For the first time, researchers from the Queensland Brain Institute have proven that a mild stress is enough to trigger post-traumatic stress disorder (PTSD) in mouse models of autism spectrum disorder (ASD).
Dr Shaam Al Abed and Dr Nathalie Dehorter have demonstrated that the two disorders share a reciprocal relationship, identifying a predisposition to PTSD in ASD, and discovering that core autism traits are worsened when traumatic memories are formed.
While recent studies in humans have highlighted the co-occurrence of ASD and PTSD, the link between the disorders is often overlooked and remains poorly understood.
“We set out to determine the occurrence of traumatic stress in ASD, and to understand the neurobiological mechanisms underlying the reported predisposition to PTSD,” said Dr Al Abed.
ASD and PTSD share common features, including impaired emotional regulation, altered explicit memory, and difficulties with fear conditioning.
“We demonstrated in four mouse models of ASD that a single mild stress can form a traumatic memory.”
“In a control population, on the other hand, PTSD is triggered by extreme stress.”
“We wanted to understand this unique perception of stress in ASD that leads to the formation of PTSD.”

The prefrontal cortex is a highly specialised area in the front part of the brain that plays a crucial role in social cognition and behaviour.
According to Dr Dehorter, dysfunction in the prefrontal cortex has been linked to both disorders.
“We identified specific cortical circuit alterations that trigger the switch between the formation of a normal memory and a PTSD-like memory during stress,” said Dr Dehorter.
The prefrontal cortex contains specialised cells called interneurons, which are crucial for adapted fear memorisation and normal sensory function and play a key role in stress-related disorders.
The formation of PTSD-like memories is triggered by over activation of the prefrontal cortex that is present in ASD and throws out the balance of these cortical circuits.
The capabilities of interneurons to respond to stress is altered in ASD. This alteration worsens autism traits following the formation of a traumatic memory.

“We didn’t anticipate that forming a traumatic memory would aggravate the social and behavioural difficulties in ASD.”
“What is really promising is once the traumatic memories are successfully recontextualised using behavioural therapy, the ASD traits that were worsened following the stress, are dramatically improved.”
This discovery validates the assumption that the two disorders are closely linked and could change the way clinicians treat their patients.
An awareness of the PTSD predisposition and the success of behavioural therapy in treating it could shape the approach to managing stress in ASD.
This paper was published in iScience.

A research team led by Director KIM Eunjoon of the Center for Synaptic Brain Dysfunctions and Director KIM Seong-Gi of the Center for Neuroscience Imaging Research within the Institute for Basic Science (IBS) has identified the primary cause of sensory hypersensitivity related to autism spectrum disorders (ASD).
Autism affects approximately 1 in 36 individuals and is marked by significant challenges in social interaction and communication. Around 90% of autism patients also suffer from abnormal sensory hypersensitivity that deeply affects their daily functioning. This hypersensitivity results in exaggerated or dampened responses to common sensory stimuli such as sound, light, and touch, which leads to considerable stress and further social withdrawal. The precise brain region responsible for this sensory dysfunction is unknown, which hinders treatment efforts.
The IBS researchers studied an ASD mouse model with a mutation in the Grin2b gene, which encodes the GluN2B subunit of NMDA receptors. NMDA receptors, a type of glutamate receptor in the brain, have garnered attention in the context of autism due to their crucial role in synaptic transmission and neural plasticity. It was hypothesized that the Grin2b gene mutation in mice would induce ASD-like phenotypes, including sensory abnormalities, and that certain brain mechanisms may play important roles.
The researchers monitored neural activity and functional connectivity in the brains of these mice using activity-dependent markers and functional magnetic resonance imaging (fMRI). In these mice, the researchers discovered increased neuronal activity in the anterior cingulate cortex (ACC). The ACC is one of the higher-order cortical regions that have been extensively studied for cognitive and emotional brain functions, but have been understudied for brain disease-related sensory abnormalities.
Interestingly, when the hyperactivity of ACC neurons was inhibited using chemogenetic methods, sensory hypersensitivity were normalized, indicating the pivotal role of ACC hyperactivity in sensory hypersensitivity associated with autism.
Director KIM Eunjoon states, “This new research demonstrates the involvement of the anterior cingulate cortex (ACC), which has been known for its deep association with cognitive and social functions, in sensory hypersensitivity in autism.”
The hyperactivity of the ACC was also associated with the enhanced functional connectivity between the ACC and other brain areas. It is believed both hyperactivity and the hyperconnectivity of the ACC with various other brain regions are involved with sensory hypersensitivity in Grin2b-mutant mice.
Director KIM Seong-Gi states, “Past studies attributed peripheral neurons or primary cortical areas to be important for ASD-related sensory hypersensitivity. These studies often only focused on the activity of a single brain region. In contrast, our study investigates not only the activity of ACC but also the brain-wide hyperconnectivity between the ACC and various cortical/subcortical brain regions, which gives us a more complete picture of the brain.”
The researchers plan to study the detailed mechanisms underlying the increased excitatory synaptic activity and neuronal hyperconnectivity. They suspect that the lack of Grin2b expression may inhibit the normal process of weakening and pruning synapses that are less active so that relatively more active synapses can participate in refining neural circuits in an activity-dependent manner. Other areas of research interest is studying the role of ACC in other mouse models of ASD.
This study was published in the journal Molecular Psychiatry.

The fluidic system can modulate fluid compositions via spatially-different reactions between fluids and channel walls, something that has not yet been realised in traditional fluidic systems. This work was conducted by the research team of Professor Anderson Ho Cheung Shum’s Microfluidics and Soft Matter Team in the Department of Mechanical Engineering of the Faculty of Engineering. This discovery has been published in Nature Communications, titled “Vascular network-inspired fluidic system (VasFluidics) with spatially functionalisable membranous walls.”
“The brilliant control over blood compositions in vessels is remarkable and essential, inspiring us to think about how to design new fluidic systems,” shared Yafeng Yu, the first author of the research project.
The blood vascular network, a natural fluidic system, inspired the research. “Guided” by the vascular network, Professor Shum’s team developed VasFluidics, a fluidic system with functionalisable membrane walls. Similar to blood vessel walls, the walls of VasFluidic channels are thin, soft, and capable of changing liquid compositions via physical or chemical means.
This study demonstrates the power of VasFluidics in fluid processing. After separated channel regions are deposited with solutions or coated with enzymes, some regions of the VasFluidic channels physically allow specific molecules to pass through the channel walls, while some chemically change liquid compositions. The results are reminiscent of glucose adsorption and metabolism processes in the human body.
“VasFluidics is quite different from the traditional fluidic systems. Channel walls of traditional devices are typically impermeable, and cannot work like real tissues to ‘communicate’ with fluids inside or outside the channel for fluid modulation.” Yafeng Yu explained.
The reported technique combines 3D printing and self-assembly of soft materials. The research group prints one liquid within another immiscible liquid, assembling soft membranes on the liquid-liquid interface. Besides microfluidics-related research, Professor Shum’s group also focuses on soft material assembly on the liquid interface. The theoretical and experimental basis of soft materials in their previous research paves the way for fabricating VasFluidic devices.
“VasFluidics has promising applications, especially for designing microtubule structures and bioinks. So it has great potential to be combined with cell engineering to develop artificial blood vessel models, which are expected to be used in biomedical applications, such as organ-on-chip and organoids,” said Dr Yi Pan, a contributor to this research, previously a PhD student in Professor Shum’s group, and currently an Associate Professor of the College of Medicine at the Southwest Jiaotong University.

Dr Wei Guo, another contributor to this research and a Research Assistant Professor in Professor Shum’s group, added: “Apart from the scientific merits and potential biomedical applications of this work, it also sparks our imagination. The vascular tissue of the human body, an efficient transport system, has been refined over millions of years of evolution. By demonstrating the potential of synthetic systems like VasFluidics to reconstruct vascular tissue, this research represents a substantial advancement in our efforts to mimic and harness the extraordinary capabilities of nature’s most precise and efficient systems.”
Professor Shum’s team has been focusing on cutting-edge microfluidic techniques to push the envelope in precise (bio)liquid control and efficient (bio)liquid sample analysis. Despite their progress in microfluidics-assisted biomedical applications, the research team refused to just settle on the traditional setups. By exploring and realising the potential of microfluidics for more efficient biofluid processing and analysis, the team realises that new paradigms in designing and fabricating fluidic devices are needed.
“Our long-term goal is to utilise microfluidics to develop ultra-sensitive analysis of human body fluids, to assist precision medicine against diseases, and to benefit human health.” Professor Shum said.
Professor Shum foresees that the VasFluidics system will pioneer biomimetic platforms with complex fluid manipulation. “Potential biomedical applications are boundless. Examples are in-vitro modelling of biological fluid mechanics, biomolecule synthesis, drug screening, and disease modelling in organ-on-chips.” He said.

Understanding how genes are regulated at the molecular level is a central challenge in modern biology. This complex mechanism is mainly driven by the interaction between proteins called transcription factors, DNA regulatory regions, and epigenetic modifications — chemical alterations that change chromatin structure. The set of epigenetic modifications of a cell’s genome is referred to as the epigenome.
In a study just published in Nature Genetics, scientists from the Hackett Group at EMBL Rome have developed a modular epigenome editing platform — a system to program epigenetic modifications at any location in the genome. The system allows scientists to study the impact of each chromatin modification on transcription, the mechanism by which genes are copied into mRNA to drive protein synthesis.
Chromatin modifications are thought to contribute to the regulation of key biological processes such as development, response to environmental signals, and disease.
To understand the effects of specific chromatin marks on gene regulation, previous studies have mapped their distribution in the genomes of healthy and diseased cell types. By combining this data with gene expression analysis and the known effects of perturbing specific genes, scientists have ascribed functions to such chromatin marks.
However, the causal relationship between chromatin marks and gene regulation has proved difficult to determine. The challenge lies in dissecting the individual contributions of the many complex factors involved in such regulation — chromatin marks, transcription factors, and regulatory DNA sequences.
Scientists from the Hackett Group developed a modular epigenome editing system to precisely program nine biologically important chromatin marks at any desired region in the genome. The system is based on CRISPR — a widely used genome editing technology that allows researchers to make alterations in specific DNA locations with high precision and accuracy.
Such precise perturbations enabled them to carefully dissect cause-and-consequence relationships between chromatin marks and their biological effects. The scientists also designed and employed a ‘reporter system’, which allowed them to measure changes in gene expression at single-cell level and to understand how changes in the DNA sequence influence the impact of each chromatin mark. Their results reveal the causal roles of a range of important chromatin marks in gene regulation.
For example, the researchers found a new role for H3K4me3, a chromatin mark that was previously believed to be a result of transcription. They observed that H3K4me3 can actually increase transcription by itself if artificially added to specific DNA locations. “This was an extremely exciting and unexpected result that went against all our expectations,” said Cristina Policarpi, postdoc in the Hackett Group and leading scientist of the study. “Our data point towards a complex regulatory network, in which multiple governing factors interact to modulate the levels of gene expression in a given cell. These factors include the pre-existing structure of the chromatin, the underlying DNA sequence, and the location in the genome.”
Hackett and colleagues are currently exploring avenues to leverage this technology through a promising start-up venture. The next step will be to confirm and expand these conclusions by targeting genes across different cell types and at scale. How chromatin marks influence transcription across the diversity of genes and downstream mechanisms, also remains to be clarified.
“Our modular epigenetic editing toolkit constitutes a new experimental approach to dissect the reciprocal relationships between the genome and epigenome,” said Jamie Hackett, Group Leader at EMBL Rome. “The system could be used in the future to more precisely understand the importance of epigenomic changes in influencing gene activity during development and in human disease. On the other hand, the technology also unlocks the ability to program desired gene expression levels in a highly tunable manner. This is an exciting avenue for precision health applications and may prove useful in disease settings.”

Aging clocks can measure the biological age of humans with high precision. Biological age can be influenced by environmental factors such as smoking or diet, thus deviating from the chronological age that is calculated using the date of birth. The precision of these aging clocks suggests that the aging process follows a programme. Scientists David Meyer and Professor Dr Björn Schumacher at CECAD, the Cluster of Excellence Cellular Stress Responses in Aging-Associated Diseases of the University of Cologne, have now discovered that aging clocks actually measure the increase in stochastic changes in cells. The study ‘Aging clocks based on accumulating stochastic variation’ has been published in Nature Aging.
“Aging is triggered when the building blocks in our cells become damaged. Where this damage occurs is for the most part random. Our work combines the accuracy of aging clocks with the accumulation of entirely stochastic changes in our cells,” said Professor Schumacher.
Less checks, more noise
With increasing age, controlling the processes that occur in our cells becomes less effective, resulting in more stochastic results. This is particularly evident in the accumulation of stochastic changes in DNA methylation. Methylation refers to the chemical changes that affect DNA, the genome’s building blocks. These methylation processes are strictly regulated within the body. However, during the course of one’s life, random changes occur in the methylation patterns. The accumulation of variation is a highly accurate indicator of a person’s age.
The loss of control over the cells and the increase in stochastic variation is not restricted to DNA methylation. Meyer and Schumacher demonstrate that the increase in stochastic variations also in the gene activity can be used as an aging clock. “In principle it would be feasible to take this even further, allowing the stochastic variations in any process in the cell to predict age,” Schumacher said. According to the authors, it is above all crucial to ascertain if such aging clocks can show the success of interventions that slow the aging process or harmful factors that accelerate aging.
Using the available datasets, the scientists showed that smoking increases the random changes in humans and that ‘anti-aging’ interventions such as lower calorie intake in mice reduces the variation in methylation patterns. They also showed that the stochastic noise is even reversible by means of reprogramming body cells to stem cells. The scientists compared human fibroblasts from the skin that were reprogrammed into stem cells and as a result of the reprogramming are rejuvenating. The high variation indicative of the age of the body cells was indeed reversed to the low stochastic noise of young stem cells.
Meyer and Schumacher hope that their findings on loss of regulation and the accumulating stochastic variations will lead to new interventions that can tackle the root cause of aging and may even lead to cellular rejuvenation. A target for such interventions could be repairing stochastic changes in DNA or improved control of gene expression.

Published27 minutes agoShareclose panelShare pageCopy linkAbout sharingImage source, Getty ImagesBy Nick TriggleHealth correspondentFive babies have died from whooping cough as cases continue to rise in England, health officials have announced.The UK Health Security Agency (UKHSA) reported 1,319 cases in England in March, after just over 900 in February, making the 2024 total nearly 2,800.It fears it could be a bumper year for the bacterial infection. The last peak year, 2016, saw 5,949 cases in England.The infection can be particularly serious for babies and infants. Half of cases seen so far this year have been in the under-15s, with the highest rates in babies under three months of age.Known as pertussis or “100-day cough”, the infection is a cyclical disease with peaks seen every three to five years. UKHSA has said a steady decline in uptake of the vaccine in pregnant women and children and the very low numbers seen during the pandemic, as happened with other infections because of restrictions and public behaviour, were both factors.The agency said a peak year was therefore overdue and urged families to come forward to get vaccinated if they had not already.’Extremely serious’In September 2023, the number of two-year-olds who completed their routine six-in-one vaccinations, which includes protection against pertussis, was 92.9%, compared with 96.3% in March 2014. Uptake of the maternal pertussis vaccine, offered to women in every pregnancy, also dropped – from more than 70% in September 2017 to about 58% in September 2023.Check if your child has whooping coughDr Gayatri Amirthalingam, from UKHSA, said: “Vaccination remains the best defence against whooping cough and it is vital that pregnant women and young infants receive their vaccines at the right time.”Whopping cough can affect people of all ages, but for very young babies it can be extremely serious.”Our thoughts and condolences are with those families who have so tragically lost their baby.”The first signs of whooping cough are similar to a cold, with a runny nose and sore throat. But after about a week, the infection can develop into coughing bouts that last a few minutes and are typically worse at night. Young babies may also make a distinctive “whoop” or have difficulty breathing after a bout of coughing.The bacteria spread through coughs and sneezes, so experts advise members of a family in which it has been diagnosed to stay at home until three weeks after the symptoms began, or 48 hours after the patient started taking antibiotics.More on this storyWhooping cough cases show sharp risePublished23 JanuaryRelated Internet LinksNHS Whooping CoughThe BBC is not responsible for the content of external sites.

Published21 minutes agoShareclose panelShare pageCopy linkAbout sharingBy Chloe Hayward and Hugh PymHealth producer and health editor, BBC NewsAbout 1,750 people in the UK are living with an undiagnosed hepatitis C infection after being given a transfusion with contaminated blood, according to BBC analysis.The UK government and NHS failed to adequately trace those most at risk of being infected, new documents reveal.Officials slowed detection rates and kept public awareness of the virus low.Up to 27,000 people were exposed to hepatitis C after having blood transfusions in the 1970s, 80s and 90s.The true scale of undiagnosed cases is based on BBC analysis of statistics submitted to the Infected Blood Inquiry by an expert panel, as well as Freedom of Information requests to infected blood support schemes.BBC News can also reveal for the first time how the UK government and the NHS actively tried to limit the public’s awareness of the virus to avoid embarrassing “bottlenecks” at liver units. Testing was limited because of “resource implications for the NHS”. “Raising awareness poses undoubted difficulties for the NHS,” an internal government note from the 1990s says. “In terms of value for money, there may be better candidates for additional resources.” The document has been added to the inquiry’s website.Rather than prioritising care for those harmed by NHS-provided blood, officials squeezed budgets as cost concerns took precedence over patient safety. Even though it wasn’t formally identified until 1989, health officials and NHS staff recognised that this form of hepatitis could be fatal as early as 1980. But they chose to delay “look back” programmes until 1995, which further hampered efforts to track down people who may have been infected, reducing their chances of receiving treatment before permanent liver damage was caused.As NHS funding for hepatitis remained limited, and awareness low, victims told BBC News how they felt doctors patronised and ignored them instead of offering tests and support. What is the infected blood scandal and how many people died?The stories behind the infected blood scandalChildren used as ‘guinea pigs’ in clinical trials Mum never got over injecting son with infected bloodKnown as the “silent killer”, hepatitis C may cause few symptoms initially, with early signs including night sweats, brain fog, itchy skin and fatigue. But for every year a person carries the virus, their chance of dying from liver cirrhosis and related cancers increases. The infected blood scandal is one of the biggest treatment disasters in NHS history – 3,000 people who were infected with HIV and hepatitis C after being given contaminated blood products have died.  Many of the victims were haemophiliacs, who were given infected blood products as part of their treatment.But many thousands more were given transfusions using contaminated blood after accidents, emergencies or childbirth.The Hep C Trust says, on average, two people a month call its helpline following a diagnosis as a result of a blood transfusion more than 30 years ago. More often than not, they say their prognosis is dire. ‘She weighed four stone when she died’ Victoria’s mother, Maureen Arkley, was diagnosed with cirrhosis of the liver and hepatitis C in September last year. By the following month, it was clear she had untreatable liver cancer. Maureen had an operation in 1976 involving multiple blood transfusions. They were noted on her medical records, but at no stage was she contacted by her GP or anyone in the NHS about the fact she might have been exposed to hepatitis. Years later, in 2008, she began having pains in her abdomen. Tests were eventually done in 2010, including an ultrasound but the consultant concluded nothing was wrong. She wasn’t tested for Hep C. Maureen passed away in February, five months after she was diagnosed – and 47 years after she had the blood transfusion that infected her. “The end was utterly horrific, she weighed less than four stone when she died,” says Victoria. She says her mother felt there was a stigma attached to the virus. “She was very ashamed and hid from it. “I work in social care but we just didn’t make the link there was a chance someone with a blood transfusion could have been infected with hepatitis C. Where was the public health campaign? Why didn’t the doctor test her? “They knew she had had transfusions, but no one tested her. I’m so angry,” says Victoria.Government documentsIn 1973, a Blood Transfusion Service booklet was released warning of the risks of hepatitis. Over the next 20 years, it became common knowledge that blood transfusions carried the risk of infecting patients with hepatitis. But, despite this, it was not until 1995 that the UK government began a look-back exercise to find people who may have been infected by contaminated blood transfusions decades earlier.Other countries, including the US, started their process years before.Hospital trusts were tasked with looking through medical records, but without funding, efforts were limited. Some people were traced but there was a postcode lottery when it came to treatments and counselling.A year after the exercise began, an official report noted that “increased testing has resource implications for the NHS”. One common treatment – known as Interferon – was “already placing a considerable burden on purchasers”. In another Department of Health document, submitted to the public inquiry, it said there was “an obligation to remind health professionals, and people who may have been infected”.But it added: “We have so far avoided going down this road because of the resource implications for the NHS. Raising awareness poses undoubted difficulties.”Today hepatitis C can be cleared by taking pills for 8-12 weeks.’It’s just menopause’The majority (64%) of people infected with hepatitis C via blood transfusions were women. Stories of transfusions during childbirth and as a result of ectopic pregnancies were repeatedly heard by the BBC. Memories of dismissive doctors were recurrent. Jo Vincent was infected with hepatitis C in 1988, after being given a transfusion following a postpartum haemorrhage. She soon developed symptoms but was offered antidepressants and sent to a psychiatrist. A doctor suggested she had an alcohol problem. As the years went by, Jo was told her night sweats were down to the menopause. Brain fog was because of hormones. “The doctors just fobbed me off – they wouldn’t listen.” Jo was finally diagnosed in 2015. After a six-week course of two tablets a day, she cleared the virus. But the damage was done – Jo has liver cirrhosis and now has six-monthly checks for the early signs of cancer. Jane Fitzgerald died at the age of 53 from hepatitis C-related illnesses. In 1978, she was given a single unit of blood after surgery, following an ectopic pregnancy. Over the following decades she brought up her two children and enjoyed family holidays and socialising with friends. But as the new millennium came in, she felt tired, was having trouble swallowing and had a sore throat. Eventually, in 2004, blood tests were carried out and she was diagnosed with Hep C. In the hunt for the best treatment Jane paid for trips to Paris so she could have scans on equipment the NHS hadn’t invested in. While in the NHS, she attended clinics with drug addicts and alcoholics. As her liver function started to fail, Jane suffered from ascites – a build-up of fluid in her abdomen – that needed draining every 10 days. Once, she attended an appointment, and after being made to wait the entire day, she was sent home. “That night her abdomen ruptured from the pressure,” her son, Ronan, told the BBC. Jane died with liver cancer in November 2015. “I am so angry still. She was given one unit of blood and at no stage did they try to trace her or warn her that she had this deadly disease,” he says. I gave my daughter Hep CAnnette was given a blood transfusion in 1985 after an ectopic pregnancy. It wasn’t until she moved to Australia in the 1990s, and was pregnant with her second child, that Annette found out she had hepatitis C. Days later, she was given the devastating news her young daughter was also infected. The pair took long courses of Interferon – a drug known to have several physical and mental impacts on patients. “I lost my hair, I fell to seven stone in weight and was suicidal. It was an awful drug,” says Annette. Over the next decade, she took another two courses of treatment and eventually cleared her hepatitis C, in 2018. She now has cirrhosis of the liver and varices – enlarged blood vessels in the oesophagus that make swallowing hard. She is still alive – unlike her daughter. After failing to clear the virus, Annette’s daughter fell pregnant. Within hours of giving birth, a bleed was detected. Doctors discovered she had cancer. Annette’s daughter died soon after her 28th birthday. She left behind her 16-month-old baby. For many victims, the UK-wide infected blood inquiry has come too late. Announced in 2017, after years of campaigning by victim, it took evidence between 2019 and 2023 and will publish its final report on 20 May.A government spokesperson said the infected blood scandal was “an appalling tragedy that never should have happened” and that a new body would be set up to deliver compensation once victims and claims had been assessed.If you think you might have had a blood transfusion in the 1970s, 80 or 90s and have any concerns about your health, you can request a free NHS hepatitis C test at https://hepctest.nhs.ukOnce the form has been filled in, it will take a couple of days to arrive. It will come with clear instructions on how to do a finger-prick test and send back a sample. Results can take up to five days. More on this storyBoy, 7, died from Aids after doctor ignored rulesPublished14 April

Published1 hour agoShareclose panelShare pageCopy linkAbout sharingImage source, BBC NewsBy Michelle RobertsDigital health editorA UK girl born deaf can now hear unaided, after a groundbreaking gene-therapy treatment.Opal Sandy was treated shortly before her first birthday – and six months on, can hear sounds as soft as a whisper and is starting to talk, saying words such as “Mama”, “Dada” and “uh-oh”.Given as an infusion into the ear, the therapy replaces faulty DNA causing her type of inherited deafness. Opal is part of a trial recruiting patients in the UK, US and Spain.Doctors in other countries, including China, are also exploring very similar treatments for the Otof gene mutation Opal has. Her parents, Jo and James, say the results have been mind-blowing – but allowing Opal to be the first to test this treatment, made by Regeneron, was extremely tough. Her sister, Nora, five, has the same type of deafness and manages well wearing an electrical cochlear implant.Rather than making sound louder, like a hearing aid, it gives the “sensation” of hearing, by directly stimulating the auditory nerve that communicates with the brain, bypassing the damaged sound-sensing hair cells in a part of the inner ear known as the cochlea.What noise sounds like with a cochlear implantIn contrast, the therapy uses a modified, harmless virus to deliver a working copy of the Otof gene into these cells. Opal had the therapy in her right ear, under general anaesthetic, and a cochlear implant put into her left.Just a few weeks later, she could hear loud sounds, such as clapping, in her right ear.And after six months, her doctors, at Addenbrooke’s Hospital, in Cambridge, confirmed that ear had almost normal hearing for soft sounds – even very quiet whispers. Love Island’s Tasha Ghouri: Life with a cochlear implantSign language course for NHS staff ‘may save lives’Image source, BBC News”It’s wonderful seeing her respond to sound,” chief investigator and ear surgeon Prof Manohar Bance told BBC News. “It’s a very joyful time.”Experts hope the therapy could also work for other types of profound hearing loss. More than half of hearing-loss cases in children have a genetic cause.And Prof Bance hopes the trial can lead to gene therapy being used for more common types of hearing loss. “What I am hoping is that we can start to use gene therapy in young children… where we actually restore the hearing and they don’t have to have cochlear implants and other technologies that have to be replaced,” he said.Image source, Jo and James SandyHearing loss caused by a variation in the Otof gene is not commonly detected until children are two or three years old, when a delay in speech is likely.But genetic testing for at risk families is available on the NHS. Prof Bance said: “The younger we can restore hearing, the better for all children because the brain starts to shut down its plasticity [adaptability] after the age of about three or so.”Opal’s experience, alongside other scientific data from the trial, is being presented at the American Society of Gene and Cell Therapy in Baltimore, in the US. Martin McLean, from the National Deaf Children’s Society, said more options were to be welcomed.”With the right support from the start, deafness should never be a barrier to happiness or fulfilment,” he said.”As a charity, we support families to make informed choices about medical technologies, so that they can give their deaf child the best possible start in life.”Additional reporting by Nicki Stiastny and James Anderson. More on this storyGene therapy: Deaf to hearing a whisperPublished7 February 2017Love Islander Tasha wants you to hear deaf accentsPublished6 February’I don’t mind people seeing that I’m deaf’Published27 AprilNHS to use test that prevents babies going deafPublished9 February 2023Related Internet LinksRNID – National hearing loss charityCambridge University HospitalThe BBC is not responsible for the content of external sites.

Preventive treatment for tuberculosis (TB) can stop latent TB infections from developing into deadly TB disease. Despite TB infection being fully treatable, there is no global consensus as to which subgroups of individuals exposed to TB should be prioritized for preventive treatment, nor whether the benefits of this treatment vary based on factors such as age or confirmed infection.
A new study led by a Boston University School of Public Health (BUSPH) researcher provides clarity to this issue, finding that exposed individuals with confirmed TB infection — i.e. a positive skin or blood test — should receive priority treatment in settings with a low prevalence of the disease, regardless of their age.
However, in high-burden settings, all exposed individuals should be considered for preventative treatment, even without a confirmed infection, according to the findings published in The Lancet Respiratory Medicine.
This strategy can help end the tuberculosis epidemic and support global public health efforts to reduce TB mortality by 95 percent by 2035 (from 2015 estimates). In 2022, there were more than 10 million cases of active TB worldwide, resulting in 1.5 million deaths.
“Tuberculosis affects tens of millions of people every year and has long-term lasting effects, even after people recover,” says study lead and corresponding author Dr. Leonardo Martinez, assistant professor of epidemiology at BUSPH. “Finding ways to optimize prevention is really important to tackle the epidemic.”
For the study, Dr. Martinez and colleagues conducted a comprehensive review and analysis to identify new cases of TB among people who were in close contact with individuals diagnosed with the disease, and compared the effectiveness of preventive treatment in these exposed individuals based on age, infection status, and burden of TB in their settings.
Among 439,644 participants, the team found that preventive TB treatment was 49 percent effective among the 2,496 individuals who developed TB, but particularly among individuals with a positive skin or blood test (for which the effectiveness was 80 percent).

Notably, the researchers found that preventive TB treatment was not effective in most individuals who did not show evidence of infection, except for children under 5.
For those who did have a positive skin or blood test, the effectiveness of the treatment was comparable among individuals of all age groups — adults, children ages 5-17, and children under 5 — and the treatment was more effective among individuals in high-burden settings than low-burden settings.
The team also estimated the number of individuals needed to receive treatment (NNT) in order to prevent one person from developing TB disease. Regardless of infection status, the NNT was lower in high-burden settings (29 to 43 people) versus low-burden settings (213 to 455 people). Despite the fact that individuals with negative blood or skin tests do not seem to benefit from preventive treatments, the researchers say the overall low NNT may justify prioritizing this treatment to all exposed contacts in areas where testing for TB infection is inaccessible.
“While it is critical to find and treat people who are spreading TB in the community, the threat of global TB will never end until people with latent TB receive treatment,” says study coauthor Dr. C. Robert Horsburgh, professor of global health. “The results of this study show just how effective such treatment can be.”

Neuropathy, the nerve damage that causes pain and numbness in the feet and hands and can eventually lead to falls, infection and even amputation, is very common and underdiagnosed, according to a study published in the May 8, 2024, online issue of Neurology®, the medical journal of the American Academy of Neurology.
“More than one-third of people with neuropathy experience sharp, prickling or shock-like pain, which increases their rates of depression and decreases quality of life,” said study author Melissa A. Elafros, MD, PhD, of the University of Michigan in Ann Arbor and a member of the American Academy of Neurology. “People with neuropathy also have an increased risk of earlier death, even when you take into account other conditions they have, so identifying and treating people with or at risk for neuropathy is essential.”
The study involved 169 people from an outpatient internal medicine clinic serving mainly Medicaid patients in Flint, Michigan. The participants had an average age of 58 years and 69% were Black people. One-half of the people had diabetes, which can cause neuropathy. A total of 67% had metabolic syndrome, which is defined as having excess belly fat plus two or more of the following risk factors: high blood pressure, higher than normal triglycerides (a type of fat found in the blood), high blood sugar and low high-density lipoprotein (HDL) cholesterol, or “good” cholesterol. These risk factors are also associated with neuropathy.
All participants were tested for distal symmetric polyneuropathy. Information about other health conditions was also collected.
A total of 73% of the people had neuropathy. Of those, 75% had not been previously diagnosed with the condition. Nearly 60% of those with neuropathy were experiencing pain.
Of those with neuropathy, 74% had metabolic syndrome, compared to 54% of those who did not have neuropathy.
After adjusting for other factors that could affect the risk of neuropathy, researchers found that people with metabolic syndrome were more than four times more likely to have neuropathy than people who did not have the syndrome.
Researchers were also looking for any relationship between race and income and neuropathy, as few studies have been done on those topics. There was no relationship between low income and neuropathy. For race, Black people had a decreased risk of neuropathy. Black people made up 60% of those with neuropathy and 91% of those without neuropathy.
“The amount of people with neuropathy in this study, particularly undiagnosed neuropathy, was extraordinarily high with almost three fourths of the study population,” Elafros said. “This highlights the urgent need for interventions that improve diagnosis and management of this condition, as well as the need for managing risk factors that can lead to this condition.” A limitation of the study is that it is a snapshot in time; it did not follow people to see who developed neuropathy over time. It also did not look at reasons why people were not able to manage risk factors that can lead to neuropathy.
The study was supported by the National Institute of Neurological Disorders and Stroke, National Institute of Diabetes and Digestive and Kidney Diseases and National Center for Advancing Translational Sciences.