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Published4 hours agoShareclose panelShare pageCopy linkAbout sharingBy Tarah WelshBBC LondonA mother from south east London said living in damp and mouldy conditions for more than a decade has taken its toll on her family’s health.Nadine Richards and her 19-year-old son have sickle cell disease – a serious condition where cold environments can cause painful episodes known as a crisis. “I feel like I am just fighting to live normally,” she said.Her social landlord Hyde said it was due to complete works before Christmas.Ms Richards said she caught pneumonia for the first time after moving in to her socially rented flat in Lewisham.”It was fungal pneumonia and I have had it around 40 times,” she said. “I’m lucky to be alive”.Image source, Nadine RichardsHer seven-year-old has been diagnosed with a mould allergy and asthma. Ms Richards said earlier this year they were both admitted to hospital at the same time. “He was in hospital with a collapsed lung and Influenza B,” she said.Government data said damp and or mould in homes in England was estimated to be associated with approximately 5,000 cases of asthma and approximately 8,500 lower respiratory infections among children and adults.Its research also found that, each year, the NHS spends an estimated £1.4bn on treating illnesses associated with living in cold or damp housing. And when wider societal costs are considered, that figure rises to £15.4bn.Image source, Nadine RichardsMs Richards’ social landlord, Hyde, is repairing her property and she has been placed in temporary accommodation.But it has an ant infestation, signs of damp and mould and the heating has not worked since August, she said.’I don’t want to die'”I don’t think people realise how serious sickle cell can be,” she said. “It can kill. Our environment needs to be warm.”I don’t want to die by contracting pneumonia, I am sick all of the time – that’s not fair.”In December 2020, two-year-old Awaab Ishak died from a respiratory condition caused by exposure to mould at his Rochdale home, an inquest found.The coroner asked the government take action to prevent future deaths.Image source, Nadine RichardsNeal Ackcral, chief operating officer at Hyde, said: “I know how distressing damp and mould can be, and I’m sorry for any distress which Ms Richards has experienced.”This is why we quickly relocated Ms Richards into a temporary home while we carried out the necessary work. “Unfortunately, Ms Richards has experienced some problems in her temporary home. “We’ve been working closely with Ms Richards, and her home is ready to return to in time for Christmas. “We’re replacing all her white goods, beds and mattresses and have offered to pay for her clothes to be laundered. We’ll continue to closely support Ms Richards until she is settled into her home.”Follow BBC London on Facebook, Twitter and Instagram. Send your story ideas to hellobbclondon@bbc.co.uk

Hundreds of genetic variants carried by Neanderthals and Denisovans are shared by people who like to get up early.Neanderthals were morning people, a new study suggests. And some humans today who like getting up early might credit genes they inherited from their Neanderthal ancestors.The new study compared DNA in living humans to genetic material retrieved from Neanderthal fossils. It turns out that Neanderthals carried some of the same clock-related genetic variants as do people who report being early risers.Since the 1990s, studies of Neanderthal DNA have exposed our species’ intertwined history. About 700,000 years ago, our lineages split apart, most likely in Africa. While the ancestors of modern humans largely stayed in Africa, the Neanderthal lineage migrated into Eurasia.About 400,000 years ago, the population split in two. The hominins who spread west became Neanderthals. Their cousins to the east evolved into a group known as Denisovans.The two groups lived for hundreds of thousands of years, hunting game and gathering plants, before disappearing from the fossil record about 40,000 years ago. By then, modern humans had expanded out of Africa, sometimes interbreeding with Neanderthals and Denisovans.And today, fragments of their DNA can be found in most living humans.Research carried out over the past few years by John Capra, a geneticist at the University of California, San Francisco, and other scientists suggested that some of those genes passed on a survival advantage. Immune genes inherited from Neanderthals and Denisovans, for example, might have protected them from new pathogens they had not encountered in Africa.Dr. Capra and his colleagues were intrigued to find that some of the genes from Neanderthal and Denisovans that became more common over generations were related to sleep. For their new study, published in the journal Genome Biology and Evolution, they investigated how these genes might have influenced the daily rhythms of the extinct hominins.Inside the cells of every species of animal, hundreds of proteins react with each other over the course of each day, rising and falling in a 24-hour cycle. They not only control when we fall asleep and wake up, but also influence our appetite and metabolism.To explore the circadian rhythms of Neanderthals and Denisovans, Dr. Capra and his colleagues looked at 246 genes that help to control the body clock. They compared the versions of the genes in the extinct hominins to the ones in modern humans.The researchers found over 1,000 mutations that were unique only to living humans or to Neanderthals and Denisovans. Their analysis revealed that many of these mutations probably had important effects on how the body clock operated. The researchers predicted, for example, that some body-clock proteins that are abundant in our cells were much scarcer in the cells of Neanderthals and Denisovans.Next, the scientists looked at the small number of body-clock variants that some living people have inherited from Neanderthals and Denisovans. To see what effects those variants had on people, they probed the UK Biobank, a British database holding the genomes of half a million volunteers.Along with their DNA, the volunteers provided answers to a long list of health-related questions, including whether they were early risers or night owls. To Dr. Capra’s surprise, almost all the ancient body-clock variants increased the odds that the volunteers were morning people.“That was really the most exciting moment of the study, when we saw that,” Dr. Capra said.Geography might explain why the ancient hominins were early risers. Early humans lived in Africa, fairly close to the Equator, where the duration of days and nights stays roughly the same over the course of the year. But Neanderthals and Denisovans moved into higher latitudes, where the day became longer in the summer and shorter in the winter. Over hundreds of thousands of years, their circadian clocks may have adapted to the new environment.When modern humans expanded out of Africa, they also faced the same challenge of adapting to higher latitudes. After they interbred with Neanderthals and Denisovans, some of their descendants inherited body-clock genes better suited to their new homes.All of these conclusions, however, stem from a database limited to British people. Dr. Capra is starting to look at other databases of volunteers with other ancestries. If the links hold up, Dr. Capra hopes ancient body clocks can inspire some ideas about how we can adapt to the modern world, where circadian rhythms are disrupted by night shifts and glowing smartphones. These disruptions don’t just make it hard to get a good night’s sleep; they can also raise the risk of cancer, obesity and a host of other disorders.Michael Dannemann, an evolutionary geneticist at the University of Tartu in Estonia who was not involved in the new study, said one way to test Dr. Capra’s variants would be to engineer various human cells in the lab so that their genes were more like those of Neanderthals and Denisovans. Then scientists could grow clusters of the cells and watch them go through their daily cycles.“This step forward not only advances our knowledge of how Neanderthal DNA influences present-day humans,” he said, “but also offers a pathway to expanding our understanding of Neanderthal biology itself.”

A clinical trial reported in 2021 and conducted by a team of researchers from Washington University School of Medicine in St. Louis and the International Centre for Diarrhoeal Disease Research in Dhaka, Bangladesh, showed that a newly designed therapeutic food aimed at repairing malnourished children’s underdeveloped gut microbiomes was superior to a widely used standard therapeutic food.
Now, another study from the same research team at Washington University School of Medicine has identified key, naturally occurring biochemical components of this new therapeutic food and the important bacterial strains that process these components. The study suggests that identifying these components and the key growth-promoting gut bacterial strains that function as their therapeutic targets can help guide treatment with the current food formulation and could enable creation of new, more effective formulations in the future.
The study, led by Jeffrey I. Gordon, MD, the Dr. Robert J. Glaser Distinguished University Professor at Washington University, is published Dec. 13 in Nature.
“We have identified bioactive elements of a microbiome-directed food,” said Gordon, who is also director of the Edison Family Center for Genome Sciences & Systems Biology at the School of Medicine. “These are naturally occurring carbohydrate structures that could, in theory, be recovered in large quantities from the byproduct streams of food manufacturing and be used to produce prebiotics. We also have identified the microbes that process these food components, and in theory, there is potential for the organisms themselves to be part of a therapeutic intervention in children completely lacking these beneficial gut microbes.”
Building on this work, the World Health Organization together with the Bill & Melinda Gates Foundation is supporting a large, multisite clinical trial investigating this new therapeutic food — called MDCF-2, or microbiome-directed complementary food. The trial, which is in its early stages, aims to enroll about 6,500 malnourished children, ages 6 months to 2 years, living in Africa and Southeast Asia.
Malnutrition is a leading cause of death in children under age 5, and nearly 150 million children under this age suffer from stunted growth, according to the World Health Organization and the United Nations Children’s Fund. Treatment with traditional therapeutic foods reduces deaths, but it does not substantially improve other long-term effects of malnutrition, including problems with metabolism, bone growth, immune function and brain development.
“Our work has demonstrated that a healthy microbial community in the gut is necessary for healthy growth,” Gordon said. “Development of the gut microbial community in the first two years of life needs to be in sync with the development of the rest of the body, the other organ systems. When this microbial community is incompletely formed, simply giving more calories won’t repair it. We are seeking specific food components that nurture healthy gut microbial communities in hopes of repairing the gut microbial community that has become dysfunctional in children with malnutrition.”
The researchers, including co-first authors Matthew C. Hibberd, PhD, an assistant professor of pathology & immunology, and Daniel M. Webber, MD, PhD, an instructor in pathology & immunology, found that strains of the bacteria Prevotella copri were positively associated with increased growth in the children. These organisms showed increases in the activities of metabolic pathways that use beneficial bioactive carbohydrate structures present in the MDCF-2 therapeutic food. Compared with children receiving the traditional therapeutic food, those receiving MDCF-2 showed higher blood levels of certain proteins that support musculoskeletal growth and neurodevelopment as well as lower levels of proteins involved with inflammation — indicating that the effects of microbiome repair extend well beyond the walls of the gut.

“We performed extensive genomic analyses of fecal samples from these children,” Hibberd said. “We know the identities of the bacteria that are responding to these food components, and the metabolic capabilities these bacteria have and express in response to treatment. It turns out that many of the bacteria strongly associated with growth in the children are enriched in pathways for carbohydrate metabolism.”
In the 2021 clinical trial, the MDCF-2 therapeutic food was given as a dietary supplement to provide about 20% of the children’s daily energy requirements. Ingredients of MDCF-2 include chickpea flour, soybean flour, peanut paste and mashed green banana pulp; the traditional, higher calorie, ready-to-use supplementary food includes rice, lentils and milk powder. Detailed analysis of the carbohydrates in these foods revealed that MDCF-2 contains more polysaccharides known as galactans and mannans, while the traditional therapeutic food contains more starch and cellulose. The children receiving MDCF-2 showed increased growth compared with those receiving the traditional supplementary food, even though the caloric density of MDCF-2 was 15% lower than in the higher calorie food. The increased growth associated with MDCF-2 treatment was correlated with increased expression of metabolic pathways present in certain strains of Prevotella copri in children’s microbiomes — pathways that are involved in the organism’s utilization of polysaccharides present in MDCF-2.
“Information from food frequency questionnaires suggests that the children who had the greatest response to MDCF-2 were also consuming more nuts and legumes as part of their regular diets,” Webber said. “These nuts and legumes possess some of the same polysaccharides as MDCF-2. This suggests that there may be opportunities to adjust the composition and dose of MDCF-2 to further enhance its therapeutic effect.”
Gordon added: “The upcoming clinical trials of MDCF-2 in East and West Africa and in South Asia will test the generalizability of its effectiveness in malnourished children from 6 months to 24 months of age with varying degrees of severity of malnutrition. The results from these and other studies should help advance our understanding of how our microbes collaborate with our human cells and organs to influence developmental biology, refine our approaches for the development of microbiome-directed therapeutics, and help us develop new approaches for feeding our children in order to ensure formation of healthy microbiomes during the first several years of postnatal life.”

People who have very irregular sleep patterns may have a higher risk of dementia than those who have more regular sleep patterns, according to new research published in the December 13, 2023, online issue of Neurology®, the medical journal of the American Academy of Neurology. The study does not prove that sleep irregularity causes dementia. It only shows an association.
Sleep regularity is how consistent you are at going to sleep and waking up at the same time each day.
“Sleep health recommendations often focus on getting the recommended amount of sleep, which is seven to nine hours a night, but there is less emphasis on maintaining regular sleep schedules,” said study author Matthew Paul Pase, PhD of Monash University in Melbourne, Australia. “Our findings suggest the regularity of a person’s sleep is an important factor when considering a person’s risk of dementia.”
The study involved 88,094 people with an average age of 62 in the United Kingdom. They were followed for an average of seven years.
Participants wore a wrist device for seven days that measured their sleep cycle. Researchers then calculated the regularity of participants’ sleep. They determined the probability of being in the same sleep state, asleep or awake, at any two time points 24 hours apart, averaged over seven days. A person who sleeps and wakes at the exact same times each day would have a sleep regularity index of 100, while a person who sleeps and wakes at different times every day would have a score of zero.
Researchers then looked at medical data to identify which participants developed dementia and found 480 people developed the disease.
Researchers found links between sleep regularity scores and risk of dementia. Compared to those with an average sleep regularity index, the risk of dementia was highest for people who had the most irregular sleep.

People in the lowest fifth percentile had the most irregular sleep with an average score of 41. Those in the highest 95th percentile had the most regular sleep with an average score of 71. People between these two groups had an average sleep regularity score of 60.
After adjusting for age, sex and genetic risk of Alzheimer’s disease, researchers found that those with the most irregular sleep were 53% more likely to develop dementia than people in the middle group. For people with the most regular sleep, researchers found they did not have a lower risk of developing dementia than people in the middle group.
“Effective sleep health education combined with behavioral therapies can improve irregular sleep patterns,” Pase said. “Based on our findings, people with irregular sleep may only need to improve their sleep regularity to average levels, compared to very high levels, to prevent dementia. Future research is needed to confirm our findings.”
Pase said that although they adjusted for several factors that can affect the risk of dementia, they cannot rule out that another unknown factor may play a role in the association between sleep regularity and dementia.
The study was funded by the National Health and Medical Research Council of Australia.

People who are very sleepy during the day, despite a good night’s rest, may have a sleep disorder called idiopathic hypersomnia. New research has found this neurologic disorder may not be as rare as once thought. The study is published in the December 13, 2023, online issue of Neurology®, the medical journal of the American Academy of Neurology.
Symptoms of idiopathic hypersomnia include not only being very sleepy during the day, but also sleeping excessive amounts of time, having difficulty waking up, and waking up disoriented. This makes it difficult to complete day-to-day activities, decreasing a person’s quality of life. It differs from narcolepsy. People with narcolepsy are also sleepy during the day but usually do not sleep excessive amounts of time and may wake up feeling refreshed after naps.
“It has been difficult to determine the prevalence of idiopathic hypersomnia because expensive and time-consuming sleep testing is required to make a diagnosis,” said study author David T. Plante, MD, PhD, of the University of Wisconsin-Madison. “We examined data from a large sleep study and found that this condition is much more common than previous estimates, and as prevalent as some other common neurologic and psychiatric conditions such as epilepsy, bipolar disorder and schizophrenia.”
For the study, researchers examined sleep data for 792 people with an average age of 59. All participants completed an overnight sleep study and a daytime nap study, which measures how fast someone falls asleep over a course of four or five naps. Participants were also surveyed about daytime sleepiness, fatigue, the amount of time napping, and how many hours of sleep they get on a worknight and a nonwork night.
Researchers determined that 12 people had probable cases of idiopathic hypersomnia, for a prevalence of 1.5%. People with the disorder had more severe sleepiness, despite similar or longer sleep times.
On a survey of sleepiness with a score range of zero to 24 that asks questions like how likely a person is to nod off while sitting, talking and stopped in a car, people with idiopathic hypersomnia had an average score of 14 while those without it had an average score of nine. A score of higher than 10 is of concern.
During the sleep studies, people with idiopathic hypersomnia took an average of four minutes to fall asleep at night and six minutes during naps, compared to an average of 13 minutes at night and 12 minutes during naps for people without the disorder.

Researchers also looked at daytime sleepiness in people with idiopathic hypersomnia over an average of 12 years. They found for the 10 people for whom data were available, excessive daytime sleepiness was often chronic. However, sleepiness went away for four people, or 40% of those studied. Plante noted that not only does that provide hope for people with the disorder, it also underscores the need to further study what leads to remission.
“Our results demonstrate that idiopathic hypersomnia is relatively common, more prevalent than generally assumed, so there is likely a sizable difference between the number of people with this disorder and those who seek treatment,” said Plante. “Further efforts to identify, diagnose and treat those impaired by idiopathic hypersomnia are needed. Additional research may also clarify the causes of idiopathic hypersomnia and lead to new treatments.”
A limitation of the study was that study participants were employed, so prevalence could be different in other populations, and may be even higher in the unemployed since people with idiopathic hypersomnia have higher rates of job loss and disability.
The study was funded by Jazz Pharmaceuticals, the maker of a drug used to treat idiopathic hypersomnia, as well as the National Heart, Lung, and Blood Institute and the National Center for Research Resources at the National Institutes of Health. Plante has served as a consultant and on a medical advisory board for Jazz Pharmaceuticals. The authors state that study funders had no involvement in study design, data collection, analysis or manuscript preparation.

The genetic alphabet contains just four letters, referring to the four nucleotides, the biochemical building blocks that comprise all DNA. Scientists have long wondered whether it’s possible to add more letters to this alphabet by creating brand-new nucleotides in the lab, but the utility of this innovation depends on whether or not cells can actually recognize and use artificial nucleotides to make proteins.
Now, researchers at Skaggs School of Pharmacy and Pharmaceutical Sciences at the University of California San Diego have come one step closer to unlocking the potential of artificial DNA. The researchers found that RNA polymerase, one of the most important enzymes involved in protein synthesis, was able to recognize and transcribe an artificial base pair in exactly the same manner as it does with natural base pairs.
The findings, published December 12, 2023 in Nature Communications, could help scientists create new medicines by designing custom proteins.
“Considering how diverse life on Earth is with just four nucleotides, the possibilities of what could happen if we can add more are enticing,” said senior author Dong Wang, PhD, a professor at Skaggs School of Pharmacy and Pharmaceutical Sciences at UC San Diego. “Expanding the genetic code could greatly diversify the range of molecules we can synthesize in the lab and revolutionize how we approach designer proteins as therapeutics.”
Wang co-led the study with Steven A. Benner, PhD, at the Foundation for Applied Molecular Evolution, and Dmitry Lyumkis, PhD, at Salk Institute for Biological Studies.
The four nucleotides that comprise DNA are called adenine (A), thymine (T), guanine (G) and cytosine (C). In a molecule of DNA, nucleotides form base pairs with a unique molecular geometry called Watson and Crick geometry, named for the scientists who discovered the double-helix structure of DNA in 1953. These Watson and Crick pairs always form in the same configurations: A-T and C-G. The double-helix structure of DNA is formed when many Watson and Crick base pairs come together.
“This is a remarkably effective system for encoding biological information, which is why serious mistakes in transcription and translation are relatively rare,” said Wang. “As we’ve also learned, we may be able to exploit this system by using synthetic base pairs that exhibit the same geometry.”
The study uses a new version of the standard genetic alphabet, called the Artificially Expanded Genetic Information System (AEGIS), that incorporates two new base pairs. Originally developed by Benner, AEGIS began as a NASA-supported initiative to try to understand how extraterrestrial life could have developed.

By isolating RNA polymerase enzymes from bacteria and testing their interactions with synthetic base pairs, they found that the synthetic base pairs from AEGIS form a geometric structure that resembles the Watson and Crick geometry of natural base pairs. The result: the enzymes that transcribe DNA can’t tell the difference between these synthetic base pairs and those found in nature.
“In biology, structure determines function,” said Wang. “By conforming to a similar structure as standard base pairs, our synthetic base pairs can slip in under the radar and be incorporated in the usual transcription process.”
In addition to expanding the possibilities for synthetic biology, the findings also support a hypothesis that dates back to Watson and Crick’s original discovery. This hypothesis, called the tautomer hypothesis, says the standard four nucleotides can form mismatched pairs due to tautomerization, or the tendency of nucleotides to oscillate between several structural variants with the same composition. This phenomenon is thought to be one source of point mutations, or genetic mutations that only impact one base pair in a DNA sequence.
“Tautomerization allows nucleotides to come together in pairs when they aren’t usually supposed to,” said Wang. “Tautomerization of mispairs has been observed in replication and translation processes, but here we provide the first direct structural evidence that tautomerization also happens during transcription.”
The researchers are next interested in testing whether the effect they observed here is consistent in other combinations of synthetic base pairs and cellular enzymes.
“We are excited to assemble a multidisciplinary collaborative team with Steve and Dmitry that allow us to tackle the molecular basis of transcription on expanded alphabet,” said Wang. “There could be many other possibilities for new letters besides what we’ve tested here, but we need to do more work to figure out how far we can take it.”
Co-authors include: Juntaek Oh, Jun Xu and Jenny Chong at UC San Diego, Zelin Shan at the Salk Institute for Biological Sciences and Shuichi Hoshika at Foundation for Applied Molecular Evolution.

Research led by Professor John McGrath from the University of Queensland found that the concentration of the C4 protein, an important part of the immune system, was not associated with risk of mental disorders.
However, the research also showed that a higher concentration of the C3 protein reduces the risk of schizophrenia in women, and studies based on the genetic correlates of C4 found strong links with several autoimmune disorders.
Professor John McGrath from UQ’s Queensland Brain Institute said his colleagues at Aarhus University in Denmark looked at two complement components linked to schizophrenia and autoimmune disorders.
“These complement components are proteins that work with your immune system, helping to protect your body from infection and autoimmune disorders.
“We studied the link between two protein concentrations — C3 and C4 — in over 68,000 newborn babies and the risk of developing six mental disorders later in life,” Professor McGrath said.
“A growing body of evidence links C4 to brain development, which could subsequently have implications for the risk of mental disorders.
“However, in our study, we found no associations between C4 concentration and mental health disorders.

“In an expanded sample, we found higher C3 concentration was associated with a reduced risk of schizophrenia in females only.”
The research team also examined the link between the genetic correlates of these two proteins and the risk of autoimmune disorders, finding that C4 was linked with an altered risk of five types.
“Higher C4 concentration was associated with a lower risk of several autoimmune disorders and a higher risk of others,” Professor McGrath said.
“The mechanisms underpinning the links between C4 and the increased or decreased risk of autoimmune disease are not well understood yet.
“We hope our findings will guide future research into the association between these two complement components and health outcomes.”
The study was published in Cell Genomics.
Professor McGrath’s work is funded by the Danish National Research Council, and the Queensland Centre for Mental Health Research.

Researchers at Texas A&M University have already shown that paternal drinking habits prior to conception can have a negative effect on fetal development — with semen from men who regularly consume alcohol impacting placenta development, fetal alcohol syndrome (FAS)-associated brain and facial defects, and even IVF outcomes.
In an article published this month in Andrology, the lab of Dr. Michael Golding has now demonstrated that it takes much longer than previously believed, longer than a month, for the effects of alcohol consumption to leave the father’s sperm.
“When someone is consuming alcohol on a regular basis and then stops, their body goes through withdrawal, where it has to learn how to operate without the chemical present,” said Golding, a professor in the School of Veterinary Medicine & Biomedical Sciences’ Department of Veterinary Physiology & Pharmacology. “What we discovered is that a father’s sperm are still negatively impacted by drinking even during the withdrawal process, meaning it takes much longer than we previously thought for the sperm to return to normal.”
The Dangers Of Paternal Drinking
One of the major risks associated with alcohol consumption before and during pregnancy is FAS, which causes abnormal facial features, low birth weight and/or height, attention and hyperactivity issues, and poor coordination.
Currently, doctors are required to confirm only that the mother has consumed alcohol — not the father — to diagnose a child with FAS.
“For years, there’s really been no consideration of male alcohol use whatsoever,” Golding said. “Within the last five to eight years, we’ve started to notice that there are certain conditions where there’s a very strong paternal influence when it comes to alcohol exposure and fetal development.

“With this project, we wanted to see how long it would take for the effects of alcohol on sperm to wear off,” he said. “We thought it would be a relatively quick change back to normal, but it wasn’t. The withdrawal process took over a month.”
When drinking alcohol, an individual’s liver experiences oxidative stress, leading the body to overproduce certain chemicals, which then interrupts normal cellular activity. Golding’s team discovered that withdrawal causes the same kind of oxidative stress, effectively lengthening the duration of alcohol’s effects on the body beyond what was previously thought.
“During withdrawal, the liver experiences perpetual oxidative stress and sends a signal throughout the male body,” Golding said. “The reproductive system interprets that signal and says, ‘Oh, we are living in an environment that has a really strong oxidative stressor in it. I need to program the offspring to be able to adapt to that kind of environment.’ But Golding suspects that the adaptations to the sperm aren’t beneficial — they lead to problems like FAS.”
He also noted that it doesn’t take excessive alcohol use for a person to experience withdrawal.
“In the models we’re using, even drinking three to four beers after work several days a week can induce withdrawal when the behavior ceases,” Golding said. “You may not feel inebriated, but your body is going through chemical changes.”
Changing The Narrative
Golding’s work is vital to improving pregnancy outcomes by changing the conversation about who is responsible for alcohol-related birth defects, since society has historically placed all blame on mothers, even when they do not consume alcohol during their pregnancy.

“There’s psychological trauma associated with the question, ‘Did you drink while you were pregnant?’ It’s also difficult for physicians to have that conversation,” he said. “But if they don’t, then FAS doesn’t get diagnosed right away and the child may not get the support that they need until later in life.”
Because of this, it’s crucial that couples planning on getting pregnant know how far in advance to stop drinking in order to prevent birth defects.
While Golding and his lab will continue to research the effects of paternal drinking to help doctors advise couples, he suggests that fathers abstain from alcohol at least three months prior to conceiving, given this groundbreaking discovery.
“There’s still a lot of work to be done to get a hard answer, but we know that sperm are made over the course of 60 days, and the withdrawal process takes at least one month,” he said. “So, my estimate would be to wait at least three months.”

Body dissatisfaction at age 11 is linked to increased risk of depression by age 14, finds a new longitudinal study led by UCL researchers.
The findings, published in The Lancet Psychiatry, show that body image concerns explain a large proportion of an association between body mass index (BMI) and depression in children, particularly in girls.
The study, supported by Wellcome, involved 13,135 participants of the Millennium Cohort Study, a UCL-led nationally representative birth cohort study of people born between 2000 and 2002.
The researchers found that high BMI at age seven was linked with increased depressive symptoms (which can include low mood, loss of pleasure and poor concentration) by age 14, as well as with greater body dissatisfaction at age 11.
They found that body dissatisfaction was a major contributor to the link between BMI at age seven and subsequent depressive symptoms, explaining 43% of the association.
All three of these associations were twice as large in girls compared to boys.
Lead author Dr Francesca Solmi (UCL Psychiatry) said: “Depression has become more common among young people, as have having an overweight BMI, and body dissatisfaction.

“Here we have found strong longitudinal evidence that a high BMI in childhood is linked with an increased risk of depressive symptoms multiple years later.
“But we were particularly interested in how much body dissatisfaction might be the driver of this link. We found strong evidence that being unhappy with one’s appearance is linked with increased depressive symptoms years later. Our findings suggest that any efforts to reduce weight in childhood need to consider their potential mental health impacts, so that we can avoid stigmatising weight and instead support children’s mental health and wellbeing.”
The research did not cover what other factors, besides body dissatisfaction, could explain why children with high BMI are more likely to develop depressive symptoms, but they say that other biological (for instance inflammation) or environmental (for instance bullying) pathways might explain part of the association.
First author Emma Blundell, trainee clinical psychologist at UCL Psychology & Language Sciences, said: “Many public health strategies seek to reduce weight in childhood. Primary school children are being taught about the importance of calories and exercise, and all young people in England are being weighed at school to determine whether weight loss efforts are needed. Whilst promoting healthy diet and exercise is important, it may be that some public health messaging could be fostering feelings of guilt or shame.
“It is important to ensure that any interventions to reduce BMI in childhood do not inadvertently increase body dissatisfaction and harm children’s mental health.”
The researchers say that some strategies to target body image concerns in early adolescence have been developed, such as with psychological interventions or media literacy training that could address self-esteem, social comparisons, and social media influences, but more research is needed to more effectively tackle body image concerns in young people.
Dr Solmi added: “Reducing body dissatisfaction in young people could be an important way of preventing depression, particularly in girls, at ages when social environments and peer relations become increasingly impactful.”
The study additionally involved researchers in the UCL Great Ormond Street Institute of Child Health, the UCL Institute of Epidemiology & Health Care, MRC Unit for Lifelong Health & Ageing at UCL, and Imperial College London. The Millennium Cohort Study is based at the UCL Centre for Longitudinal Studies, in the IOE, UCL’s Faculty of Education & Society.

Published29 minutes agoShareclose panelShare pageCopy linkAbout sharingImage source, Getty ImagesBy Catherine SnowdonBBC NewsWhen Vertex Pharmaceuticals developed a treatment for genetic condition cystic fibrosis (CF), it was hailed around the world as a “groundbreaking” moment for patients.For the first time, the condition – which often causes patients to die before their 40s, as mucus clogs and damages their lungs – could be treated at the root cause, by bypassing the genetic errors responsible for the disease.But these treatments are thought to cost the NHS well over £100,000 a year per patient. The newest of the so-called modulator drugs, Kaftrio, has proven effective for about 90% of CF patients – but with more than 11,000 in the UK, it would, at list price, cost the NHS more than £1bn a year.And last month, National Institute for Health and Care Excellence (NICE) draft guidance deemed the drugs too expensive.Patients will continue to have access to them during the appraisal process – but parents worry young children might not be eligible if NICE recommends withdrawing funding.Image source, Marc holding a packet of Kaftrio”Parents are right to question NICE, to make sure it has the right data to assess the drug correctly, particularly given that CF is a rare condition and that the benefits of early access might not be realised for many years or even decades,” Marc Cotterill, 41, who has CF, says.”But equally, we need to protect our NHS – its budget is limited. “We can sit here and point the finger at NICE and assume they’re trying to put a price on a life – but the problem is the price itself set by Vertex Pharmaceuticals. “This drug has to be affordable and sustainable. It’s not a one-off drug. Once on it, patients need it for life in order to enjoy the benefits.” Mr Cotterill says Kaftrio “saved” his life. And he cannot remember the last time his lung capacity was as good as it is since he started the treatment – currently, 80% functioning.Extra costOther countries around the world are also arguing the price set by Vertex Pharmaceuticals for Kaftrio is too high. The US, Dutch and Canadian authorities have called for large price reductions.But the company says it is “disappointed” by the draft NICE guidance and disagrees with some of the “key evidence that NICE has selected to use, which has a significant impact on the way that our medicines are valued, particularly underestimating the costs of caring for people with CF and the impact that CF has on a person’s quality of life”. A Bristol University study, released in January, showed the average extra cost of having CF was more than £6,500 a year.Image source, Just TreatmentPatent law has allowed Vertex Pharmaceuticals to carefully guard its monopoly of these drugs.But World Trade Organization agreements and national laws include flexibilities designed to ensure citizens’ right to life are not threatened by intellectual-property rights – and patients are challenging the company’s patents.In February, legal papers were filed with the South African High Court, seeking a compulsory licence that would allow the supply of more affordable generic versions of the CF drug. Petitions to revoke or suspend Vertex Pharmaceuticals’ patents have also been submitted to the governments of India, Ukraine, and Brazil.The company declined to comment on the legal processes in progress. Operating expensesResearch led by Dr Andrew Hill, of the University of Liverpool pharmacology department, found the basic production cost for these drugs was less than $6,000 (£4,790) a year per patient.But this does not include the significant costs involved in research and development (R and D).”The price of our medicines reflects their clinical value and benefits to patients, caregivers and healthcare systems,” Vertex Pharmaceuticals told BBC News. And list prices “published at the time of marketing authorisation do not reflect the final reimbursed price agreed with the local health authorities which is confidential”. “Each year, we reinvest over $1bn into developing new medicines for people with CF, and others, who today have few or no treatment options, dedicating three out of every five Vertex employees to that purpose,” the company said.”More than 70% of our operating expenses are dedicated to R and D, well above the average of the top pharma and biotech companies in the industry.”‘Hugely inflated’Understanding the price of developing a new treatment is hugely complex. But Diarmaid McDonald, the director of Just Treatment, which campaigns for lower-cost drugs for NHS patients and globally, says the industry should be more transparent. “We have no idea of the real cost of clinical trials or the other costs involved in developing these drugs – though industry figures on R and D spend are criticised as hugely inflated,” he says.”We also don’t really know what the NHS or other countries are paying for them or the details of the deals they are negotiating. “It makes it really hard to judge whether we’re getting value for money.”Expiry dateThe NHS says patients already on these drugs will continue to have access to them while the negotiation continues.But patients will nevertheless be worried about their future. Image source, CJ GUNTHER/EPA-EFE/REX/ShutterstockThose old enough will remember the last such process between NICE and Vertex, which involved Kaftrio’s predecessor, Orkambi, another CF drug. The negotiations lasted years and saw Vertex destroy nearly 8,000 packets of the drug, as they passed their expiry date before the price was agreed. Buyers clubDuring these negotiations, the NHS called Vertex Pharmaceuticals an “extreme outlier” among pharmaceutical companies because of its hard line trying to secure a high price. The government began discussing invoking what is known as a Crown use licence, which would have swept aside the company’s exclusivity rights to these drugs and allowed the UK to buy in generic, vastly cheaper versions of the treatment.In the end, Vertex Pharmaceuticals returned to discussions and a deal was finally agreed.But some patients, desperate for access to these drugs in the meantime, took matters into their own hands and created a buyers club, flying to Argentina to buy a generic version produced by a company there.In its latest financial results, Vertex Pharmaceuticals raised the amount it expects to bring in via CF product revenue to about $9.85bn. And these results were published before the announcement the UK Medicines and Healthcare products Regulatory Agency had extended the licences of Kaftrio and Kalydeco to two- to five-year-olds, which will increase the amounts needed for NHS patients.The second NICE committee meeting to discuss the comments submitted during the consultation period is on Thursday, with a final recommendation regarding NHS funding for these treatments expected next spring.Vertex Pharmaceuticals says it is “committed to working collaboratively” with the NHS and NICE to secure “long-term access” for new patients who may benefit from these treatments following the conclusion of the NICE evaluation.The company stresses that the NICE process will not impact access for patients who are already taking these medicines or who may start taking it in the near future.”Access for these patients will continue irrespective of the outcome of the NICE process,” says Vertex,More on this storyParents fear loss of cystic fibrosis ‘miracle drug’Published16 NovemberCystic fibrosis buyers’ club travels to ArgentinaPublished22 September 2019’Groundbreaking’ cystic fibrosis drugPublished17 May 2015