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Junctional epidermolysis bullosa leaves the skin as thin and fragile as paper, because of faulty DNA
programming. The treatment entailed removing a patch of the boy’s healthy skin that contained
faulty DNA, and repairing it with a customised virus in the laboratory. Thereafter, the modified skin
was grafted back onto the patient’s body over the course of several operations, where it grew back
successfully.
Two years later, Hassan enjoys fully functioning, healthy skin. According to Dr Michele de Luca, who
led the team, his skin is currently stable and robust, without blistering or itching.
This medical method has been proven to be a non-invasive and rapid manner of detecting cancer
early. In addition, routine cancer check-ups will soon become easier and more effective, and cancer
care will be more personalized.
Dr Renier Brentjens of the Memorial Sloan Kettering Cancer Centre in the US explains that it is
possible for these CAR T-cells to remain in the body, thereby guarding against cancer recurrence, so
the therapy frequently results in long-term remissions. Blood-cancer patients who have been
treated with this new therapy have reported a remission rate of 90%. It is expected this treatment
will soon be presented to the FDA for treatment of acute lymphoblastic leukaemia (ALL), and, if it is
successful, in the future cellular immunotherapy can possibly replace chemotherapy, thereby doing
away with many of the side-effects. Click here to find out more about immunotherapy.
For nearly half a century, organs for transplantation were packed and placed in saline and ice
before the medical operation, but injuries were a risk. With the OCS device, which stands at waist
level and rolls around on a cart, the heart is allowed to keep beating and circulating the donor’s
warm, oxygenated, nutrient-laden blood until it is disconnected and implanted into the recipient.
The advantages lie in the fact that blood has an excellent capacity for oxygen delivery, and is a
potent antioxidant, free-radical scavenger and an efficient buffer, while also reducing injury.
Click here to find out more about this.
Duke neurosurgery residents Andrew Cutler and Shervin Rahimpour are responsible for this
innovation, which will be particularly helpful for “blind” surgeries, such as extraventricular drain
(EVD) placement. Instead of having to rely on static CT scans and physical “landmarks”, medical
doctors will now be able to place a three-dimensional image of a brain onto a head, and watch a
virtual projection of the catheter as it pierces the brain.
2017 has seen its fair share of medical breakthroughs and pioneering research.
This has paved the way for several new advances we can expect in 2018.
With improved technology, remote treatment and better distribution of medical services and
medicine is rapidly becoming a reality.
In 2016, it was reported that a start-up company made use of drones to deliver medicine to
Rwanda. This practice has since become routine and it is estimated that even more areas will
benefit through this method.
This method holds potential for the treatment of many diseases, including retinaldegenerative
disease and inherited diseases, such as cystic fibrosis and haemophilia.
It was reported in November 2017 that the FDA is set to approve a gene therapy for inherited
retinal diseases. Many experts believe that this could pave the way to treatment for even more
diseases.
3. ASL patients will be able to communicate with their thoughts
Earlier this year, CNN reported on a new technology that could help decode the thoughts of those
with functional brain activity in a completely paralysed body, brought on by a stroke, traumatic
injury or amyotrophic lateral sclerosis (ALS).
The initial research was published in the journal PLOS Biology. While the research was only in the
beginning stages at the time, it holds great promise for 2018.
Diabetes is caused by the insufficient production of insulin by the pancreas. It was reported in May
2017 that the first artificial pancreas systems were beginning to infiltrate the market to help
diabetics regulate their insulin levels.
As of December 2017, these are still not widely distributed, but we can expect artificial pancreas
systems to become more prominent in 2018 and further.
The Hybrid Close-Loop Insulin Delivery System in the first automated artificial pancreas system.
When powerful cholesterol drugs known as PCSK9 inhibitors were approved by the FDA in 2015,
many experts hailed it as an enormous breakthrough. The study findings were reassuring, but more
studies were needed to see whether this would pave the way for a medication with fewer side-
effects than statins.
But new studies have reported good news – earlier in 2017, a 20% reduction in LDL was reported
in a study group of 25 982 patients. We can expect this drug to be used more frequently in 2018.
We know the drill when it comes to surgeries – no eating and drinking beforehand, feeling a bit
groggy afterwards and being prescribed pain medication to help with the recovery. But
readmissions after surgery remain a problem, not to mention the opioid problem caused by
painkiller prescriptions.
New research has been looking at the Enhanced Recovery After Surgery (ERAS) protocol that
accounts for various methods to speed up recovery after surgery. This includes post-operative
nutrition plans and alternative methods to pain medication to speed up the recovery process.
Breast cancer is a disease that will affect one in 26 South African women in their lifetime. We rely
on treatments such as chemotherapy to fight the cancer cells, but these do not always have the
success rate we hope for.
In 2018 we could expect to see more targeted treatments for breast cancer that is designed to
target the specific characteristics of the cancer cells, such as the protein that allows the cells to
grow in a malignant way, according to Breastcancer.org.
Sleep apnoea is a potentially dangerous condition and treatment for moderate to severe sleep
apnoea is often evasive and uncomfortable, involving the Continuous Positive Airway Pressure
machine (CPAP). This machines blows air into your nose via a nose mask, keeping the airway open
and unobstructed.
But a less invasive method was approved by the US FDA in October 2017. The Remede sleep
system, an implanted device that treats central sleep apnoea by activating a nerve that sends
signals to the diaphragm to stimulate breathing, has been approved by the US Food and Drug
Administration.
Following successful trial studies, this could be a treatment that we see more frequently in 2018.
9. Next-generation vaccines
Developing vaccines for emerging diseases are pricey and time-consuming. It is important to keep
abreast of vaccine technology and develop new ways of vaccination manufacturing to keep
epidemics under control.
Luckily, innovators will be upgrading the vaccination manufacturing process in 2018. This includes
freeze-drying so that vaccinations can be transported to remote areas more effectively. Companies
are also investigating faster ways to manufacture vaccinations to make them more readily
available.
The jury is still out on this one, but deserves a mention. In 2017, Sergio Canavero, a neurosurgeon
from Italy, was set to perform the first head transplant. Up to now, there has been no success in
animal experiments.
This lengthy 36-hour long procedure will allow the head to be removed and be reattached to a new
body, with all the nerve ends and blood vessels reattached and the spinal cord glued with a special
bio-compatible glue.
Els van der Heijden has cystic fibrosis but the 53-year-old was not benefiting from the expensive
medication she was taking. Doctors did not want to try a new, more expensive drug because it had
not been proven to work in people with the rare type of cystic fibrosis that Van der Heijden had.
Instead, they scraped a few cells from Van der Heijden and grew a mini version of her
large intestine in a petri dish. When Van der Heijden's "mini gut" responded to treatment, doctors
knew it would help her too.
This experiment was conducted to help people with rare forms of cystic fibrosis. So far, doctors
have grown mini guts – just the size of a pencil point – for 450 of the Netherlands' roughly 1 500
cystic fibrosis patients.
A seven-year-old boy from Germany had a rare genetic disease called epidermolysis bullosa and
was on the brink of death. This disease makes the skin extremely fragile and thin, and had
destroyed nearly 60% of his skin. As a result, he was suffering from fatal sepsis.
Doctors intervened by using stem cells and gene therapy to engineer a fully functional skin for the
boy. He was the first person in the world to receive a skin transplant of this magnitude, and this
operation holds potential for more research.
On local soil, a man suffering from advanced skin cancer and lymphoedema has received successful
reconstructive surgery.
Surgeons at Life Vincent Pallotti Hospital successfully performed a novel vascularised lymph node
transfer, a procedure done on small blood vessels to treat lymphoedema.
Lymphoedema is a painful side effect of cancer and cancer treatment. This procedure is believed to
be the first in South Africa.
4. Boy born with HIV remains stable for eight years, without using drugs
A South African child born with the Aids virus has kept the infection suppressed for more than eight
years after stopping anti-HIV medicines – more evidence that early treatment can occasionally
cause a long remission that, if it lasts, could be a form of cure.
The case was revealed during July 2017 at an Aids conference in Paris, where researchers also gave
encouraging results from tests of shots every month or two instead of daily pills to treat HIV. This is
a very promising reason why people should stay on their treatments, according to researchers.
Another important breakthrough was made with regards to HIV. Scientists discovered that they
could successfully cut out the HIV virus from mouse cells making use of CRISPR (gene editing)
therapy. The study was first published in the journal Molecular Therapy.
While this study is still in its infancy, the HIV virus was eliminated by only one round of treatment –
with more research, this technology can have far-reaching consequences for HIV.
6. The Nobel Peace Prize awarded for breakthrough research on the circadian rhythm
This year the Nobel Prize for Medicine was awarded for insights into our internal biological clock.
The Nobel Prize for Medicine was presented to three Americans for discoveries about the
body's daily rhythms.
Circadian rhythms adapt one's physiology to different phases of the day, influencing sleep,
behaviour, hormone levels, body temperature and metabolism. Groundbreaking research into our
circadian rhythm can produce even more groundbreaking research on health.
US health officials have approved a breakthrough treatment that genetically engineers patients'
own blood cells into an army of assassins to seek and destroy childhood leukaemia.
CAR-T treatment uses gene therapy techniques to turbocharge T-cells, which are the immune
system soldiers that cancer too often evades. Researchers filter those cells from a patient's blood,
reprogram them to harbour a "chimeric antigen receptor", or CAR, that zeroes in on cancer, and
grow hundreds of millions of copies.
When this cell is returned to the cancer patient, it can continue multiplying and help fight the
disease for months or even years after.
According to Mashable, the process of bio-engineering a penis involves using donor penis as a base.
The penis is soaked in a solution for two weeks to remove the donor’s DNA. This prevents the
recipient’s body from rejecting the penis once it is attached. Cells taken from the patient are
cultivated in the lab for six weeks before they are placed onto the base.
Surgeons from the Maastricht University Medical Centre in the Netherlands performed the first
robot-assisted super-microsurgery. The robot sutured vessels as small as 0.3 mm to treat
lymphoedema in a patient. It’s a delicate procedure but the robotic assistance made it go without a
hitch.
And finally, a huge breakthrough by South African researchers – the identification of a new gene
called CDH2. This gene is responsible for causing arrhythmogenic right ventricle cardiomyopathy
(ARVC), a genetic disorder of the heart that causes cardiac arrest.
Researchers at the University of Cape Town’s Hatter institute for Cardiovascular Research in Africa
(HICRA), with global collaboration, have identified a new gene that is a major cause of sudden death
among young people. Although everyone has the CDH2 gene, a mutation of it causes the genetic
disorder that leads to ARVC.
hings move fast in the world of modern medicine, but if expert predictions about what to expect in
2018 prove true, they might move at a quicker speed than anyone anticipated.
It could also see technology companies start to become as important a player in the health-care
sleep apnea are coming from Silicon Valley and could dramatically shift the current paradigm.
The Cleveland Clinic, for the past 10 years, has put together an annual list of expected medical
innovations for the coming year. In that time, says Chief Wellness Officer Dr. Michael Roizen, who
leads the initiative, the group has truly missed only one prediction. While the group has
occasionally been a bit premature in some of its estimates, he says, the predictions have ultimately
come true.
Apple urged to take action on smartphone addiction some call 'digital heroin'
To make the predictions, the group interviews more than 150 physicians, 30 to 40 venture
capitalists and a handful of media who cover the medical industry across the country to get their
collective thoughts on what's imminent. That list is then honed, eliminating long-shot candidates,
and goes through a double-elimination vote among physicians and venture capitalists. Nominees
are thoroughly vetted, and the groups eliminate candidates throughout the process.
In a historic move, the FDA has approved gene therapy for inherited retinal diseases. The approval
signals a new era for gene therapy, which suffered setbacks for years but is now pressing forward.
Patients that have a defective gene called RPE65 — which is responsible for producing a protein
that makes light receptors in the eye — suffer from leber congenital amaurosis and retinitis
The treatment made by Spark Therapeutics is called Luxturna. It is injected into the eye and uses a
While not a cure, it can improve eyesight substantially, according to researchers. But it comes with
Spark gene therapy drug priced less than expected at $850,000 10:34 AM ET Wed, 3 Jan
2018 | 01:45
This breakthrough can be a big first step in medicine. "If you look at cancer, we know the majority
of cancer starts with a DNA defect," Dr. Roizen says. "And that DNA defect can be corrected or
ameliorated. Say you have a family who has in vitro fertilization; they will examine the genes of the
embryo before it gets implanted to see if it has any problems — and if so, can we intervene and
change that problem? … This has a huge potential that is just going to start to break through."
The Cleveland Clinic's not the only group that's bullish on gene therapy. Health24 listed it as one of
Bad cholesterol, known as low-density lipoprotein (LDL), is a major factor in heart disease. And
certain new drug combinations can lower LDL levels by 75 percent. PCSK9 inhibitors, along with
statins, have proved especially powerful at reducing bad cholesterol numbers. That, says Roizen,
could also help people truly change their lifestyles to focus more on healthy living.
A number of trials are testing this theory now to see just how low LDL levels should go. Doctors
now have the tools and research to help reduce cardiovascular death.
Part of the reason an intensive care unit is so chaotic is because alarms are constantly going off —
and they're not always critical. (One study, says Roizen, found that 80 percent of hospital alarms
Big data is starting to inch its way into the hospital and this year could be a turning point, as
"mission control" operations monitor those alarms and alert staff when things require
intervention. Those stations can spot trends that harried health-care employees can't as they rush
from crisis to crisis. And using artificial intelligence algorithms, they can predict which patients
will get in trouble and let doctors and nurses intervene, ideally before it becomes critical.
Similarly, hospitals are discharging patients quicker than ever these days. But follow-up
appointments with doctors can be challenging — and are certainly inconvenient, since the patient
has to drive (or be driven) to the doctor's office for what often amounts to a five-minute
appointment.
"Well over 80 percent of our post-op patients now see their surgeon every day via … an app on the
iPhone, where they can show the wound and talk to the doctor," says Roizen. "It's an ease of
convenience so the patient doesn't have to come in for the one-week checkup. Instead, they can be
Sleep apnea affects 22 million people and can lead to high blood pressure, heart disease and
stroke. Popular treatments, like a CPAP machine, might be effective, but they still make sleeping
difficult for people with sleep apnea. That's why it is estimated that more than 40 percent of sleep
Neuromodulation is a new way to treat apnea. Think of it as a pacemaker for poor sleepers. The
implant is controlled by a wearable patch that is worn during sleep that stimulates the patient and
ensures key airwaves are kept open during sleep. Clinical tests have been encouraging, and they're
"It's really in its infancy, but this will replace CPAP in 50 to 70 percent of patients eventually,"
predicts Roizen. "It will bring partners together again, as opposed to them sleeping in other
rooms."
An artificial pancreas
Frederucj Florin | AFP | Getty Images
A woman wears an early prototype of a bio-artificial pancreas (BAP) at the European Center for the
Study of Diabetes on July 3, 2014, in Strasbourg, eastern France.
Diabetes kills more Americans every year than AIDS and breast cancer combined, according to the
American Diabetes Association. Now the 1.25 million Americans who suffer from Type 1
diabetes might have a ray of hope on the horizon: A hybrid close-loop insulin delivery system that
The technology, essentially an artificial pancreas, is expected to become more widespread this
year as more patients demand the technology and more insurers reimburse the system. It uses
the body. Approved by the FDA, it enables direct communication between a glucose monitoring
Ultimately, that could be good news for people with Type 2 diabetes, which is much more common.
"This will be of great use to people with Type 1 diabetes, but we think it will spread quickly to the
. Tricorders
On the original Star Trek, Dr. McCoy (a.k.a. “Bones”) carried a sensory device called a tricorder to
record and relay medical information. Soon, thanks to Qualcomm’s $10 million XPrize competition,
that neat fictional gadget could become a health care reality.
Over the last five years, teams from the U.S., the U.K., Canada, India, and Taiwan have competed to
develop their own functional tricorders—portable tools able to diagnose health conditions and take
real-time vital signs like blood pressure. The winning design will be announced in early 2017, with
the hope that, eventually, individuals will be able to use it at home, “to assess and manage their
health independent of a hospital or doctor’s office.” Live long and prosper, indeed.
There have been such tremendous advancements in treatments for blood cancers like leukemia and
lymphoma, that the five-year survival rate for children with Acute lymphocytic leukemia (ALL) is
now over 85 percent. And starting in 2017, those kinds of numbers may leap even higher.
For the first time, pending FDA approval, chimeric antigen receptor (CAR) T-cell therapy will be
made available to “high-end” cancer centers around the country. In this kind of cellular
immunotherapy, white blood cells called T-cells are extracted from a patient, treated at a special
laboratory, and then returned to the patient to fight cancer cells. Trials on kids with ALL have
proven very successful, with high rates of complete remission. The Leukemia & Lymphoma Society
notes that studies of CAR T-cell therapy on multiple myeloma,chronic lymphocytic leukemia (CLL),
and some types of non-Hodgkin lymphoma (NHL) have also been “very promising,” as well.
3. Augmented Reality
When Pokémon Go burst onto the scene this past July, millions of everyday Americans got their first
taste of augmented reality (AR), in which a computer digitally enhances the sights and sounds of
real-life environments. While some AR tools have already made inroads into health care—like
AccuVein, which maps out patients’ veins for phlebotomists and nurses—the incredible technology
will become even more widespread in 2017, as it:
teaches doctors and medical students how to do certain surgeries, procedures, and dissections
helps patients envision their own conditions, treatments, surgeries, and recoveries
maps out the locations of health care providers and life-saving equipment (like defibrillators) for
It’ll be years before they’re a reality, but AR implants for the eyes and ears are coming down the
pike, too. Google and Samsung have already filed patents for lens implants intended to monitor
From prosthetic limbs to artificial hearts, pacemakers to ear implants, we’ve figured out how to
replace darn near every part of the human body. But until fairly recently, blood was a bit of a pipe
dream. Not so anymore.
In 2017, England’s National Health Service (NHS) will conduct early safety trials, in which about 20
people are given small amounts of synthetic blood made from stem cells. The short-term goal is to
create red blood cells to treat specific conditions and illnesses, like sickle cell anemia. The long-term
goal? NHS scientists hope to make enough for transfusions for people with rarer blood types.
When a stroke hits, every second counts; it’s estimated you lose about two million neurons each
minute after the event, and the longer you go untreated, the worse the damage to your brain. That’s
why a Mobile Stroke Treatment Unit (MSTU or MSU) could be a lifesaver.
Usually staffed by paramedics, a nurse, and a medical imaging specialist, among other emergency
personnel, an MSTU is essentially an ambulance dedicated to the fast diagnosis and treatment of
strokes. When a dispatcher calls in a stroke, the MSTU is mobilized to the patient’s home. Once it
arrives, the team is able to determine whether a stroke is caused by a blood clot, administer a drug
to dissolve that clot, and then bring the patient to an appropriate hospital.
Early studies of response time are promising, and there are currently units in Cleveland, New York,
Houston, and Denver, with more coming every day. In fact, one source reports that by late 2017, an
MSTU will be available to more than 40 percent of major-city emergency rooms.
6. Interoperability
If there’s one advancement medical experts and the press seem most excited about, it’s
interoperability, or, the ability of health care information technologies—like a hospital’s digital
systems—to communicate with each other. For those who have wondered why the billing
department can’t get on the same page as your doctor, this is the breakthrough for you.
Set to debut in 2017, Fast Healthcare Interoperability Resources (FHIR) is a kind of tool dedicated
to saving money and lives by improving the speed and efficiency of health data transferal.
Essentially, instead of transferring entire documents, which causes a backup, FHIR transfers
specific bits of health care information—a word, a code—from one place (ex: your doctor) to
another (ex: billing). This means health care workers don’t have to go through tons of extraneous
information to get the data they want, making your experience faster and your records, more
accurate.
On a more personal level, the technology will make it easier to create health apps, as well, which
could filter down to patients in years to come.
According to the Alzheimer’s Association, 1 in 3 current seniors will die with the condition or
another dementia. And while we’re still a long way from a cure, there’s one encouraging treatment
set to begin human trials in 2017: ultrasound therapy on amyloid plaques, which clump around
neurons and are believed to contribute to Alzheimer’s.
Back in 2015, Australian researchers found the sound waves generated by ultrasounds cleared
amyloid plaques (pictured) in mice, 75 percent of which performed better on memory tests
afterward. There was no damage to the surrounding tissue, and the treatment could be much
cheaper than drugs that perform similar functions, reports The Wall Street Journal. Of course,
duplicating the results in humans is a much harder endeavor, thanks to our thicker skulls and more
sophisticated brains. Still, researchers are optimistic about the long road ahead.
PETER DAZELEY / GETTY
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One week before Christmas, the FDA approved a gene therapy for the first time ever, paving the
way for the technique's broader use in solving the most dire medical issues of today that stem from
genetic mutations. Luxturna got an enthusiastic go-ahead from the FDA for people suffering from an
inherited conditions like retinal dystrophy and Leber congenital amaurosis (LCA), which slowly
degrades vision to the point of blindness for some patients. Luxturna targets the RPE65 gene that
these patients can't produce correctly by inserting DNA for the protein directly into the eye via a
harmless virus. The virus funnels itself into the retina, enters cells, and re-programs them by
"infecting" them so begin the proper production of RPE65 and correcting the retina's faulty
mechanism. While Luxturna isn't a complete cure for blindness—it allows LCA patients to discern
shapes and light—it provides a sense of independence and freedom to explore the world that is
often taken for granted by sighted individuals. The therapy offers hope for people like 17-year-old
Christian Guardino, who competed on America's Got Talent and was treated for the disorder at just
13. Guardino told The Daily Beast that before Luxturna, he couldn't see the moon traipsing across
Burn victims face a critical time and medical need when skin is scorched: If they're not covered to
prevent infection, patients can die. In developing countries like Brazil, options that are used in
places like the United States—human skin, pig skin, and artificially grown lab alternatives—aren't
widely available. In the small coastal town of Fortazela, however, doctors have come up with an
ingenious, effective, and cheap fix: sterilized tilapia scales. Tilapia scales have the unique ability to
protect burned skin and stay on thanks to a collagen proteins that are abundant in tilapia skin that
promote healing and reduce scarring in humans. It also helps that tilapia scales retain moisture and
are resistant, allowing them to be a strong but tender barrier for delicate, burned people.
Refrigerated and sterilized, the tilapia skin stays fresh and usable for a couple years. Add to this the
fact that tilapia scales speed healing time, require far fewer changes, and make the healing process
less painful, and tilapia scales come across as practically a miracle. Tilapia scales are not going to
arrive in the United States any time soon for burn victims—other alternatives are plentiful, and
preserving tilapia scales actually can be more costly here—but for developing countries that don't
have access to these options, can sterilize the scales, and where tilapia are plentiful, the tilapia scale
Paralysis used to be an end-all for people with spinal cord injuries: Damage to the fragile cord that
runs messages from the brain to the body's nervous system about movement—jerk your hand off
the hot iron, flick your head this way, shimmy around the table corner, step back from the
oncoming car—meant a lifetime of being unable to move independently. The tragedy of spinal cord
injuries and paralysis ranged from those who couldn't move a limb to others who were
quadriplegic, unable to move any part of their body from the neck down. But in March at Case
Western Reserve University, quadriplegic patient Bill Kochevar was able think about actions and
actually perform them for the first time in eight years. This was thanks to BrainGate2, a system of a
pair of electrodes implanted in Kochevar's brain that communicated with another set of electrodes
embedded in Kochevar's arm muscles. The results are "amazing," he said in a video: Kochevar can
extend his arm and grab objects, an action that seems simple but requires a complex set of
instructions from his brain to his arm that was impossible without BrainGate2. "I thought about
moving my arm and it did," Kochevar said. "I can move it in and out, up and down." For a man who
couldn't use his arms at all last year, that's truly amazing.
MELETIOS VERRAS / GETTY
In mid-December, in a televised moment that warmed hearts, former Vice President Joe Biden
clutched hands with Meghan McCain, whose father, Arizona Sen. John McCain, is battling brain
cancer—the same disease that killed Biden's son, Beau. Biden cited the groundbreaking research
being done at the University of Pennsylvania that holds hope for people battling the terminal
cancer. The chimeric antigen receptor (CAR) T-cell could augment the first line of defense of a cell's
immune response to an invader, whether that be cancer or the flu. Researchers are working on
genetically re-engineering these T-cells with the CAR molecule on their surfaces so they target
tumor cells with an army of similar CAR T-cell copies and destroy cancerous cells. For brain cancer
patients, this could at the very least prolong life, and at the very optimistic end, get rid of brain
cancer tumors, which are unusually aggressive and latch onto organs, making them difficult to saw
off. The FDA has already given the go-ahead to two CAR T-cell therapies: Kymriah, for patients
below 25 battling acute lymphoblastic leukemia, and Yescarta, for non-Hodgkin's lymphoma
patients. It might take a while for these treatments to trickle down to brain cancer patients, but the
astounding results "borders on miraculous," one doctor told The Daily Beast.
AP / ERIC RISBERG
Brian Madeux sits with his girlfriend Marcie Humphrey while waiting to receive the first human
gene editing therapy at the UCSF Benioff Children's Hospital in Oakland, Calif. Madeux, who has
Hunter syndrome, received the treatment on Monday, Nov. 13.
Gene editing technology like CRISPR has captured the imagination of scientists and futurists,
launching ethical debates about designer babies and questions about the accuracy of chopping off
blocks of DNA or squeezing in bits to "perfect" the human genome. But until November of this year,
gene editing was limited to the petri dish sort: Isolated chains carefully edited using tools outside
the human body. In November, however, that changed for the first time ever. Brian Madeaux, who
suffers from Hunter syndrome (a condition that prevents Madeaux from properly breaking
carbohydrates down due to an enzymatic malfunction), had a non-infectious virus carrying two zinc
finger proteins injected into him. In other words, the gene editing was occurring right in his body,
not outside of it, which pushed the boundaries of this research forward into new frontiers.
Madeux’s proteins carried instructions for cells to fix the enzyme issue, which was then copied to
the liver. That's huge: The very mechanism that Madeux had suffered from for his entire life was
getting corrected right at the base with precision. "We cut your DNA, open it up, insert a gene, stitch
it back up. Invisible mending," a doctor told the AP. Madeux is still under constant supervision but
he's "nervous and excited" to see what this gene therapy could do, and what it might mean for the
The news that comes out of research universities and hospitals often sounds too hopeful: Here's a
gene that maybe, could potentially end obesity. This newly discovered protein pathway might sort-
of, some day cure cancer.
Do any of the thousands of studies published each year really result in a meaningful change in
someone's life?
Here's your answer: For the eighth consecutive year, the Cleveland Clinic has selected 10
technologies and discoveries that are already making an impact.
“We look for innovations that are somewhat disruptive, so a new medication isn't just a little better,
it's substantially better,” says Michael Roizen, M.D., who headed the panel of 30 medical
professionals that selected this year's finalists. Check out the technology of the future that's already
on our doorstep.
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The system isn't perfect. It lets a blind person regain basic functions like walking on a sidewalk
without stepping off a curb, and distinguishing black from white socks, but only lets you read one
giant-sized word at a time on a Kindle.
Plus, as the retina itself heals over the implant, the quality of vision decreases. The Argus II is
currently only approved for people who have lost their sight from retinal pigmentosis—which
affects 1 in 4,000 Americans.
But the technology could soon help the more than 1.75 million people who suffer from macular
degeneration.
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But even prostate cancer comes in multiple flavors ranging from manageable to very bad. By
analyzing the mutated genome of a tumor, doctors can now pinpoint whether a cancer is sensitive
to a certain chemotherapy, or one that doesn’t respond at all to current treatments.
Knowing the subtype might mean jumping directly to a clinical trial that could save your life.
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Even more impressive: The NeuroPace can be fine-tuned by doctors based on its performance. In
the first year it was available, seizure episodes were reduced by an average of 40 percent—but 2
years later, they dropped by 53 percent.
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And that was after as much as 48 weeks of a strict anti-viral drug regimen, including injections of
interferon—which causes a number of debilitating side effects.
But the new drug Sofosbuvir is a much more potent killer of hep C, with success in as many as 95
percent of patients. Even more, the medication only has to be administered for 12 weeks, sans
interferon injections.
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Between keeping track of your heart rate, breathing, and brain functions, an anesthesiologist also
needs to be familiar with the ins and outs of the procedure so they can adjust sedatives and
painkillers—without causing complications.
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Take heart: The digested food waste in feces isn't itself the cure. You're simply gaining some of the
helpful bacteria living in the donor's gut—like a farmer choosing the hardiest crops to seed next
year's fields.
“The bacteria produce proteins that are involved in a lot more diseases than we realized,” says Dr.
Roizen. Still grossed out? Researchers in Canada have developed a method to deliver just the
bacteria—no feces—via an oral pill, skipping the need for a poo enema.
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But a new drug called Serelaxin has upped the odds of survival by as much as 37 percent, according
to a University of California, San Francisco study. It's a synthetic version of the hormone relaxin,
which is produced by pregnant women to help with the increased stress carrying a fetus places on
the heart.
“It not only opens up your blood vessels to supply your organs oxygen, but it has anti-inflammatory
properties,” Dr. Roizen says. Serelaxin's life-saving potential is profound enough that in June, the
FDA dubbed it a “breakthrough therapy,” putting it on a faster track for approval in hospitals.
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But even a light sedative to help you snooze while doctors spelunk your butt requires the presence
of an anesthesiologist—which translates to $1 billion in additional medical expenses, according to a
study in the Journal of the American Medical Association.
Enter the Sedasys: a computer with an attachment on the IV that meters out the correct amount of
sedative and monitors vitals.
It even includes an earpiece to wake patients up if necessary. That allows docs to administer “light
to moderate” sedation on their own, with a single anesthesiologist supervising multiple patients.
“If Michael Jackson's doctor had this and knew how to use it, then Michael Jackson would still be
alive today,” says Dr. Roizen.
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Why? People with the highest levels of TMAO in their blood have 2.5 times the risk of a heart attack
compared to those with the lowest levels, according to a recent study in the New England Journal of
Medicine.
TMAO is a compound produced by intestine bacteria—yep, the same ones involved in fecal
transplants—after you eat choline, which is found in eggs, red meat, and dairy.
Once in your bloodstream, TMAO accelerates the process of cholesterol forming into plaques in
your arteries.
“We're learning why red meat is hazardous, and what could be done to avoid that hazard,” Dr.
Roizen says. Beyond simply avoiding red meat, preventive steps could include probiotics or
medications that pinch off TMAO-producing pathways.
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Recently, a better understanding of what makes cancer cells tick has allowed scientists to develop a
class of drugs that pinpoint a weakness in cancer's uncontrolled growth.
For example, in lymphomas and leukemias, scientists have determined that the growth is controlled
by a protein called Bruton's tyrosine kinase (BTK). After years of experimentation, doctors
developed a new drug called Ibrutinib that blocks BTK.
A pair of studies in the New England Journal of Medicine this summer found that the oral pill helped
71 percent of chronic leukemia patients and 68 percent of patients with a type of non-Hodgkins
lymphoma. Most importantly, Ibrutinib killed off the lymphoma while leaving the rest of the
immune system alone.
“Hopefully this will lead to a whole new class of drugs that will be cancer cell-specific,” says Dr.
Roizen.