for decades. But questions still remain over how health insurers will accommodate these massive single payments, and whether these multi-million-dollar gene therapies will end up as treatments only for the rich.
Don't worry – Picking your nose doesn't cause Alzheimer's disease
And perhaps the most important piece of medical news this year was our exclusive investigation into the most controversial study of 2022. After headlines blasted reports of research finding picking your nose can cause Alzheimer's disease, New Atlas spoke to several neuroscientists to get the lowdown on this seemingly landmark study.
Turns out we're all OK. It's unlikely a little bit of nasal excavation has anything at all to do with the onset of dementia. But the story behind the story turned out to be a perfect example of how hyperbolic science news can amplify unproven speculations.