Last year stands out for a slew of important medical advances and research, from groundbreaking new benefits of weight-loss drugs to the impact of artificial intelligence (AI) in medicine, as well as major steps with CRISPR and CAR T-cell therapies.
Forbes and Euronews round up some of the most noteworthy topics that received the attention of researchers and made headlines in 2024.
CRISPR therapy
It is now 12 months since the US Food and Drug Administration rolled out the historic approval of a CRISPR therapy designed for patients suffering from sickle cell anaemia and the blood disorder beta thalassemia.
From reprogrammed stem cells to next-generation gene editing, 2024 saw some incredible developments with the potential to become new treatments for a range of chronic and inherited diseases.
Stem cell treatment restores vision
The fragile layers of cells that cover the cornea, the dome-shaped, outermost layer of the eye, can easily be damaged by burns, infections, inflammatory diseases of the eye and even side effects of certain drugs. Known as corneal epithelial stem cell deficiency, it can lead to vision loss and, in particularly serious cases, blindness.
Previously most attempts to replace the cornea through donor transplantation have failed due to rejection by the immune system.
However, a world-first clinical trial conducted by a team from Osaka University, led by ophthalmology Professor Kohji Nishida, successfully treated four patients with severe corneal eye diseases using reprogrammed stem cells.
Circular sheets of corneal cells, generated using induced pluripotent stem cells (iPS) derived from umbilical cord blood, were transplanted into four patients aged 39 to 72 with corneal epithelial stem cell deficiency. The study showed that their vision has been restored, and the beneficial effects remain after four to five years of follow-up.
“We plan to initiate a larger clinical trial in the first half of next year,” said Nishida. “I believe that iPS cells can be used to treat other eye diseases, including corneal endothelial disease as well as retinal diseases such as retinitis pigmentosa.”
Artificial ovaries on the horizon
According to the CDC, 13.4% of women aged 15 to 49 have impaired fertility, with causes ranging from conditions likes polycystic ovarian syndrome and endometriosis to the impact of certain medications.
For years, scientists have sought to tackle this through developing an artificial ovary, but this work has longer been hampered by a limited understanding of what it takes for an ovarian follicle to mature and produce an egg.
Last year, scientists from the University of Michigan created the first “cellular atlas” of human egg formation by studying five donated ovaries using state-of-the-art cell and genetic mapping technologies. Through examining how the follicles move and change in structure as they progress through different maturation stages, the scientists identified key factors that enable a follicle to mature.
Ariella Shikanov, associate professor of biomedical engineering at the university, who led the project, predicts that this understanding could lead to new treatments for polycystic ovarian syndrome and endometriosis and potentially even functional artificial ovaries.
“With this new knowledge of ovarian biology, we are better informed when we try to create artificial ovaries as a potential treatment of female infertility,” she said. “With the ability to guide follicle development and tune the ovarian environment, the engineered ovarian tissue could function for years and even delay menopause.”
CAR T-cell therapy – new hope for brain cancer
With a median survival time of just 15 to 18 months, a diagnosis of glioblastoma, the rare and aggressive form of brain cancer, has often been regarded as a death sentence.
This could change through CAR T-cell therapy, which re-engineers a patient’s immune cells. It has already made a remarkable difference to the treatment of blood cancers over the past decade.
Earlier last year, researchers at Stanford demonstrated that infusions of CAR T-cells into the brains of paediatric patients with brain cancer could offer new hope. At the same time, three other research groups conducted studies that show benefits on imaging scans after infusing CAR T-cells into the brains of adult glioblastoma patients.
These results have already generated such optimism that Carl June, the renowned University of Pennsylvania immunology professor who helped pioneer the first CAR T-cell therapy for certain blood cancers, predicts that there will be FDA-approved CAR T-cell therapies for glioblastoma within five years.
Bridge RNAs represent next generation of gene-editing
While CRISPR promises to revolutionise the treatment of rare diseases caused by mutations in a single gene, experts are already pioneering gene editing’s next frontier.
Last year, researchers at the Arc Institute, an independent NPO that partners with UC Berkeley, Stanford, and UC San Francisco, published a paper unveiling the discovery of bridge RNAs as a way of regulating genetic transposition. This refers to the ability of DNA to jump from one place in an organism’s genome to another.
Patrick Hsu, co-founder of the Arc Institute, said this allows for a more complex kind of gene editing, and that while CRISPR can only make a “cut” in DNA, bridge RNAs make it possible to “cut and paste”, rearranging any two pieces of DNA to insert, flip or cut out a genetic sequence of interest in a single step.
This could have enormous implications for using gene editing to treat a much broader swath of diseases in the coming years.
“Many diseases, chronic and acute, are driven not by a small number of nucleotides in one gene, but by larger-scale genetic variations such as missing, repeated or inverted genetic passages, often across a number of genes,” says Hsu. “Bridge RNA's powerful and flexible editor may help us replace these disease-causing genetic sequences entirely.”
Gene therapy allows deaf child to hear for the first time
Most of us have never heard of the otoferlin (OTOF) gene, but it plays an integral role in our ability to hear, through the production of a protein that allows sounds to be communicated from the ear to the brain.
A small number of people are born with an inherited mutation, which means that this gene is defective, leaving them so profoundly deaf they have never heard a human voice.
Last year, a team led by surgeon John Germiller at the Children’s Hospital of Philadelphia unveiled results from a first-in-human gene therapy procedure that treated inherited hearing loss in an 11-year-old boy by placing a single, small dose of functioning OTOF genes in the cells of his inner ear.
OTOF is a particularly large gene, a characteristic that has previously been considered challenging for gene therapy, as such genes are too heavy to be carried by a single modified virus. However, Germiller and his colleagues split the gene into two separate parts, a “dual vector approach” that enabled it to be carried by the virus, and then reassembled within the patient’s cells.
The procedure worked with dramatic consequences. “Our first patient had never heard sounds in his lifetime,” says Germiller.
“About two weeks after the experimental procedure, he began to notice sounds, which gradually grew in strength and clarity. Soon he could hear his father talking to him, and cars on the street. It was very gratifying.”
Germiller says there has been considerable interest within the field in the success of the dual vector approach, creating the possibility of similar clinical trials for other genetic conditions such as retinal diseases where the genes involved have previously been thought to be prohibitively large.
Weight-loss drugs
GLP-1 receptor agonists fell under the spotlight again after several new studies analysing the impact of these blockbuster drugs, and the finding that semaglutide – marketed as Ozempic or Wegovy – reduced cardiovascular events like stroke and heart attack in adults with pre-existing disease. It was also linked to reduced kidney failure, while another drug in the same class, Tirzepatide, might reduce the severity of sleep apnoea.
HIV injection
There were also important study results showing that a twice-weekly HIV injection is more effective than the daily oral pill (pre-exposure prophylaxis) at preventing the virus, while a Swedish study found that a blood test was 90% accurate in determining if a person had Alzheimer’s disease.
This could make the process of diagnosing the condition less cumbersome, as patients currently need a sample of cerebrospinal fluid or a PET scan to determine if they have the condition, which is the most common form of dementia.
Alzheimer's
New treatments for certain Alzheimer’s patients were also approved, with European regulators green-lighting Lecanemab, after initially rejecting it. The drug was shown in a trial to slow cognitive decline related to the disease.
AI and cancer therapies
The UK’s National Health Service (NHS) notably launched a trial for personalised cancer vaccines in 2024, while the increasing impact of AI in medicine was another area under focus.
Published studies relating to specific treatments for breast cancer and Hodgkin lymphoma were “practice-changing” for physicians, while the ongoing effects of long Covid, which a study found can endure for years in young people, and research on the links of ultra-processed foods to several adverse health outcomes, as well as climate change and its impact on health, were also key areas of interest for researchers.
A large Danish study, for instance, found that air pollution was linked to infertility in men and noise pollution was linked to infertility in women, while the emergence of bird flu (H5N1) and other flares of infectious disease outbreaks around the globe also drew much attention.
Forbes article – 5 Important Medical Breakthroughs Of 2024 (Open access)
See more from MedicalBrief archives:
CRISPR gene-editing improves vision in blind children – US trial
T-cell therapy ups odds of solid tumour survival – Singapore trial
Air pollution and traffic noise tied to infertility risks – Danish study
Twice-yearly anti-HIV jab shows total protection – African study
AI predicts Alzheimer’s seven years before symptoms seen
GLP-1 drugs may protect brain health – US review