Author: ModernMedia

Categories : Cardiovascular Disease GeneticsTags :

Gene Therapy Shows Promise for an Inherited Form of Cardiomyopathy

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Blausen.com staff (2014). “Medical gallery of Blausen Medical 2014“. WikiJournal of Medicine 1 (2). DOI:10.15347/wjm/2014.010. ISSN 2002-4436.

A new gene therapy appears to be safe in patients diagnosed with Friedreich ataxia cardiomyopathy, a progressive and fatal inherited cardiac disease, according to a phase 1 clinical trial led by Weill Cornell Medicine researchers. The treatment may also reduce heart damage, although further investigation is needed. 

The results, published June 17 in JAMA Cardiology, indicated that an intravenous infusion of a healthy frataxin (FXN) gene was generally well tolerated and shows early signs of efficacy. These include a decrease in heart wall thickness – enlarged walls are a sign of cardiomyopathy – and reduced levels of troponin I, a marker of heart damage.

“This is a fatal disease, but this is a potential therapy, and our goal is FDA-approval,” said Dr Ronald G. Crystal, the study’s lead author, professor and chair of the Department of Genetic Medicine at Weill Cornell Medicine and a pulmonologist at NewYork-Presbyterian/Weill Cornell Medical Center.

What is Friedreich Ataxia?

Friedreich ataxia is caused by variants in the FXN gene, leading to decreased levels of the FXN protein, which is essential for energy production in cells. “The two most energy consuming organs in the body are your brain and the heart, so the disease is primarily a brain and heart disease,” Dr Crystal said.

It is an autosomal recessive hereditary disorder, meaning a person must inherit a faulty copy of the FXN gene from both parents. As many as one in 50 000 people in the United States are diagnosed with the disease, according to some reports.

Nervous system symptoms typically begin in childhood and include problems with balance, walking and speaking. While neurologic disease is devastating for maintaining quality of life, most people with Friedreich ataxia develop heart disease, which is the cause of death in up to 65 percent of patients, according to reported estimates. Decreased FXN protein levels in the heart mean the heart cells don’t have the energy to beat normally. The muscle cells grow and the heart walls thicken, a condition known as hypertrophic cardiomyopathy, which can cause dangerous irregular heartbeats and heart failure.  

The US Food and Drug Administration has approved only one other drug, omaveloxolone, to treat Friedreich ataxia. It slows the neurological symptom progression but does not address the direct genetic cause of the disease.

A New Gene Therapy

Based on promising preclinical research, Dr Crystal and his colleagues studied the safety and efficacy of the FXN gene therapy in 17 patients with Friedreich ataxia cardiomyopathy.

“We put the healthy FXN gene in a virus, called adeno-associated virus, which is given intravenously and likes to travel to the heart,” he said.

The researchers pooled data from two independent studies: nine patients were from a Weill Cornell Medicine study, funded by National Heart Lung Blood Institute, and eight were treated in a study by Lexeo Therapeutics, a clinical stage genetic medicine company founded by Dr Crystal. Weill Cornell Medicine Enterprise Innovation, which aims to accelerate the translation of scientific discoveries into patient impact, played a crucial role in launching Lexeo in 2020 and later licensed to it additional technology to further support the clinical trial.

In both studies, the patients received a one-hour infusion of the gene therapy and were evaluated from six to 36 months. Three different doses were tested among three groups of patients.

Overall, the drug was safe, causing four serious adverse events, which were all resolved. Three of these were possibly related to prednisone, an immunosuppression drug that patients took so their bodies did not attack the gene therapy.

In the Lexeo study, researchers took biopsies of the heart before therapy and three months after therapy and found that frataxin protein levels increased in cardiac tissue in all eight patients. Researchers also found that the left ventricular mass index, which is an MRI measurement of heart wall thickness, decreased, demonstrating that the treatment was therapeutic for cardiomyopathy. 

Levels of troponin I, a structural protein of the heart that is released into the circulation when the heart is damaged, also decreased. Troponin I levels are typically high in patients with Friedreich ataxia cardiomyopathy. 

Using the modified Friedreich Ataxia Rating Scale (mFARS), which assesses balance, coordination, speech, and limb function in patients, the researchers found that some neurological components of the disease stabilised. “But we’re unsure whether this was related to the gene therapy reaching the skeletal muscle or the brain,” Dr Crystal said. “That remains to be seen.”

Because most of the patients evaluated in this study had early cardiomyopathy, the researchers also hope to study the gene therapy in people who have a wider range of heart disease severity.

Source: Weill Cornell Medicine

Categories : Ethics and LawTags :

Trade Marks, Trust and the GLP-1 Surge

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The surge in demand for GLP-1 and GIP medicines—particularly those containing semaglutide and tirzepatide—has created significant commercial opportunity. It has also exposed a growing problem: the manufacture and sale of unregistered and potentially unlawful alternatives.

Recent enforcement action by the South African Health Products Regulatory Authority (SAHPRA) highlights the scale of the issue, particularly in relation to products marketed for weight loss (see SAHPRA and the SAPC Crack Down on Unlawful Manufacturing of Unregistered GLP-1/ GIP Medicines). While this is often viewed as a regulatory concern, it raises equally important questions for trade mark law.

Trade marks are traditionally seen as tools for distinguishing one trader’s goods from another’s. In the pharmaceutical sector, however, they do far more. They signal quality, safety, efficacy and regulatory legitimacy.

When those signals are misused, the consequences extend beyond commercial harm—they can directly affect public health.

More Than Molecules: Reputation as the Real Asset

The success of products such as OZEMPIC®, Wegovy® and MOUNJARO® is not driven by their active ingredients alone.

Through years of clinical research, regulatory scrutiny and market presence, these brands have accumulated significant reputational capital. Consumers are not simply looking for semaglutide or tirzepatide—they are looking for certainty.

Consumers want products backed by known standards of safety, tested efficacy and regulatory oversight.

In this context, the goodwill attached to a pharmaceutical trade mark reflects far more than brand recognition. It represents confidence in the entire lifecycle of the product—from development and approval to manufacture and distribution.

Reputation Laundering: Trading on Trust Without Earning It

In the current GLP-1 market, misuse of reputation does not always take the form of direct counterfeiting or even traditional trade mark infringement.

More often, products are marketed as alternatives, equivalents or substitutes for well-known medicines. Advertising often references established brands to attract consumer attention and to confer an aura of legitimacy on products that may not have undergone the same level of regulatory scrutiny.

This is where a more subtle form of exploitation emerges.

Even without reproducing a trade mark, these practices appropriate the trust associated with it. The result is what can aptly be described as reputation laundering, being the transfer of credibility from a trusted product to one that has not independently earned it.

From a trade mark perspective, the damage goes far beyond lost sales. It weakens the link between the brand and the qualities consumers expect from it.

The Consequences for Consumer Trust

The risks become most apparent when products fail to meet expectations- or worse, raise safety concerns.

If a consumer experiences harm after using a product marketed with reference to a well-known brand, the reputational fallout rarely remains confined to the seller. It can spill over to the genuine product.

This is what makes pharmaceutical trade marks unique. The goodwill they embody is inseparable from consumer trust in the safety and reliability of medicines.

Once that trust is compromised, the consequences extend beyond individual brand owners. They can influence patient behaviour, clinical decision and confidence in an entire class of treatments.

The Growing Union Between Regulatory Enforcement and Trade Mark Protection

Historically, regulatory compliance and trade mark enforcement have been treated as distinct legal disciplines. Increasingly, however, the two are becoming interconnected.

Regulatory authorities seek to protect consumers from unsafe or unapproved products. Trade mark owners seek to protect the reputation and goodwill associated with their brands. In many cases, these objectives are aligned.

SAHPRA’s recent focus on unregistered GLP-1 products illustrates this convergence. Both regulators and trade mark proprietors share an interest in ensuring that consumers are not misled regarding the nature, origin or reliability of pharmaceutical products.

As pharmaceutical brands continue to acquire substantial reputational capital, the distinction between consumer protection and brand protection becomes increasingly difficult to draw.

It is clear that pharmaceutical trade marks are no longer simply badges of origin. They have become proxies for trust. As the current GLP-1 market demonstrates, protecting that trust is not only a commercial imperative- it is increasingly a matter of public health.

Categories : RheumatologyTags :

Abatacept Trumps Hydroxychloroquine in Cutting Risk of Rheumatoid Arthritis

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Rheumatoid arthritis. Credit: Scientific Animations CC4.0

A clinical trial led by researchers from Hospital Clínic de Barcelona, the August Pi i Sunyer Biomedical Research Institute (IDIBAPS) and the Institute of Advanced Chemistry of Catalonia (IQAC-CSIC) has compared the effectiveness of abatacept and hydroxychloroquine in preventing the development of rheumatoid arthritis in patients with palindromic rheumatism, an autoimmune disease that progresses to arthritis in approximately half of all patients. The trial was conducted over two years across 14 hospitals throughout Spain and involved 70 patients with palindromic rheumatism. The findings, published in Nature Medicine, indicate that abatacept is significantly more effective than hydroxychloroquine in preventing the onset of arthritis.

Palindromic rheumatism is characterised by intermittent episodes of joint inflammation, with acute flare-ups lasting a few days and resolving spontaneously. However, around half of patients eventually develop rheumatoid arthritis, a chronic disease that causes irreversible joint damage. This risk is particularly high in individuals with biomarkers such as rheumatoid factor and anti-citrullinated peptide antibodies. The presence of these two autoantibodies is used in the diagnosis of the disease.

Until now, in the absence of clinical trial evidence, the standard approach has been to treat patients with palindromic rheumatism using hydroxychloroquine, a drug with anti-inflammatory and immunosuppressive properties aimed at improving disease symptoms. In this context, the team led by Raimon Sanmartí, head of the Inflammatory Arthropathies Research Group at IDIBAPS, conducted a two-year clinical trial involving 70 patients with palindromic rheumatism. The objective was to compare the effectiveness of hydroxychloroquine with abatacept, a lymphocyte inhibitor – a type of white blood cell that attacks the joints after mistakenly identifying them as a threat – in reducing progression from palindromic rheumatism to rheumatoid arthritis

The results show that treatment with abatacept significantly reduces progression to rheumatoid arthritis. Only 20% of patients receiving abatacept developed arthritis, compared with 50% of those treated with hydroxychloroquine. Furthermore, patients treated with abatacept not only avoided progression to rheumatoid arthritis in most cases, but also experienced a significant improvement in palindromic rheumatism symptoms. “The study shows that patients treated with abatacept are more likely to achieve complete remission of attacks associated with acute pain and joint swelling, and that their inflammatory episodes are less severe,” explains Isabel Haro, Head of the Peptide Synthesis and Biomedical Applications Unit at IQAC-CSIC. The research team also highlights that both drugs proved safe and well tolerated throughout the trial.

Early intervention

“The results of this study indicate that we can intervene at an early stage to modify the natural course of the disease and reduce the risk of patients developing more severe and irreversible conditions,” says Sanmartí. “This opens the door to a paradigm shift in the treatment of these patients.”

The study, which involved several national research centres, also analysed the evolution of a number of biomarkers (autoantibodies) developed by the CSIC research group during patient follow-up. “Although no significant differences were observed between abatacept and hydroxychloroquine in terms of autoantibody responses, this work demonstrates the value of immunomodulatory approaches in the early stages of disease, when it is still possible to prevent progression to more severe and chronic forms,” notes Haro.

Source: Spanish National Research Council 

Categories : Diet and Nutrition Neurodegenerative DiseasesTags :

Fish Oil Supplements May Not Prevent Alzheimer’s-related Decline

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New clinical trial results show supplements with omega-3s have no effect on memory or cognitive function in older adults at risk for Alzheimer’s disease

Photo by Aleksander Saks on Unsplash

Fish oil supplements are purported to have cognitive benefits from the omega-3 fatty acids they contain, essential nutrients that help form neuron connections. But a new Keck Medicine of USC study published in eBioMedicine suggests that increasing omega-3 levels via supplements has little effect on brain health despite showing evidence that the nutrients directly reach the brain. 

The two-year, placebo-controlled, double-blinded study of older adults with an elevated risk of developing Alzheimer’s showed that high doses of omega-3s did not improve memory, cognitive function or brain cell loss in areas of the brain related to Alzheimer’s. 

“We all wish there was a silver bullet for preventing Alzheimer’s, but our findings showed that fish oil supplements do not appear to protect brain health,” said Hussein Naji Yassine, MD, director of the USC Center for Personalized Brain Health and lead investigator of the study. “While omega-3s play an important role in forming brain cell connections needed for cognition, our results do not support fish oil supplements as a preventive measure against Alzheimer’s.” 

How the study was conducted 

Researchers recruited 365 adults, ages 55 to 80 who rarely ate fish, which is rich in omega-3s, and who study authors considered at risk for Alzheimer’s. About half (47%) carried an APOE4 gene, the strongest genetic risk factor for late-onset Alzheimer’s. Participants were randomly chosen to receive either daily fish oil supplements or a placebo. The supplements contained 2000mg of docosahexaenoic acid (DHA), a key omega-3 involved in brain function. 

Researchers were first interested to learn whether the omega-3 in the supplement was able to reach the brain.  

They measured DHA levels in cerebrospinal fluid, which surrounds the brain, and found an average 17% increase of DHA levels in patients’ brains after six months, confirming the omega-3 reached its intended target. 

Next, researchers tested participants’ memory and cognitive abilities at the beginning of the study and again two years later. Study participants who took DHA supplements did no better on the tests than those who took a placebo. Brain scans also showed that supplements did not prevent shrinkage of the hippocampus, a brain region important for memory that is often used as a marker of brain aging and Alzheimer’s risk. 

Looking beyond supplements 

Now, Yassine and his team are focused on solving why omega-3 supplements can reach the brain but not affect brain health. Based on their previous research, they believe omega-3s may work better as a part of a Mediterranean-style diet, which is naturally rich in omega-3s and linked with lower Alzheimer’s risk, than in a standalone supplement. 

“We’re focused on better understanding how the brain processes omega-3s and whether factors, such as poor health, dietary pattern, genetic risk and age, may change the brain’s ability to effectively absorb and use omega-3s,” said Yassine. “We are working to develop medications that may help the brain better utilise these nutrients to preserve cognitive function.”  

Holistic lifestyle remains the best prevention  

While out of scope of the study, the researchers stress that overall healthy living – rather than relying on fish oil supplements alone – is the best way to protect brain health.

“Staying healthy throughout life remains the most powerful tool we have for reducing Alzheimer’s risk, including regular exercise, quality sleep and a balanced diet,” said Yassine. “Living a healthy lifestyle is the brain’s equivalent of getting regular car maintenance and high-quality oil changes. The brain is more likely to lose greater function if health issues in other parts of the body go unaddressed, in the same way that car engines stop working if regular maintenance is skipped.”

Source: Keck Medicine of USC

Categories : CancerTags :

Early-onset Colorectal Cancer Risks Also Linked to Parental Characteristics

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Photo by LOGAN WEAVER | @LGNWVR on Unsplash

A recent study found that factors such as a person’s birthweight, sex, ethnicity, and father’s age may affect the risk of being diagnosed with colorectal cancer at a young age. The findings are published by Wiley online in CANCER, a peer-reviewed journal of the American Cancer Society.

In the study of 1,221 people born and diagnosed with early-onset colorectal cancer – defined as being diagnosed before age 50 – in California in 1988–2021 and 61 050 matched individuals without cancer, men had a 34% higher risk of early-onset colorectal cancer compared with women. Also, Hispanic ethnicity was linked with a 43% higher risk compared with white ethnicity. Having a foreign-born mother was associated with a 15% lower risk of early-onset colorectal cancer. Among females, every 500g increase in birthweight was associated with a 10% increase in early-onset colorectal cancer risk and having a father aged 35 years or older was associated with a 56% higher risk. Investigators did not observe any links between early-onset colorectal cancer risk and other demographic, birth, and parental characteristics.

Additional research is needed to uncover potential mechanisms behind these associations.

“Evaluating demographic, birth, and parental characteristics is important in understanding what’s causing the rising incidence of early-onset colorectal cancer,” said lead author Sunny Siddique, MPH, PhD, of the Yale School of Public Health. “Our findings warrant future studies aimed to understand the mechanisms through which factors such as male sex, Hispanic ethnicity, birthweight, maternal birthplace, and paternal age may influence risk of early onset colorectal cancer.”

Source: Wiley

Categories : Respiratory DiseasesTags :

Discovery of 3 Severe Pneumonia Subtypes Could Lead to Tailored Treatments

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Photo by engin akyurt on Unsplash

Cambridge researchers have shown that severe pneumonia has three different subtypes, helping explain why some patients in intensive care units (ICUs) recover from their illness faster than others, while for other patients the disease can be life-threatening.

Their findings could in future help inform tailored treatments, allowing individual patients to receive the most appropriate therapies.

The current approach of classifying patients by their clinical syndromes without looking at the underlying biology risks missing what’s key

Andrew Conway Morris

Pneumonia is the commonest infectious cause of death worldwide, responsible for an estimated 2.5 million deaths per year. In severe cases, patients may need to be admitted to an ICU and given mechanical ventilation. Severe pneumonia accounts for six in 10 infections managed in intensive care, and spread of the infection within ICUs is a significant concern. 

Doctors have long struggled to understand why patients whose condition looks similar clinically can have very different recoveries. Some respond quickly to treatment, while others remain critically ill for weeks or even die.

Dr Andrew Conway Morris from the Department of Medicine at the University of Cambridge and an ICU consultant at Addenbrooke’s Hospital, Cambridge, said: “Even though we’re able to treat the initial infection, many patients with severe pneumonia still struggle to come off the ventilator and can develop lung failure. Therapies to tackle inflammation in the lungs have had mixed results in clinical trials – some suggest they are beneficial, others that they’re harmful. 

“The current approach of classifying patients by their clinical syndromes – sepsis, acute respiratory distress syndrome and so on – without looking at the underlying biology risks missing what’s key. Instead of asking ‘Does this patient have pneumonia?’, we should be asking ‘What’s the inflammatory pattern in this patient’s lungs?’”

In findings published today in Nature Communications, Professor Conway Morris and team recruited patients admitted with suspected severe pneumonia to the ICU at Addenbrooke’s Hospital, part of Cambridge University Hospitals NHS Foundation Trust.

Severe pneumonia is usually diagnosed through a combination of symptoms, imaging and blood tests. Symptoms typically include fever or hypothermia, low oxygen levels, breathing difficulties and confusion.

Instead of relying only on blood tests or scans, however, the Cambridge team analysed immune cells, inflammatory signals, and gene activity in fluid taken from the lungs of the patients. They discovered that there are three distinct biological types – or ‘pneumotypes’ – of severe pneumonia, none of which could be reliably detected using standard blood tests, even though they were strongly linked to how patients recovered.

The most common pneumotype – accounting for almost half (49%) of cases – was characterised by immune suppression, significant damage to the lining of the lungs, and bleeding in the alveoli (tiny air sacs within the lungs). There were fewer signs of inflammation, which may explain why treatments targeting inflammation can fail or even harm some patients. 

The second pneumotype – accounting for just under a quarter (23%) of cases – was characterised by a balanced immune response and active repair of damage to the lungs. Patients were most likely to recover faster from this pneumotype and require the shortest time on the ventilator, even though they initially looked just as ill as the others.

Patients with the most dangerous pneumotype – the one that most resembles ‘classic’ pneumonia – spent longest on mechanical ventilation and had prolonged critical illness. They had severe and persistent inflammation, with a flood of immature immune cells in the lung. This group may be most likely to respond to anti-inflammatory therapies, say the team.  

Dr Mark Jeffrey from the Department of Medicine at the University of Cambridge, the study’s first author, said: “Even though on the surface, all of the patients seemed to have similar types of pneumonia, with comparable illness severity, oxygen levels and clinical diagnoses, their outcomes were very different.

“It was only when we drilled down and looked at patterns of inflammation that the differences became apparent. Severe pneumonia is not a single disease, but several biologically distinct conditions that happen to look alike. This helps explain why ‘one-size-fits-all’ treatments – including some immune-modulating drugs – have often failed in clinical trials.”

The tests used to determine the pneumotypes are too complex to enable rapid classification, but the researchers hope to develop a simplified tool that could help them stratify the patients and ultimately offer tailored treatments.

Dr Vilas Navapurkar from the John Farman Intensive Care Unit at Addenbrooke’s Hospital said: “If we know which subtype of pneumonia an individual has, we can potentially tailor their treatment more precisely, boosting the immune response in some, while calming harmful inflammation in others. This has the potential to help critically ill patients, reduce deaths from pneumonia, shorten ICU stays and cut unnecessary antibiotic use.”

The study was funded by Addenbrooke’s Charitable Trust, the National Institute for Health and Care Research Cambridge Biomedical Research Centre, and The Forster Foundation. Professor Conway Morris is a Fellow at Emmanuel College, Cambridge.

Reference

Jeffrey, M et al. Pulmonary inflammation in severe pneumonia is characterised by compartmentalised and mechanistically distinct sub-phenotypes. Nat Comms; 23 Jun 2026; DOI: 10.1038/s41467-026-74190-x

Source: University of Cambridge

Categories : CancerTags :

Heroes in Purple Speedos Raise R1 200 000

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Hollard Daredevil Run Hands over Funds Raised and Launches 2026 Campaign

Hollard has donated R1 200 000 to the Cancer Association of South Africa (CANSA) and the Prostate Cancer Foundation, with every rand raised by the purple speedo-clad heroes who took part in the 2025 Daredevil Run. At the same event, the 2026 campaign was officially launched and South African men will be called upon to lace up, strip down and do it all again!

Seventeen years in and the Hollard Daredevil Run shows no signs of putting its trousers back on. Under this year’s tagline “Lekker Balls; Lekker Life”, the 2026 cheque handover and campaign launch took place today at Hollard Campus in Parktown, Johannesburg.

The R1.2 million raised in the 2025 Hollard Daredevil Run was formally handed over to CANSA and the Prostate Cancer Foundation (PCF) to fund awareness campaigns, Prostate-Specific Antigen (PSA) screening and patient support. “The Hollard Daredevil Run is an unforgettable experience that raises awareness in a fun, engaging manner and sparks dialogue about men’s health in a non-threatening way,” saysHazel Chimhandamba, Group Chief Marketing Officer at Hollard.

“In 2024, we raised R1 million, 100% of which went directly to supporting prostate and testicular cancer awareness programmes. We are incredibly grateful to every Daredevil who dared to run in a purple speedo. It takes a special kind of bravery to turn heads for something that truly matters. Because behind all the laughs is a very serious mission: getting more men to check in on their health and each other,” adds Hazel.

The stakes are real. Prostate cancer remains one of the leading causes of cancer-related deaths in South African men. One in eight men is expected to be diagnosed with prostate cancer in their lifetime, with Black African men facing a 60% higher risk than other population groups. South Africa’s mortality rate due to prostate cancer is particularly high, largely due to underscreening, sociocultural stigmas and lack of health education.

Testicular cancer, while less widespread, is most common in young men aged 15-49, affecting approximately 1 in every 250 males. When caught early, it is highly treatable. A two-minute self-examination can detect lumps, swelling, or changes early, that’s considerably less time than it takes to run 5km in a purple speedo and the payoff is just as big.

A simple Prostate Specific Antigen (PSA) blood test for men over 40 can detect elevated protein levels before a single symptom appears. “The Hollard Daredevil donation is the largest single donation the PCF receives each year,” says Andrew Oberholzer, CEO of the Prostate Cancer Foundation of South Africa. “The funds help PCF distribute accurate, multilingual educational material and keep free PSA screening programmes running nationwide.”

He goes on to say that the run has also contributed to the development of South Africa’s first comprehensive prostate cancer registry, launching in 2026, which will track incidence, treatment and outcomes. The campaign further funds PCF’s helpline and support networks for men and families navigating a diagnosis.

Lorraine Govender, National Manager: Health Programmes of CANSA states, “The Hollard Daredevil Run has become far more than a fundraising event – it’s helped build a national movement that encourages men to speak openly about their health and seek help sooner. We are incredibly grateful to Hollard and every participant whose courage and commitment enable CANSA to continue providing awareness, early detection, screening and support services to men across South Africa.”

The event returns to Zoo Lake in Johannesburg on Friday, 23 October at 3pm with participants elsewhere able to register and run in their own neighbourhoods, workplaces, schools or universities anywhere in the country.

Registrations for the 2026 Hollard Daredevil Run open from 1 July and tickets will be available from Ticketpro at R200, which includes the courier of a registration pack and a complimentary purple speedo.

For more information, go to www.hollard.co.za/daredevilrun.

Categories : Mental HealthTags :

What Causes Depression? What We Know, Don’t Know and Suspect

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Photo by Sydney Sims on Unsplash

Caroline Gurvich, Monash University; Eveline Mu, Monash University, and Jayashri Kulkarni, Monash University

Depression is a complex and deeply personal experience. While almost everyone has periods of sadness, low mood or grief, depression is different. Major depressive disorder is persistent, interferes with day-to-day activities, and can affect work, life and relationships.

One in five people will experience depression in their lifetime. Women are nearly twice as likely as men to develop it – a disparity that emerges around puberty and persists into adulthood.

But what causes it? The short answer is: many different things.

While there are various theories, we know brain chemistry, genes, hormones, stress, lifestyle and personality can all play a role. How these interact can vary greatly from one person to another.

An imbalance of brain chemicals?

The traditional “monoamine hypothesis” of depression was proposed more than half a century ago, in the 1950s. This theory suggests the root cause of depression is a deficiency in certain brain chemicals (or neurotransmitters) called monoamines – serotonin, dopamine and norepinephrine.

Several antidepressants have been developed based on this. They primarily work by increasing levels of monoamines such as serotonin.

However, it has become clear that the “chemical imbalance” explanation is an oversimplification.

Research over the past few decades has not found consistent evidence that individuals with depression always have lower levels of serotonin, or any single neurotransmitter.

And while antidepressants can increase serotonin levels within hours, improvements in mood typically take days or weeks to emerge. This delay suggests depression cannot be explained by neurotransmitter levels alone.

Current understanding recognises depression as a complex condition influenced by multiple interacting factors, including genetics, trauma, medications, diet, sleep patterns and social interactions.

Genetic factors can increase your risk

According to one 2021 review, around 30 to 50% of the risk someone will develop depression may be inherited.

No single “depression gene” has been found. But large studies have identified over 100 genetic risk markers on chromosomes.

The genetic risk of depression is also thought to be “polygenic”. This means multiple genetic variants (each carrying a small effect) interact and collectively contribute to someone’s genetic risk.

One important and longstanding research question has been whether there is a genetic reason women are more likely than men to develop depression.

In 2025, a large study revealed substantial overlap between men and women’s genetic risk. However, on average, women with depression tend to carry more of the genetic variants linked to depression.

This suggests that there may be a greater genetic risk for depression in women and perhaps a stronger environmental influence on depression risk in men.

Still, carrying a genetic risk does not mean someone will necessarily develop depression. The interplay between genetic and non-genetic factors is complex.

Hormones and biological sex

Hormones – the body’s chemical messengers – also play an important role in mood and wellbeing.

In women, estrogen and progesterone levels naturally fluctuate across different life stages, including the menstrual cycle, pregnancy, the period after childbirth and menopause.

Our 2025 review found some women are more sensitive to these normal hormonal shifts, and more vulnerable to mood disturbances.

For instance, in the premenstrual phase of their cycle, around 8% of women experience a severe depression, with intense mood swings and irritability, called premenstrual dysphoric disorder.

Similarly, the dramatic hormonal changes during pregnancy and after childbirth (combined with sleep loss and stress) can contribute to postnatal depression.

Later in life, fluctuating and falling estrogen levels during the menopause transition years may also increase the risk of developing depressive symptoms or intensify existing ones.

Hormonal contraceptives – which contain synthetic forms of estrogen and progesterone – have also been linked to mood changes and depression symptoms. In fact, these are some of the most common reasons women stop taking them.

These effects appear to depend on the specific type and amount of progesterone used in the formulation.

These findings show how hormones can act as biological triggers, and help explain why women are statistically more likely to experience depression at certain stages of life.

The effect of hormones on depression in men has predominantly focused on the protective role of testosterone, but findings remain inconclusive.

Stress is another important factor

Chronic or repeated stress can have lasting effects on both the brain and body.

When we experience stress, our bodies activate the hypothalamic–pituitary–adrenal (HPA) axis, also known as the “stress-response system”. This helps us cope by maintaining balance in our body – what scientists call physiological homeostasis.

But when stress is constant or overwhelming, this system can become dysregulated. Stressful or traumatic experiences in childhood – such as neglect, abuse or severe adversity – can also disrupt the stress-response system.

As a result, we overproduce the stress hormone cortisol. High or persistent cortisol levels can alter the structure and functioning of key brain areas (the hippocampus and pre-frontal cortex) which are important for regulating mood and memory.

Cortisol can also trigger the release of inflammatory chemicals, which then cross into the brain or influence neural signals, leading to mood changes and depressive symptoms.

Importantly though, not everyone who experiences stressful life events becomes depressed.

Some people may be more vulnerable due to genetic factors, early life adversity or differences in brain chemistry. Others might cope with the same stress without developing depression or other conditions.

Does personality play a role?

Personality traits also influence how people respond to stress and may affect their risk of developing depression.

People who tend to experience anxiety, sadness and self-doubt are more likely to develop depressive symptoms, especially after stressful events. In contrast, traits such as resilience, optimism, and emotional stability seem to protect against depression.

This suggests that personality plays an important role in shaping both vulnerability and resilience to depression.

Lifestyle choices can help lower your risk

These include not smoking, limiting alcohol use, eating a balanced diet, staying physically active, getting enough sleep, maintaining a healthy body weight and having social supports.

Research shows these healthy habits and lifestyle factors can have a protective effect on mental health. They may even reduce the impact of genetic risk factors for depression.

There’s no single cause – and no universal treatment

Depression arises from a mix of factors – biological (genes and hormones), psychological (personality and thoughts) and social (stress and life events).

Treatment options are based on all of these factors, as well as considering how severe the depression is and whether a person has responded to previous treatments.

While science has made some progress in understanding depression, what underpins each person’s experience is unique.

Caroline Gurvich, Associate Professor and Clinical Neuropsychologist, Monash University; Eveline Mu, Research Fellow in Women’s Mental Health, Monash University, and Jayashri Kulkarni, Professor of Psychiatry, Monash University

This article is republished from The Conversation under a Creative Commons license. Read the original article.

Categories : Obstetrics & GynaecologyTags :

Hyperemesis Gravida Linked to Pregnancy, Birth Complications

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Pregnant women with a severe form of nausea face increased risks for several pregnancy and birth complications, according to a new Stanford Medicine study of 2.5 million California births.

The research, published in the American Journal of Epidemiology, is the first large, US population-based study of the dangers of severe pregnancy nausea and vomiting, a condition formally known as hyperemesis gravidarum, or HG.

While most pregnant women – 70% to 80% – experience some nausea, it usually leaves no lasting effects. In contrast, as the new research shows, HG puts a major strain on the 1% to 3% of the pregnancies affected.

“Hyperemesis gravidarum is not just bad morning sickness; it’s severe enough to cause dehydration and significant weight loss,” said lead study author Rebecca Gardner, a Stanford Medicine graduate student in epidemiology and clinical research.

The study’s senior authors are Julia Fridman Simard, ScD, associate professor of epidemiology and population health and of immunology and rheumatology, and Gary Shaw, DrPH, the Rosemarie Hess Professor and a professor of pediatrics.

The research team looked at complications in pregnancies in which the mother was hospitalised for HG, compared with pregnancies without such hospitalisations.

“We found hyperemesis gravidarum was linked to higher risk for preterm birth, anaemia, smaller-than-expected babies, preeclampsia, gestational hypertension and placental abruption,” Gardner said. “Hospitalization for HG really does flag a pregnancy as being at higher risk for a range of serious complications.”

Struggling to get nourishment

Pregnant women with HG experience severe, sustained nausea and vomiting, often continuing throughout their pregnancies. They struggle to eat; stay hydrated; and absorb enough nutrients that play key roles in early pregnancy, such as folate. (Adequate folate intake reduces the risk of certain birth defects.) Women with HG can lose a lot of weight at a time when they should be gaining; one study found that about a quarter of HG patients lost more than 15% of their pre-pregnancy weight.

“We know from other studies that women with HG don’t get as many nutrients,” Gardner said. “This could impair placental development, which we think leads to higher risk for some of the outcomes we looked for, such as preeclampsia and babies being smaller than expected at birth.”

But previous studies examining potential links between HG and poor pregnancy outcomes had weaknesses, Gardner said: Many were small, and nearly all used data from European countries with populations that are less diverse than the U.S. population and that have medical systems structured differently from the U.S. system.

The study examined records for single-baby California births from 2007 to 2011. The researchers had access to demographic information about mothers, pre-pregnancy body mass index and census tract data that was used to calculate each patient’s level of social vulnerability. The researchers also had access to diagnostic codes from patients’ pregnancy and birth medical records.

Of the 2 476 492 births included in the final analysis, 53,681, or 2.2%, were to mothers with HG, meaning they received emergency department or hospital inpatient care for hyperemesis gravidarum.  

Compared with those who were never hospitalised for HG, women with HG had higher risk for preeclampsia, a pregnancy complication that can cause seizures if untreated; gestational hypertension, or high blood pressure in pregnancy; preterm birth, meaning delivery three or more weeks before the due date; babies that were small for their gestational age, meaning they had grown less than expected during foetal development, anaemia, and placental abruption, in which the placenta becomes partly or completely detached from the uterus before delivery.

The increase in relative risk for each complication varied. For instance, after adjusting for possible confounding factors, women with HG were about 18% more likely to have preeclampsia, about 25% more likely to deliver early, about 37% more likely to be anaemic and about 14% more likely to experience a placental abruption than women without HG.

Women who were first hospitalised for HG during the second trimester of pregnancy were more likely to experience complications than those hospitalised during the first trimester, the study found.

A flag for closer monitoring

Guidelines from the American College of Obstetricians and Gynecologists for treating HG changed in 2018, after the data used for this study was collected, Gardner noted. The guidelines now encourage treating pregnancy nausea faster and more aggressively, and two medications are now approved by the US Food and Drug Administration for nausea and vomiting in pregnancy. More research could help clarify the effects of these newer guidelines, Gardner said.

More research could also show whether HG should prompt physicians to offer additional preventive care, such as low-dose aspirin, which is already used to prevent preeclampsia in patients who are at risk for other reasons.

The research team hopes that its findings will motivate physicians and pregnant women to pay closer attention to HG.

“For physicians, I think this data means that pregnancies with HG hospitalisation may warrant closer monitoring for certain complications,” Gardner said.

“Pregnant women need to know that most HG pregnancies still result in healthy outcomes for the mom and baby, but HG does need to be taken seriously,” she said. It’s important to advocate for yourself by asking your doctor if you need more monitoring or anti-nausea medication, Gardner said, adding, “This is not just something to push through.”

Source: Stanford Medicine

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Study Shows AI Can Help Clinicians Identify Brain Tumour Risks

On By ModernMedia

By Katelin Shaft

Mayo Clinic researchers and collaborators have shown that an artificial intelligence (AI) tool can analyse routine pathology slides to help clinicians classify meningiomas, the most common primary brain tumour in adults, and better understand a patient’s risk of tumour recurrence.

The study, published in The Lancet Digital Health, demonstrates that deep learning models can support the extraction of molecular and prognostic information from standard haematoxylin and eosin, or H&E, slides – the same type of tissue images already used in routine clinical care. These insights are typically obtained through DNA methylation profiling, an advanced genetic test which provides valuable diagnostic and prognostic information but can be costly, time-consuming and is unavailable in many hospitals.

“This is one of the many studies where we can harness the strength of digital pathology by capturing the last two decades of genomic and molecular knowledge into AI algorithms,” says Gelareh Zadeh, MD, PhD, chair of the Department of Neurologic Surgery at Mayo Clinic in Rochester and Chief Medical Officer for Mayo Clinic Platform.

Making advanced tumor insights more accessible

Meningiomas can vary widely in behaviour. Some grow slowly and may never return after treatment, while others are more aggressive and more likely to recur. Understanding that risk is critical for patients and care teams deciding whether additional treatment, such as radiation therapy, may be needed after surgery.

Molecular testing can help identify which tumours are more likely to recur and which may respond differently to treatment. But these tests require specialized technology and expertise, limiting access for many patients.

Using tissue samples, pathology images and clinical data from 672 patients, researchers developed and tested AI models designed to help identify patterns linked to a tumour’s biology. Drawing on multiple de-identified datasets, including data resources from Mayo Clinic Platform, the models supported classification of meningioma subtypes and recurrence risk prediction using standard pathology slides that are already part of routine patient care.

The findings suggest that, with further validation, AI-based tools could one day help clinicians obtain more detailed tumour information to inform patient care, without requiring every patient to undergo advanced genetic testing.

Helping guide treatment decisions

For patients with meningiomas, recurrence risk can influence follow-up care, imaging frequency and whether radiation therapy should be considered. The study found that AI-based predictions remained useful even after accounting for traditional clinical factors such as tumour grade, the extent to which surgery was able to remove the tumour and patient age.

Researchers also found that the AI models could identify patterns of tumour heterogeneity – differences within the same tumour – that may help explain why some tumours behave more aggressively or respond differently to treatment.

The researchers note that additional prospective studies are needed before the AI models can be used routinely in clinical care. Still, they say the findings lay the groundwork for more accessible, personalised care for patients with meningiomas – and potentially for similar AI approaches in other cancers.

As with any clinical decision-support tool, the researchers emphasise that these models would require rigorous evaluation, validation and ongoing physician oversight before being considered for routine care. “The aim is to make these algorithms readily and simply accessible for use globally, improving patient care across many healthcare settings,” says Dr Zadeh.

For a complete list of authors, disclosures and funding, review the publication.

Source: Mayo Clinic