11 Developments and Discoveries in Human Biology and Medicine Over the Past Ten Years
Since the completion of the groundbreaking Human Genome Project, massive strides have been made in our understanding of biology, science, and the human body. Many developments have been made on the genetic or cellular level that could have enormous applications for the future.
From 3D printing new organs using stem cells to customizing drug therapies for patients to potentially making human cells virus proof, the last decade has already born significant fruit. As the science improves and our understanding grows, the next decade or decades could completely change healthcare forever.
The following 11 are far from exhaustive and are in no particular order.
1. 3D Printing of Organs Could Make Organ Donation Obsolete
One massive development in human biology involves the use of 3D printers and human stem cells.
3D printing is developing to such a level that it can print basic replacement parts for human beings. Recent developments from institutions like the University of Bristol include the use of new kind of bio-ink that might allow the production of complex human tissues for surgical implants in the not so distant future.
The bio-ink is made from a couple of different polymer-based ingredients. One is derived from seaweed and is, therefore, a natural polymer.
The second and last is a sacrificial synthetic polymer. Each one of these polymers provides a different role in the bio-ink. The synthetic component allows for the bio-ink to solidify under the right conditions whilst the former adds extra structural support.
The idea behind this ink is to provide a means of being able to 3D print a structure that can remain durable when immersed in nutrients and not damage any introduced cells to the structure.
Osteoblasts (stem cells that make bone) and chondrocytes (stem cells that help make cartilage) can then be introduced into the 3D printed polymer structure in the presence of nutrient-rich environment to create the final 'synthetic' new organ/structure.
This process once developed fully, could be used to print patients tissues using their very own stem cells in the future.
Other developments include printing kidneys and the potential for printing skin for treating burns. Might this also be the key to immortality?
2. Specific Drug Targeting Could Lead to the End of Cancer
Many offshoot areas of research have been made possible since the start of the human genome over 25 years ago. One hugely important development could be the production of genetically tailored drugs - sometimes referred to as pharmacogenetics.
This could potentially involve creating targeted drugs for treating cancer rather than using the more general 'one-size-fits-all' alternatives like chemotherapy. There are already companies, like Foundation Medicine, that provide DNA screening for cancer cells in biopsy samples.
Their analysis provides a report detailing the genes in the patient's DNA that are known to be linked to cancer and provide information on "actionable" mutations. These actionable sequences of DNA are areas where existing anticancer drugs either exist or are undergoing testing.
Such reports would be able to steer doctors and patients towards prescribing specific drugs to treat the patient's particular form of cancer.
The future efficacy of this kind of treatment could yield enormous future discoveries into the human genome and, just perhaps, guarantee cancer treatment success.
3. Scaring Could Be Prevented By Converting Cells From One Form to Another
Early last year it was announced that researchers may have made a huge breakthrough in healing wounds. They may have found a way of 'hacking' tissue within the wound to regenerate skin without leaving scar tissue.
Doctors from the Perelman School of Medicine, University of Pennsylvania, the Plikus Laboratory for Developmental and Regenerative Biology at the University of California, Irvine collaborated for years and finally published their findings in January of 2017.
They found a method to converting myofibroblasts (a common healing cell in wounds) to fat cells - this was once thought impossible. Whilst myofibroblasts are essential for healing, they are also a critical element in the formation of scar tissue.
Scars are usually formed, in part, due to a loss of subcutaneous fat cells called adipocytes. If then the myofibroblasts could in some way be converted into fat cells, scaring would be less pronounced if visible at all.
George Cotsarelis, the principal investigator of the project and chair of the Department of Dermatology and the Milton Bixler Hartzell Professor of Dermatology at Penn explains:- "Essentially, we can manipulate wound healing so that it leads to skin regeneration rather than scarring."
"The secret is to regenerate hair follicles first. After that, the fat will regenerate in response to the signals from those follicles." - George continued.
The signals, they found, appeared to be a special type of protein called Bone Morphogenetic Protein (BMP).
"Typically, myofibroblasts were thought to be incapable of becoming a different type of cell," Cotsarelis said. "But our work shows we have the ability to influence these cells, and that they can be efficiently and stably converted into adipocytes." - explained George.
This research can have other applications for diseases as well as slowing down the aging process - specifically preventing wrinkle formation.
4. Mitochondrial DNA 'Spring Cleaning' Could Prevent Aging
Researchers recently discovered a method to manipulate the DNA of aging cells in the human body. The scientists from Caltech and UCLA were able to produce a technique to tinker with the power plants of the cell - mitochondria.
Aging in the human body is a consequence, in part, of a compilation of copying errors in our DNA over time. This poor DNA copying leads to telomere shortening and other mutations.
Mitochondria are some of the worst culprits for this in the human cell - although mitochondrial DNA (abb. mtDNA) is separate to that from the main nucleus of the cell.
Each cell contains hundreds of mitochondria and each mitochondrion carries their own packet of mtDNA. mtDNA will tend to build up in the cell over time and falls broadly into two types; normal mtDNA and mutant mtDNA.
When the latter builds up to a certain concentration in the cell, it ceases to function properly and dies.
"We know that increased rates of mtDNA mutation cause premature aging," explained Bruce Hay, Caltech professor of biology and biological engineering. "This, coupled with the fact that mutant mtDNA accumulates in key tissues such as neurons and muscle that lose function as we age, suggests that if we could reduce the amount of mutant mtDNA, we could slow or reverse important aspects of aging."
The team was able to find a way of removing mutated mtDNA from the mitochondria completely, thus staving off the issues created by accumulated levels of mtDNA in the cell.
Mutant mtDNA has also been linked to degenerative diseases like Alzheimer's, age-related muscle loss, and Parkinson's. Inherited mtDNA could also be a contributing factor to the development of autism.
5. The Human Body's 79th Organ Was Discovered in 2017
At the beginning of 2017, scientists officially added a new organ to Gray's Anatomy. The organ was, literally, hidden in plain sight for centuries.
The new organ, called the Mesentery is now officially the human body's 79th organ. The organs name translates to “in the middle of the intestines" and is a double fold in the peritoneum (or lining to the abdominal cavity) that attaches the intestines to the abdominal wall.
The Mesentery was originally thought it to be a fragmented structure which was part of the digestive system. However, they discovered that it is one continuous organ.
It was first identified by J. Calvin Coffey (Professor at the University of Limerick) who published his findings in The Lancet shortly after. As exciting as this development is, the new organ's function is still something of a mystery.
"When we approach it like every other organ… we can categorize abdominal disease in terms of this organ," explained Coffey.
“We have established anatomy and the structure. The next step is the function,” Coffey expanded. “If you understand the function you can identify abnormal function, and then you have the disease. Put them all together and you have the field of mesenteric science…the basis for a whole new area of science.”
With it now classified as an official organ, it is up to researchers to begin to investigate its actual role in the body. As more understanding is gained on this, it could lead to less invasive surgeries being performed by surgeons.
This could reduce complications, accelerate the recovery period and even reduce costs.
6. Researchers Found a New Type of Brain Cell
Earlier this year researchers released a report in "Current Biology" that the human medial temporal lobe (MTL) contains a new type of cell never seen before in humans - called target cells.
The team led by Shuo Wang, Assistant Professor of Chemical and Biomedical Engineering at West Virginia University, discovered the new cells whilst conducting observations on epilepsy patients. They were able to record eye movements and single neuron activity in the MTL and medial front cortexes of patients.
“During [a] goal-directed visual search, these target cells signal whether the currently fixated item is the target of the current search,” Wang explained. “This target signal was behaviorally relevant because it predicted whether a subject detected or missed a fixated target, i.e. failed to abort the search."
Their findings showed that these cells 'cared' little for the content of the target. They only seemed to 'focus' on whether they were a target to search for or not.
“This type of response is fundamentally different from that observed in upstream areas to the MTL, i.e. the inferior temporal cortex, where cells are visually tuned and are only modulated by target presence or absence on top of this visual tuning,” Wang said. “The discovery of this novel type of cell in the MTL, in humans, shows direct evidence for a specific top-down goal-relevance signal in the MTL.”
7. Complete Genomic Sequencing Could Become Routine
Routine genomic sequencing as part of routine clinical care might become standard practice in the not so distant future. In 2011, researchers at the Medical College of Wisconsin had taken steps to pioneer a whole-genome sequencing process that they hoped to make standard practice.
It was targeted at testing children for rare inherited disorders that are very difficult to diagnose using more traditional methods. This type of diagnostic tool had already come a long way since the completion of the groundbreaking human genome project.
Costs to sequence a patient's entire genome now costs about the same as sequencing just a few genes via commercial diagnostic testing. Back in 2011, it had already begun to reap benefits by being able to pinpoint specific genetic mutations underlying a set of rare and difficult to diagnose diseases.
In some cases, it was also able to provide life-saving treatments.
Of course, sequencing the entirety of someone's DNA is the easy part - the hard part is figuring out what the sequence means. The team developed their own software to trawl the sequence and flag any mutation of interest and search genetic databases for matches.
The team caused a stir in December of 2010 when they were able to identify the cause of a child's poor health after 100 surgical procedures and three years of treatment failed to. It turned out that there was a mutation on the boys X chromosome that was linked to an interest immune disorder.
This was so rare it is thought to have been unique and not found in any other animal or human at that time. Armed with the information, physicians were able to perform core-blood transplant and eight months later, the boy was out of the hospital and thriving.
This technique is likely to become routine in the future and will probably be demanded by many health insurers in the not too distant future.
8. CRISPR-Cas9 Has Been a Game-Changer in Human Biology Research
CRISPR or Clustered Regularly Interspaced Short Palindromic Repeats, were first discovered in Archaea, and later bacteria, by Fransiciso Mojica from the University of Alicante in Spain, in 2007. Experimental observations allowed him to note that these pieces of genetic materials formed an integral part of the parent cells defense mechanisms to fend of invading viruses.
CRISPR are pieces of genetic code that are interrupted by 'spacer' sequences that act like the immuno-memory of the cell from previous 'infections'. Archaea and bacteria use CRISPR's to detect and fight off invaders in a process called bacteriophage in the future.
CRISPR was catapulted into the public domain when in 2013 Zhang Lab was able to demonstrate the first edit of a genome in mammals using CRISPR-Cas9 (CRISPR-associated protein 9).
This successful experiment showed that CRISPR could be used to target specific parts of an animal's genetic code and edit the DNA in situ.
CRISPR could be incredibly important for the future of human biology through permanently modifying genes in living cells to correct future potential mutations and treat the causes of disease.
This is impressive enough but CRISPR technology is constantly undergoing refinement and improvement.
Many industry experts believe CRISPR-Cas9 has a bright future. It will likely become a vital diagnostic and corrective tool in the field of human biology and could be used as a treatment for cancer and rare diseases like cystic fibrosis.
9. CAR T-Cell Immunotherapy Could Be The End Of The Road For Cancer
CAR T-Cell Immunotherapy is one potential development in research that could end the threat of cancer for all of us.
Immunotherapy has developed a lot over the last few years and promises to enlist and strengthen the patient's own innate defensive systems to target and attack tumors. This form of treatment has come to be known as the "fifth pillar" of cancer treatment.
T-cells, in a healthy immune system, patrol your body tirelessly looking for foreign invaders like bacteria and viruses. Unfortunately, they tend to be ineffective against cancer cells as they are, after all, able to 'hide' from the body's immune system - being out of control native cells.
If scientists could tinker with the bodies natural defensive system to identify cancer cells as a foreign invader, it could provide a means of automatically searching and destroying them. This is the promised 'holy grail' of T-Cell Immunotherapy.
CAR T-Cell therapy falls under the banner term of adoptive cell transfer (ACT) which can be further subdivided into several types (of with CAR's are one). CAR T-Cell therapy is, however, leagues ahead of the others in advancement to date.
Some CAR-T Cell therapies have even been approved by the FDA in 2017. One such example is the treatment of Acute Lymphoblastic Leukemia (ALL) using the technique.
But before we get carried away with its potential for the future, it is still in its infancy.
Steven Rosenberg, M.D., Ph.D., chief of the Surgery Branch in NCI’s Center for Cancer Research (CCR), does have high hopes for the therapy, however.
“In the next few years,” he said, “I think we’re going to see dramatic progress and push the boundaries of what many people thought was possible with these adoptive cell transfer–based treatments.”
10. The Genes That Determine Nose Shape Was Identified
Back in 2016, researchers at the University College London were able to identify four genes that determine the shape of human noses - for the first time. The team focussed their research on the width and pointiness of noses which greatly varies among people.
Conducting research on over 6,000 people in Latin America, they were able to identify the genes that determined nose shape and chin shape.
According to their report:
"GLI3, DCHS2, and PAX1 are all genes known to drive cartilage growth — GLI3 gave the strongest signal for controlling the breadth of nostrils, DCHS2 was found to control nose pointiness and PAX1 also influences nostril breadth. RUNX2 which drives bone growth was seen to control nose bridge width." -Sci News
This research may find future applications in identifying birth defects in children and could be very useful for 'cold case' forensic studies.
11. Recent Developments in Human Biology Could Make Us Virus Proofing
Recent research from scientific groups like the Genome Project-write (GP-Write) is planning to make human cells 'virus-proof'. They also plan to make cells resistant to freezing, radiation, aging and, yes you've guessed it, cancer.
The ultimate ambition is to make 'super-cells' that would if successful, have enormous ramifications for human biology and society at large.
Jef Boeke, the Director of the Institute of Systems Genetics and NYU Langone Medical Center recently said : “There is very strong reason to believe that we can produce cells that would be completely resistant to all known viruses."
“It should also be possible to engineer other traits, including resistance to prions and cancer.” he expanded.
As ambitious as this sounds they actually have grander plans to, hopefully, fully synthesize the human genome in the lab one day.
Their goals will be achieved using a process called DNA re-coding. This process will prevent viruses from exploiting human cells being reprogrammed as virus factories.
"The overall GP-write project is focused on writing, editing and building large genomes. We will generate a wealth of information connecting the sequence of nucleotide bases in DNA with their physiological properties and functional behaviors, enabling the development of safer, less costly and more effective therapeutics and a broad range of applications in other areas such as energy, agriculture, healthcare, chemicals and bio-remediation,” explained Boeke.
If their research is successful, we could be able to tinker with and refine the human genome at will and at a much faster rate than evolution. The possibilities (and dangers) would be enormous for humanity.
Marianne Paguia Gonzalez, a technologist and systems engineer at JPL-NASA, gives us insights into her work for the space agency and a whole lot of pointers on getting into NASA.