Category: Genetics

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How Sex Chromosomes Influence Health Throughout Life

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A new review published in Science brings together growing evidence that the X and Y chromosomes do much more than determining biological sex. They also shape how cells function, age and respond to disease. 

Differences in health between men and women have long been attributed mainly to sex hormones such as estrogen and testosterone. However, genes on the X and Y chromosomes also play a direct role, working both on their own and alongside hormones. 

The review was co-led by University of Arizona Cancer Center physician-scientist Dr. Dan Theodorescu and Dr. Dena B. Dubal of the University of California, San Francisco. It describes how sex chromosomes influence immunity, metabolism, brain aging, cancer and heart disease, and what this could mean for diagnosis, treatment and the design of clinical trials.

“X and Y chromosomes are often thought of as simple determinants for biological sex, but their role in human health is much larger,” said Theodorescu, one of the study’s corresponding authors and Nancy C. and Craig M. Berge Chair and Director of the Cancer Center. “Our review shows that these chromosomes carry genetic instructions that shape how our cells age and how our bodies defend against major diseases throughout our lives.”

The study shows that the genes on the X and Y chromosomes, rather than circulating hormone levels alone, determine disease risk, progression and therapeutic responses across key heath areas including aging, cancer, neurological conditions, immune system functions and cardiometabolic disease.

The review, which evaluated and synthesized existing evidence from human studies, mouse models and genomic technologies, describes several processes inside cells that shape health across the lifespan.

In women, one of the two X chromosomes is largely switched off early in development, but some of its genes stay active and others can switch back on with age, giving female cells extra doses of certain genes. Studies in mice suggest it also matters whether a cell’s active X came from the mother or the father. Men inherit their only X chromosome from their mother, while in women each cell uses either the mother’s or the father’s copy. In mice whose cells relied mostly on the mother’s X, faster brain aging and memory decline was observed. 

With age, some cells lose a sex chromosome. In women, loss of an X is linked to higher leukemia risk, though its broader effects remain largely unknown. In men, loss of the Y, most often measured in blood, is linked to cancers, heart disease, severe infections and Alzheimer’s disease. The loss of these chromosomes is being explored as both a biomarker of and potential contributor to age-related disease.

“When we look inside human cells, we see that X and Y chromosomes are participants in health and disease throughout a person’s life,” said Theodorescu, who is also a professor at the U of A College of Medicine – Tucson. “In cancer, for example, our laboratory has found that tumors that lose the Y chromosome can evade the immune system, yet may respond better to immunotherapy. Understanding this biology could help us tailor treatment.”

The review originated from discussions at the 2025 National institute on Aging Workshop: Sex Differences Impacting Human Health Across the Lifespan, especially with Francesca Duncan of the Northwestern University Feinberg School of Medicine.

“Our hope is that this review will stimulate further investigation and bring greater awareness to the significant potential of studying the X and Y chromosomes in cancer and other diseases, with far-reaching diagnostic and therapeutic implications,” said Theodorescu. “This would help ensure that treatments and diagnostics are tailored to match every patient’s unique profile. When clinical trials are designed to be sex-aware, researchers can turn these cellular differences into personalized medical care.”

Theodorescu’s previous related research focused on how the loss of the Y chromosome in T cells and cancer cells in men gave tumors the ability to evade the immune system, providing an explanation why the loss of the chromosome has been linked to increased mortality from carcinomas. Other recent Theodorescu group research showed how loss of the Y chromosome in normal-appearing tissues acts as an early warning sign and may mark a hidden zone of genetic risk for cancer to develop.

Original written by Phil Villarreal

Source: University of Arizona

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UP Researchers Say SA’s Genetic Diversity is Reshaping the Future of Medicine

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Photo by Sangharsh Lohakare on Unsplash

Being part of a genetically diverse South Africa means recognising that our differences are not obstacles to be managed, but powerful lenses through which we can better understand health and disease. Professor Michael Pepper, Director of the Institute for Cellular and Molecular Medicine at the University of Pretoria, notes that South Africa is uniquely positioned to address this gap.

A patient arrives at a public clinic in Gauteng for diabetes treatment and responds well to standard medication. Her sister is treated for the same condition at a nearby facility, and despite identical diagnoses and treatments, their outcomes diverge sharply. In South Africa’s overstretched health system, such differences are common and point to a deeper issue: how biology is shaped by both genetic inheritance and experience.

South Africa’s diversity is often framed culturally and politically, but it is also biological. The population reflects some of the oldest human lineages, shaped by centuries of migration and admixture across African, European, Asian and other ancestries. This genetic variation is further shaped by unequal exposure to environmental and social factors, such as nutrition, infectious disease, pollution and access to healthcare, all of which influence health outcomes.

Much of modern biomedical knowledge is based on studies conducted in relatively genetically homogeneous populations in Europe and North America. While these have enabled major medical advances, findings do not always translate directly to South African contexts. Genetic risk variants and treatment responses observed in one population may differ in another, highlighting a gap between global knowledge and local reality.

“Our genetic diversity allows researchers to observe how the manifestation of diseases such as cancer, hypertension, diabetes and HIV is the result of multiple biological determinants, rather than a single one,” says Prof Pepper.

This has practical implications. South Africa faces a dual burden of infectious diseases like HIV and tuberculosis alongside rising non-communicable diseases such as cancer, cardiovascular disease and metabolic disorders. Many patients experience both, often compounded by socio-economic inequality. Understanding how genetics interacts with the environment (including infection) is essential for effective disease management.

At research centres such as the Institute for Cellular and Molecular Medicine, scientists are studying how genetic variation influences immune responses, cellular repair mechanisms and treatment outcomes.

“The aim is to advance precision medicine that works across diverse real-world populations, not just narrow genetic groups,” Prof Pepper says.

South Africa’s diversity also has global scientific value. Findings from its population can reveal disease mechanisms that remain hidden in more genetically uniform settings. In this way, local diversity becomes a source of international scientific insight and the common good.

Yet the impact of this research depends on inclusion. When diverse students, clinicians and researchers participate in science, the questions asked and interpretations made become more grounded in real-world contexts. This shapes not only what science discovers, but who it ultimately serves.

Why this research matters

South Africa’s healthcare system remains under strain, facing deep inequities and a growing burden of chronic disease. Yet within its population lies an underused scientific advantage: the ability to illuminate how disease truly behaves across human diversity. Recognising this does not simplify the country’s healthcare challenges, but it does offer a clearer lens through which to address them. In a system striving for equity, that perspective is not optional. It may be one of the most powerful tools we have. This research helps to address UN SDG 3: Good Health and Wellbeing.

This article first appeared in RE.SEARCH 15: Belonging. Read more here.

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World First Trial of In Vivo CRISPR Gene Therapy Successfully Completed

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Photo by Furkan İnce

Researchers from Amsterdam UMC, in collaboration with other hospitals, have successfully completed the first-ever Phase 3 study of an in vivo CRISPR therapy. In this large-scale, double-blind Phase 3 trial, 80 patients with hereditary angioedema were randomised to receive either the CRISPR therapy or a placebo. CRISPR therapy is a medical technique that allows doctors to precisely modify errors in cellular DNA to treat specific hereditary diseases.

Danny Cohn, leader of the research, is highly enthusiastic: “The study demonstrates that the therapy is genuinely effective and safe. This confirmation is exactly what regulatory authorities need to approve the very first in vivo CRISPR gene editing treatment for the market.”

The findings were presented today at the annual congress of the European Academy of Allergy and Clinical Immunology in Istanbul, and simultaneously published in The New England Journal of Medicine.

Significant Reduction in Attacks

The study evaluates a one-time CRISPR treatment for hereditary angioedema, a rare disorder characterised by recurrent and potentially dangerous swelling. Internist Danny Cohn explains: “This is the first time CRISPR therapy has been applied in vivo within a large, double-blind, international Phase 3 trial. A total of 80 patients were randomised to receive either lonvoguran-ziclumeran or a placebo.”

The primary outcome was measured between weeks 5 and 28 following a single intravenous infusion. The results heavily favoured the active treatment, showing an 87% relative reduction in attacks. Furthermore, 62% of treated patients remained attack-free without any maintenance therapy, compared to just 11% in the placebo group. Key secondary outcomes were also strongly positive: the need for on-demand treatment fell by 89%, moderate-to-severe attacks decreased by 91%, and quality-of-life scores showed a distinctly greater improvement compared to the placebo.

Cohn notes that trial participants tended to take medication at the earliest sign of a potential swelling. “Consequently, we cannot be certain if all reported swellings were actual attacks,” Cohn says. “We anticipate that the number of completely attack-free patients will rise now that participants know they received the active treatment. This awareness will likely give them the confidence to forego on-demand therapy.”

A Single, One-Time Treatment

The implications for patients are profound, suggesting that a severe, chronic condition can potentially be managed long-term with a single intervention. Cohn: “Patients may no longer need continuous preventative medication, sparing them from the associated side effects. Furthermore, this can alleviate treatment burden, reduce drug dependency, lessen the anxiety of future attacks, and ultimately improve quality of life.”

Paving the Way for Future Genetic Therapies

In terms of safety, the treatment appears to be well-tolerated. The most frequent side effects were mild infusion-related reactions, headache, fatigue, and back pain, all of which resolved quickly. No serious adverse events were reported in the treatment group.

“This makes the results exceptionally relevant; it is not just effective, it is safe,” Cohn emphasises. He adds that data from 37 participants from the Phase 1 and 2 trials show the treatment remains just as effective and safe four years after administration. “This study opens doors to in vivo CRISPR treatments for patients with other hereditary disorders. Inserting, deleting, or repairing a gene – it is all possible with CRISPR technology.”

Source: Amsterdam UMC

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Neanderthal Gene Variant May Increase Muscle Mass in Modern Humans

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Photo by John Arano on Unsplash

A gene variant inherited by modern humans from Neanderthals causes the body’s cells to respond more strongly to growth hormone. In a study published in Current Biology, researchers at Karolinska Institutet and several international universities report that adults who carry the variant have, on average, slightly greater muscle mass.

Neanderthals were generally more robustly built than people are today. The researchers examined a variant of the growth hormone receptor that modern humans inherited from Neanderthals around 47 000 years ago. Today, the variant is found mainly in South and East Asia, and in some populations in these regions it is carried by up to 24 per cent of people.

In laboratory experiments, the researchers studied two changes unique to the Neanderthal receptor. When stimulated with growth hormone, cells carrying the Neanderthal variant grew 40 per cent more than cells with the most common modern human version of the receptor.

“It is fascinating that a gene variant inherited from Neanderthals still affects people today. But this gene is only one of many factors that influence the body’s growth and shape,” says Hugo Zeberg, who led the study and is a senior lecturer at the Department of Physiology and Pharmacology, Karolinska Institutet.

The researchers analysed data from just over 1.1 million adults. The variant was associated with an average increase in body weight of 285 grams, almost all of which was due to greater muscle mass. By contrast, no effect was seen in more than 6,000 children aged 11 or younger, suggesting that the difference may emerge later, possibly during puberty.

“As someone who does CrossFit, I found it fun to link Neanderthal genetics to muscle mass. But not even a Neanderthal growth hormone receptor can replace training,” says co-author Miriam Berreiter of the same department.

Carriers of the variant also had slightly shorter tooth roots and subtle differences in jaw shape, features that resemble those seen in Neanderthals.

Source: Karolinska Institutet

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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

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Gene Analysis Predicts Breast Cancer Response to Chemotherapy

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Photo by National Cancer Institute on Unsplash

A new study from Karolinska Institutet shows that gene analysis of breast cancer tumours can identify patients who do not benefit from chemotherapy given before surgery. The findings, published in the journal Nature Communications, could in the long term contribute to more personalised treatment.

The study included 179 patients with hormone dependent, HER2 negative breast cancer who took part in the Swedish PREDIX LumB trial. Before surgery, all patients received both treatments, but in different sequences. They were given either chemotherapy followed by hormone blocking therapy together with the drug palbociclib, which slows the division of cancer cells, or the reverse sequence.

When the researchers analysed the results, they found that the treatments led to similar reductions in tumour size overall. Survival was also similar regardless of whether treatment started with chemotherapy or with palbociclib and hormone blocking therapy.

Not all tumours responded

At the same time, the analyses showed that there was a subgroup of tumours with a poorer response to chemotherapy but a better response to palbociclib in combination with hormone‑blocking therapy.

To understand why some tumours did not respond to chemotherapy, the researchers analysed tumour gene expression, how active different genes are in the tumour, in tissue samples taken before treatment started. Based on these analyses, they developed a model called CDKPredX, which can identify tumours that respond poorly to chemotherapy but better to palbociclib combined with hormone blocking therapy.

“Today, we lack reliable ways to determine in advance which patients will actually benefit from chemotherapy before surgery. Our results show that tumour gene expression can provide important information in this respect,” says first author Alexios Matikas, docent at the Department of Oncology‑Pathology, Karolinska Institutet. 

The model is based on patterns of gene expression in the tumour, including genes involved in cell division, hormone signalling and the immune system. When the researchers tested the model in other patient groups, they observed similar patterns.

Further studies are needed

“In the longer term, this type of analysis could help patients avoid treatments that do not benefit them, such as chemotherapy, and instead receive treatment that has a better chance of working. At the same time, further studies are needed before the method can be used in clinical practice,” says senior author Theodoros Foukakis, professor at the same department. 

The researchers emphasise that the study is exploratory and that the genetic analysis is not yet ready for clinical use. Nevertheless, the results provide new insights into why different tumours respond differently to treatment.

Source: Karolinska Institutet

Categories : Genetics UrologyTags :

Kidney Disease is Growing in Africa: Big New Study Casts Light on Genetic Risk Factors

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Chronic kidney disease (CKD). Credit: Scientific Animations CC4.0

Segun Fatumo, Queen Mary University of London

Every minute your kidneys are hard at work, filtering around 200 litres of blood, removing waste, balancing salts and fluids, and regulating blood pressure. This happens without any conscious effort on your part.

But when your kidneys begin to fail, the consequences are devastating, including fatigue, fluid buildup and heart complications. Some people eventually need dialysis or a transplant to stay alive.

Kidney disease is one of the fastest-growing causes of death across the world. Around 850 million people are living with some form of it, more than the combined number of people affected by diabetes and cancer. Chronic kidney disease – when your kidneys slowly lose the ability to do their job – causes approximately 1.5 million deaths each year globally and that toll is rising.

But kidney disease develops silently, with few symptoms until it is already severe.

And the burden is not shared equally. People of African ancestry are four times more likely to develop the most severe form of kidney failure than people of European ancestry. In sub-Saharan Africa, rates of high blood pressure and type 2 diabetes are rising too. Both are leading drivers of kidney damage. Around 30% of adults in sub-Saharan Africa have high blood pressure, and 25 million (one in 20 adults) have diabetes) – mostly undiagnosed and untreated.

Sub-Saharan Africa has lower numbers of kidney specialists, dialysis facilities and transplant services per capita than the rest of the world. Africa as a whole has fewer than one nephrologist per million people. In some African countries there are no kidney specialists at all. The global median is around 10 per million. In high-income countries the figure reaches 23 per million. For most Africans who reach kidney failure, there is simply no treatment available.

Identifying who is at risk before their kidneys fail is therefore vital.

Our recently published research fills a big gap here. We are members of the KidneyGenAfrica consortium, a pan-African partnership that aims to deliver research and training excellence in genomics of kidney disease.

We found new genetic variants that point to kidney disease risk in African populations. And we uncovered differences between the genetic risks faced by people living in Africa, on one hand, and people of African descent living in the North America and Europe, on the other.

This shows how important it is for medicine to be based on relevant research.

Understanding kidney disease

Kidney disease does not appear suddenly. It often develops gradually, shaped by a combination of factors. Some people carry genetic variants, small differences in their DNA, that make their kidneys more susceptible to damage.

Others face environmental risks such as high-salt diets, uncontrolled high blood pressure or diabetes infections. The use of herbal medicines, contaminated water and environmental toxins are risks too.

In most cases, it is the combinations of these factors that determine who gets sick and how quickly. But until recently, African populations had barely featured in the scientific conversation about this. Africa, home to the most genetically diverse human populations on Earth, have been represented in only a small fraction of the world’s genomic research.

That is beginning to change.

Large genetic study of Africans

We analysed genomic data from about 26,000 individuals across eastern, western and southern Africa, and around 81,000 individuals of African ancestry living elsewhere. It’s the largest genetic study of kidney function in continental Africans ever conducted.

Our study sheds new light on the genetics of chronic kidney disease across diverse African populations. It will also support future work aimed at improving prevention, diagnosis and treatment of kidney disease among these populations and worldwide.

The team used a method called a genome-wide association study, which scans the entire human genetic code to find variants linked to a particular trait or disease. Here, the trait of interest was estimated glomerular filtration rate, a standard blood test result that measures how efficiently the kidneys are filtering waste. A lower score signals poorer kidney function and higher risk of disease.

Analysing continental African populations alone, the study identified four relevant locations on genes, including two that hadn’t been reported before.

Adding African-ancestry populations across the diaspora, the number rose to 19 locations, three of them new. Four of these genetic locations were pinpointed with high precision. This means the team was able to identify the specific genetic variant most likely driving the effect, rather than simply flagging a region of the genome where something relevant was happening.

Each newly discovered location is now a potential target for future drugs or diagnostic tools.

The study also examined polygenic scores, which are tools that estimate a person’s overall risk of developing a disease. A key finding here was that scores built using data from genetically similar African populations performed better than scores derived from larger but genetically distant datasets.

This matters enormously for medicine in Africa: the science only works if the reference data matches the population it is meant to serve.

A gene that behaves differently on either side of the Atlantic

An important finding from the study concerns a gene called APOL1. Two variants of the APOL1 gene, known as G1 and G2, increase the risk of several serious forms of kidney disease in African Americans. It was widely assumed that the same risk would apply equally to people living on the African continent.

However, the data suggests otherwise. In continental Africa, these high-risk APOL1 variants occur at lower frequencies (and vary across regions of Africa). Their association with reduced kidney function is markedly weaker than in the African diaspora.

The same gene appears to behave differently depending on where a person lives and what population they descend from.

The finding matters for drug development. Clinical trials for kidney disease treatments must include people living in Africa and not just people of African descent living elsewhere.

What must happen now

Several things must follow from this research if it is to benefit people’s health:

  • African health systems must invest in early kidney disease detection. Simple, affordable blood and urine tests can identify kidney damage when lifestyle changes and medication can still make a difference. Genetic risk tools can help identify who needs screening most urgently.
  • Pharmaceutical companies must include continental African populations in their clinical trials.
  • The global research community must continue investing in African genomic infrastructure – research cohorts and large groups of consenting participants whose genetic and health data are collected and stored for analysis.

This research is evidence that African scientists, working with African communities, can generate knowledge that shifts the global picture. The world’s understanding of one of its most urgent health challenges will be sharper for it.

Segun Fatumo, Professor and Chair of Genomic Diversity, Queen Mary University of London

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

Categories : GeneticsTags :

Do Certain piRNAs Affect Longevity?

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Photo by Sangharsh Lohakare on Unsplash

Research in Aging Cell indicates that blood levels of particular small non-coding RNAs, which regulate gene expression, may influence how long a person lives.

Investigators evaluated 828 small non-coding RNAs in blood samples from 1,271 community-dwelling older adults 71 years of age and older who were participating in an ongoing study. They then used machine learning to develop a model that could predict survival at 2, 5, and 10 years based on baseline small non-coding RNAs, age, and clinical variables (demographics, lifestyle, mood, physical function, standard clinical laboratory tests, lipid and metabolite levels, and medical conditions).

The test worked especially well for predicting survival over the next 2 years. “One surprising finding involved a group of small non-coding RNA molecules called piRNAs”, said co–corresponding author Virginia Byers Kraus, MD, PhD, of the Duke Molecular Physiology Institute. Scientists have long known that piRNAs help protect DNA in reproductive cells, but their role in the rest of the body is still a mystery. In this study, nine piRNAs, all reduced in longer-lived individuals, were identified as potential therapeutic targets to prolong longevity.

“These results suggest that simple blood tests measuring piRNAs might one day help doctors better understand health and aging – and possibly even guide new treatments to help people live longer, healthier lives,” said Dr Byers Kraus.

Source: Wiley

Categories : General Interest GeneticsTags :

Rare Disease Day 2026 Puts Equity for Patients in the Spotlight

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Photo by Cottonbro on Pexels

Rare diseases each affect relatively small numbers of people, but collectively they impact more than 300 million individuals worldwide across over 7000 known conditions, with 70% of these starting in childhood.1 For many patients and families, the reality is often long diagnostic journeys, uncertainty and ongoing challenges in accessing treatment and support.

This year’s global Rare Disease Day theme: “More Than You Can Imagine,” highlights the often unseen challenges faced by rare disease communities and the need for more equitable healthcare systems for people living with rare conditions worldwide.

Ahead of Rare Disease Day 2026, observed globally on 28 February, Sanofi South Africa is reaffirming its commitment to improving outcomes for people living with rare diseases through ongoing research, collaboration to improve access to treatment, and engagement in policy and advocacy discussions that support patients and caregivers.

According to Monique Nel, Medical Adviser for Rare Diseases at Sanofi South Africa, rare diseases demand a long-term mindset. “Patient populations may be small, but that makes every data point even more valuable. Building evidence takes time, yet each insight brings us closer to understanding these conditions and the unique needs of patients – enabling us to deliver better care.”

Research remains essential in rare diseases, where evidence is often limited and every patient experience matters. Global disease registries, such as the Global Gaucher Registry, allow clinicians and researchers to collect real-world data that deepens understanding of how conditions present across different regions and healthcare settings. Participation from South African patients helps ensure local experiences are reflected in global research.

“For me, equity starts with representation,” says Nel. “Patients are not the same everywhere. Genetics, environment, and healthcare systems all shape how a disease presents and progresses. If our research doesn’t reflect the diversity of the populations we serve, we risk missing a critical part of the picture.”

From scientific progress to real-world access

Innovation can transform outcomes for people living with rare diseases, but scientific progress only matters if patients can actually reach and stay on treatment.

Rare disease therapies are often complex and highly specialised, which means access depends on collaboration across clinicians, funders, policymakers and industry. The focus is increasingly on sustainable solutions that support affordability, continuity of care and long-term patient support.

“Access isn’t only about availability,” says Nel. “It’s also about what happens after treatment starts – whether patients can continue therapy, feel supported, and navigate their care with confidence.”

Strengthening policy and advocacy

Policy and legislative frameworks play an important role in shaping diagnosis, treatment pathways and long-term patient support. Ongoing engagement between stakeholders is essential to strengthen South Africa’s rare disease landscape and ensure decisions reflect real patient needs.

Patient voices are becoming increasingly important in policy and reimbursement discussions, offering insights that clinical data alone cannot provide.

“Patients and caregivers become experts through their own lived experiences,” says Nel. “Listening to their voices is what enables us to design better systems and ultimately deliver better care.”

“When we say rare diseases impact lives more than you can imagine, we’re talking about the invisible barriers patients face before they ever receive care,” says Nel. “Healthcare systems matter because they determine how quickly families find answers, how care is funded, and whether patients are truly included.”

She notes that South Africa’s constitutional commitment to healthcare, together with opportunities created through National Health Insurance, presents an important moment to strengthen support for rare disease communities.

South Africa’s support for the May 2025 rare diseases resolution at the World Health Assembly followed advocacy by Rare Diseases South Africa, which engaged the Department of Health and Health Minister Aaron Motsoaledi, calling for rare diseases to be recognised as a national health priority.

“Progress comes from sustained advocacy, partnership and action. Strong policy needs partners who understand that acting for patients means helping build systems that work for them,” says Nel.

Working with patient communities

As part of Rare Disease Day 2026, Sanofi South Africa is once again partnering with Rare Diseases South Africa (RDSA) to raise awareness around rare disease equity and amplify the lived experiences of patients and families. The collaboration focuses on education, awareness and encouraging meaningful dialogue around patient needs.

“Healthcare is a constitutional right in South Africa,” says Kelly du Plessis, CEO & Founder of Rare Diseases South Africa. “The opportunity now is to ensure rare disease patients are fully included in that promise. Equity means policies that don’t simply acknowledge rare diseases but actively prioritise them.”

RDSA remains an independent patient advocacy organisation, while the partnership supports awareness initiatives and responsible collaboration that strengthens patient-centred advocacy.

“We remain committed to working for patients, but we’ve learned to do that more effectively by collaborating with patient societies,” says Nel. “That partnership approach is essential. Equity means ensuring every patient is heard, every voice contributes, and every partnership has the opportunity to drive better care.”

The partnership with RDSA aims to:

  • Increase understanding of rare diseases and their impact
  • Support patient-centred advocacy and awareness
  • Encourage informed dialogue across healthcare stakeholders
  • Highlight the importance of equity in research, access and policy

Both organisations agree that meaningful progress in rare diseases depends on collective action across patients, healthcare professionals, policymakers and industry partners.

Reference:
1. World Health Organization (WHO). Rare diseases: a global health priority for equity and inclusion. Seventy-eighth World Health Assembly, Draft Resolution A78/51, Fifth report of Committee A, 24 May 2025. Available from: https://apps.who.int/gb/ebwha/pdf_files/WHA78/A78_51-en.pdf

Categories : Cardiovascular Disease GeneticsTags :

Study Identifies Risk Genes for Bicuspid Aortic Valve

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Source: CCO

Bicuspid aortic valve (BAV) is a common congenital heart defect where the aortic valve has two leaflets (cusps) instead of the usual three, resulting in abnormal blood flow and development of aortic valve diseases such as aortic stenosis and incompetence. In addition, the BAV is sometimes accompanied by development of an enlarged aorta – the main artery in the body.  Both the bicuspid aortic valve and an enlarged aorta often require cardiac surgery, usually after the age of 50 years. Despite this, only a limited number of genes have been associated with the disease and the molecular mechanisms remain unexplained in most cases.

In a new study aimed to further understand the genetic architecture of BAV, an international group of researchers led by Boston University Chobanian & Avedisian School of Medicine and Laval University in Quebec City, Canada, along with the Bicuspid Aortic Valve Consortium, the Genetic Aortic Network (a division of The Marfan Foundation) and participating Institutions, believe the condition is strongly influenced by the cumulative effect of variation in many different genes(polygenic contribution).

“We found that variation in 36 genetic regions increases the risk of a bicuspid aortic valve. These findings support the notion that bicuspid aortic valve disease is an inherited disease caused by a combination of many common genetic variants, not merely a single mutation in a single gene,” explains co-corresponding author Simon C. Body, MD, MPH, professor of anesthesiology at Boston University Chobanian & Avedisian School of Medicine.

From a group of 65 677 US, Canadian and European participants, the researchers performed a genome-wide association study (GWAS) meta-analysis on 9631 individuals with BAV. After identifying general genetic regions through GWAS, they used RNA sequencing to study gene activity (expression levels) in specific, relevant tissues.

They observed 36 regions with genetic variants associated with a bicuspid aortic valve, four of which had been previously identified. They prioritised 55 genes in these regions based upon expression in human aortic valve tissues from individuals who had surgery, then tested the effect of changing four selected genes, upon heart development in an experimental model, demonstrating that all four altered genes had effects on development of the valve. The researchers also looked at the effect of these genes in a statistical model finding a three-fold increase in risk for a BAV in individuals in the top 10% and association with aortic aneurysmal disease, a bulge in the aortic wall that can rupture. Some of these 36 genetic regions are also involved in aortic stenosis and aortic aneurysm development, which could lead to better prediction of these complications in people with BAV and point to biological mechanisms responsible for these joint effects.

According to the researchers, while these findings support the notion that BAV is an inherited disease, the findings do not currently support genetic testing, either prenatally or later in life, for predicting a bicuspid aortic valve.  “Echocardiography and other imaging modalities remain the gold standard for diagnosis.  In addition, the identified heritability supports performing screening echocardiography on first-degree relatives of a person with an identified bicuspid valve,” adds Body.

These findings appear online in the journal Circulation.

Source: University of Boston