Kathleen Folbigg: Mum pardoned for baby deaths claims win for science

Published2 hours agoShareclose panelShare pageCopy linkAbout sharingThis video can not be playedTo play this video you need to enable JavaScript in your browser.By Tom HousdenBBC News, SydneyAn Australian woman convicted of killing her four infant children says a decision to pardon her after 20 years is “a victory for science” and “truth”.Kathleen Folbigg was released from prison on Monday after an inquiry upheld new evidence which cast “reasonable doubt” on her convictions.Originally accused of smothering her children, the evidence suggested they died due to rare genetic abnormalities. The 55-year-old said she was “humbled” and “grateful” to be free.”For the past 20 years I have been in prison, I have forever, and will always, think of my children [and] grieve for my children,” she said in a video statement.Ms Folbigg also thanked her friends and supporters, who in recent years waged a campaign for her case to be reviewed.”I would not have survived this whole ordeal without them,” she said.Ms Folbigg was met at the prison gates by long-time friend Tracy Chapman, who said she spent her first day of freedom enjoying simple pleasures.These included a comfortable bed, pizza and garlic bread, and a Kahlua and coke, Ms Chapman told reporters, adding that Ms Folbigg was “in awe” of modern technology such as smartphones.”There’s no hate in Kath’s heart. She just wants to live a life she missed for the last 20 years and move on,” she said. Ms Folbigg would now seek to have her convictions quashed in the Court of Criminal Appeal, lawyer Rhanee Rego said.”If Australia really wants to make some good from a tragic story, they’ll seriously consider reviewing the system of post-conviction review,” she said, adding that it had taken too long for Ms Folbigg’s case to be scrutinized.Ms Folbigg, who always maintained her innocence, made two unsuccessful appeals against her conviction and an earlier inquiry upheld the guilty verdict.But on Monday the New South Wales (NSW) attorney general said Ms Folbigg had been granted the unconditional pardon due to another recent inquiry into her case.That inquiry, led by retired judge Tom Bathurst, heard all four children could have died from natural causes.A team of immunologists found that Ms Folbigg’s daughters, Sarah and Laura, shared a genetic mutation – called CALM2 G114R – that can cause sudden cardiac death.The heart condition, known as calmodulinopathy, is so rare that only 134 known cases have been detected worldwide.Evidence was also uncovered that her sons possessed a different genetic mutation, linked to sudden-onset epilepsy in mice. The inquiry heard Patrick had epileptic seizures in months before his death.It also heard that the diary entries from Ms Folbigg used in her original trial should not have been accepted as admissions of guilt.Her ex-husband, Craig Folbigg, had contacted police after reading diary entries, which prosecutors later argued implied she had harmed the children. He maintains she is guilty, and his lawyer said news of her release had “increased the pain and suffering his client had endured for two decades”.Ms Folbigg could eventually claim a substantial compensation payment from the state if her convictions are overturned.If her appeal succeeds she could take then legal action against the NSW government, or seek a settlement payment from them.More on this storyWhy science could free Australian ‘serial killer’Published11 March 2021

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Ghana patients in danger as nurses head for NHS in UK – medics

Published1 hour agoShareclose panelShare pageCopy linkAbout sharingBy Naomi Grimley & Camilla HorroxBBC News, AccraThe recruitment of nurses by high-income countries from poorer nations is “out of control”, according to the head of one of the world’s biggest nursing groups.The comments come as the BBC finds evidence of how Ghana’s health system is struggling due to the “brain-drain”.Many specialist nurses have left the West African country for better paid jobs overseas. In 2022 more than 1,200 Ghanaian nurses joined the UK’s nursing register.This comes as the National Health Service (NHS) increasingly relies on staff from non-EU countries to fill vacancies. Although the UK says active recruitment in Ghana is not allowed, social media means nurses can easily see the vacancies available in NHS trusts. They can then apply for those jobs directly. Ghana’s dire economic situation acts as a big push factor. Howard Catton from the International Council of Nurses (ICN) is concerned about the scale of the numbers leaving countries like Ghana. “My sense is that the situation currently is out of control,” he told the BBC. “We have intense recruitment taking place mainly driven by six or seven high-income countries but with recruitment from countries which are some of the weakest and most vulnerable which can ill-afford to lose their nurses.”The head of nursing at Greater Accra Regional Hospital, Gifty Aryee, told the BBC her Intensive Care Unit alone had lost 20 nurses to the UK and US in the last six months – with grave implications. “Care is affected as we are not able to take any more patients. There are delays and it costs more in mortality – patients die,” she said. She added that seriously ill patients often had to be held for longer in the emergency department due to the nursing shortages. One nurse in the hospital estimated that half of those she had graduated with had left the country – and she wanted to join them.’All our experienced nurses gone’The BBC found a similar situation at Cape Coast Municipal Hospital. The hospital’s deputy head of nursing services, Caroline Agbodza, said she had seen 22 nurses leave for the UK in the last year. “All our critical care nurses, our experienced nurses, have gone. So we end up having nothing – no experienced staff to work with. Even if the government recruits, we have to go through the pain of training nurses again.”Smaller clinics are also affected by staff migration because even one nurse leaving a small health centre can have a large knock-on effect. At Ewim Health Clinic in Cape Coast, one nurse has left their small emergency department and another has left the outpatients unit. Both nurses were experienced and had found jobs in the UK. The chief doctor there, Dr Justice Arthur, said the effects were enormous. “Let’s take services like immunisation of children. If we lose public health nurses, then the babies that have to be immunised will not get their immunisation and we are going to have babies die,” he told the BBC.He said adult patients would also die if there were not enough nurses to look after them after surgery.Most of the nurses that the BBC team spoke to wanted to leave Ghana due to the fact they could earn more elsewhere. At Kwaso healthcare centre near the city of Kumasi, Mercy Asare Afriyie explained that she was hoping to find a job in the UK soon. “The exodus of nurses is not going to stop because of our poor conditions of service. Our salary is nothing to write home about and in two weeks you spend it. It’s from hand to mouth.” Ghanaian nurses told the BBC that in the UK they could more than seven times what they are receiving in Ghana.Perpetual Ofori-Ampofo from Ghana’s Nurses and Midwives Association said her country’s healthcare system needed more help. “If you look at the numbers, then it is not ethical for the UK to recruit from Ghana because the numbers of professional nurses compared to trainee or auxiliary nurses is a problem for us,” she said. But she added that it was not possible to stop nurses from leaving as migration was a right and that the Ghanaian government needed to do more to persuade them to stay. The health ministry in the capital, Accra, declined to comment. Ghana is on the World Health Organization’s list of 55 vulnerable countries, which have low numbers of nurses per head of population. The list – dubbed by some as the “red list” – is designed to discourage systematic recruitment in these countries. The UK government recently gave £15m ($18.6m) to Ghana, Nigeria and Kenya to help boost their healthcare workforces. But the country is known to be looking at brokering a formal deal with Ghana whereby it might be able to recruit more proactively in return for giving the government there a sum of money per nurse. It already has a similar agreement with Nepal. But the ICN’s Mr Catton questioned whether it was enough. He told the BBC that he believed such deals were “trying to create a veneer of ethical respectability rather than a proper reflection of the true costs to the countries which are losing their nurses”. The WHO’s Director of Health Workforce, Jim Campbell, explained to the BBC that Brexit had been a factor in the UK turning to African countries for nurses to fill NHS vacancies. “The labour market is extremely competitive around the world and, having closed off the potential labour market from European freedom of movement, what we’re seeing is the consequences of that in terms of attracting people from the Commonwealth and other jurisdictions.”More on this storyNHS too reliant on overseas recruits, says unionPublished5 August 2022NHS in England facing worst staffing crisis, MPs warnPublished25 July 2022Half of new nurses and midwives come from abroadPublished18 May 2022Will $3bn IMF loan solve Ghana’s economic crisis?Published18 May

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The digital dark matter clouding AI

Artificial intelligence has entered our daily lives. First, it was ChatGPT. Now, it’s AI-generated pizza and beer commercials. While we can’t trust AI to be perfect, it turns out that sometimes we can’t trust ourselves with AI either.
Cold Spring Harbor Laboratory (CSHL) Assistant Professor Peter Koo has found that scientists using popular computational tools to interpret AI predictions are picking up too much “noise,” or extra information, when analyzing DNA. And he’s found a way to fix this. Now, with just a couple new lines of code, scientists can get more reliable explanations out of powerful AIs known as deep neural networks. That means they can continue chasing down genuine DNA features. Those features might just signal the next breakthrough in health and medicine. But scientists won’t see the signals if they’re drowned out by too much noise.
So, what causes the meddlesome noise? It’s a mysterious and invisible source like digital “dark matter.” Physicists and astronomers believe most of the universe is filled with dark matter, a material that exerts gravitational effects but that no one has yet seen. Similarly, Koo and his team discovered the data that AI is being trained on lacks critical information, leading to significant blind spots. Even worse, those blind spots get factored in when interpreting AI predictions of DNA function.
Koo says: “The deep neural network is incorporating this random behavior because it learns a function everywhere. But DNA is only in a small subspace of that. And it introduces a lot of noise. And so we show that this problem actually does introduce a lot of noise across a wide variety of prominent AI models.”
The digital dark matter is a result of scientists borrowing computational techniques from computer vision AI. DNA data, unlike images, is confined to a combination of four nucleotide letters: A, C, G, T. But image data in the form of pixels can be long and continuous. In other words, we’re feeding AI an input it doesn’t know how to handle properly.
By applying Koo’s computational correction, scientists can interpret AI’s DNA analyses more accurately.
Koo says: “We end up seeing sites that become much more crisp and clean, and there is less spurious noise in other regions. One-off nucleotides that are deemed to be very important all of a sudden disappear.”
Koo believes noise disturbance affects more than AI-powered DNA analyzers. He thinks it’s a widespread affliction among computational processes involving similar types of data. Remember, dark matter is everywhere. Thankfully, Koo’s new tool can help bring scientists out of the darkness and into the light.

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Previously unknown antibiotic resistance widespread among bacteria

Genes that make bacteria resistant to antibiotics are much more widespread in our environment than was previously realised. A new study, from Chalmers University of Technology and the University of Gothenburg in Sweden, shows that bacteria in almost all environments carry resistance genes, with a risk of them spreading and aggravating the problem of bacterial infections that are untreatable with antibiotics.
“We have identified new resistance genes in places where they have remained undetected until now. These genes can constitute an overlooked threat to human health,” says Erik Kristiansson, a professor in the Department of Mathematical Sciences.
According to the World Health Organisation (WHO), antibiotic resistance is one of the greatest threats to global health. When bacteria become resistant to antibiotics, it becomes difficult or impossible to treat illnesses such as pneumonia, wound infections, tuberculosis and urinary tract infections. According to the UN Interagency Coordination Group on Antimicrobial Resistance (IACG) 700,000 people die each year from infections caused by antibiotic-resistant bacteria.
Looking for resistance genes in new environments
The genes that make bacteria resistant have long been studied, but the focus has traditionally been on identifying those resistance genes that are already prevalent in pathogenic bacteria. Instead, in the new study from Sweden, researchers have looked at large quantities of DNA sequences from bacteria to analyse new forms of resistance genes in order to understand how common they are. They have traced the genes in thousands of different bacterial samples from different environments, in and on people, in the soil and from sewage treatment plants. The study analysed 630 billion DNA sequences in total.
“The data requires a great deal of processing before information can be obtained. We have used metagenomics, a methodology, that allows vast quantities of data to be analysed,” says Juan Inda Díaz, a doctoral student in the Department of Mathematical Sciences, and the article’s lead author.

The study showed that the new antibiotic resistance genes are present in bacteria in almost all environments. This also includes our microbiomes — the genes of the bacteria found in and on people — and, more alarmingly, pathogenic bacteria, which can lead to more infections that are difficult to treat. The researchers found that resistance genes in bacteria that live on and in humans and in the environment were ten times more abundant than those previously known. And of the resistance genes found in bacteria in the human microbiome, 75 percent were not previously known at all.
The researchers stress the need for more knowledge about the problem of antibiotic resistance.
“Prior to this study, there was no knowledge whatsoever about the incidence of these new resistance genes. Antibiotic resistance is a complex problem, and our study shows that we need to enhance our understanding of the development of resistance in bacteria and of the resistance genes that could constitute a threat in the future,” says Kristiansson.
Hoping to prevent bacterial outbreaks in the healthcare sector
The research team is currently working on integrating the new data into the international EMBARK project (Establishing a Monitoring Baseline for Antibiotic Resistance in Key environments). The project is coordinated by Johan Bengtsson-Palme, an assistant professor in the Department of Life Sciences at Chalmers, and aims to take samples from sources such as wastewater, soil and animals to get an idea of the way in which antibiotic resistance is spreading between humans and the environment.

“It is essential for new forms of resistance genes to be taken into account in risk assessments relating to antibiotic resistance. Using the techniques we have developed enables us to monitor these new resistance genes in the environment, in the hope that we can detect them in pathogenic bacteria before they are able to cause outbreaks in a healthcare setting,” says Bengtsson-Palme.
More about the study
The researchers used DNA from two public databases. The first database, ResFinder, contains a couple of thousand previously known antibiotic resistance genes in bacteria. The researchers expanded these with a large number of new resistance genes that they had found through an analysis of bacterial DNA. The known and new resistance genes amounted to 20,000 in total.
The second database, MGnify, contains large quantities of bacterial DNA from different sources such as bacteria living on and in people, in sewage treatment plants and from the soil and water. These were analysed to investigate how common the various resistance genes were in bacterial DNA. The study analysed 630 billion DNA sequences in total and the results showed that the resistance genes are present in almost all environments. Prior to this study, there was no knowledge about the incidence of these new resistance genes.
The method used by the researchers is called metagenomics, and is not new, but so far has not been used to analyse new types of antibiotic resistance genes in such large quantities. Metagenomics is a method of studying the metagenome, which is the complete gene set of all different organisms in a given sample or within a given environment. Using the method, it is also possible to study microorganisms that cannot be grown in a lab.
This study has been carried out by Juan Salvador Inda-Díaz, David Lund, Marcos Parras-Moltó, Anna Johnning, Johan Bengtsson-Palme and Erik Kristiansson. The researchers work at Chalmers University of Technology, the University of Gothenburg and Fraunhofer-Chalmers Centre in Sweden.

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Moving towards a more inclusive approach to medicine

The first human genome, which has served as the reference until now, was released approximately 20 years ago. It was a landmark accomplishment that had a huge impact on biomedical research and changed the way scientists study human biology. But it was based on just a few individuals and did not capture the full genetic diversity of the human population.
An important step forward for both biology and biomedical research
“Since this reference has been at the core of most genomic analysis, it leads to a bias and we might miss important things happening in regions of the human genome that are not present in the reference,” says Guillaume Bourque, a professor in the Department of Human Genetics at McGill University and the Director of Bioinformatics at the McGill Genome Center. He is among a large group of scientists who have recently published an article in Natureaboutthe first generation of a new type of reference genome, called a pangenome, that represents 47 individuals that are as genetically diverse as possible, from Africa, Asia, and the Caribbean, to name just a few regions.
The researchers revealed that every time they sequenced a human genome, they found pieces of human DNA that were unique to each individual. The pangenome allows the integration of this new information into the reference. This may eventually have significant impacts in terms of developing targeted medical treatments associated with these unique or population-specific DNA sequences.
Pangenome should lead to deeper understanding of disease responses
Bourque adds, “This is very exciting because we can now look into regions of the genome that are present in some individuals but missing from the reference. The work of my PhD student Cristian Groza showed that we can detect 2-3% more active regions in the human genome that were missed before. While 2-3% may seem insignificant, those are regions that differ from one individual to the next and so they might be important in explaining differences in disease responses for instance. In fact, in a related study, published in Cell Genomics, we detected new regions that differ between individuals and are potentially important in the response to influenza infection. This is just the tip of the iceberg in terms of confirming that there are things actually happening in these new regions of the genome.”
Full consequences of the pangenome reference remain unclear
Some of the benefits of this new pangenome reference have already been demonstrated. But the full implications of this new genetic reference tool remain to be determined since scientists can now study regions of the human genome that they couldn’t explore before. Understanding their potential function and consequence will be the work of hundreds of groups for years to come. A major challenge is that a lot of genomic methods currently rely on a linear reference genome, they will need to be adapted to use a pangenome instead.
The use of the pangenome will also be important in the context of McGill University’s new D2R program whose goal is to mobilize the university’s research expertise to advance, in an inclusive way, the development of the next generation of RNA medicines for viral infections, cancer, and rare diseases.

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Can exercise help counteract genetic risk of disease?

New research has revealed being active could lower the risk of type 2 diabetes, even in people with a high genetic risk of developing the medical condition.
The University of Sydney-led study found higher levels of total physical activity, especially moderate- to vigorous-intensity physical activity, had a strong association with a lower risk of developing type 2 diabetes.
The findings were published in the British Journal of Sports Medicine.
The researchers say the study demonstrates higher levels of physical activity should be promoted as a major strategy for type 2 diabetes prevention, which affects millions of Australians.
The study involved 59,325 adults from the UK Biobank,who wore accelerometers (activity trackers worn on their wrist) at the start of the study and were then followed for up to seven years to track health outcomes.
The UK Biobank is a large-scale biomedical database and research resource containing anonymised genetic, lifestyle and health information from half a million UK participants.

This included genetic markers associated with a higher risk of developing type 2 diabetes. People with a high genetic risk score had 2.4 times the risk of developing type 2 diabetes when compared with those with a low genetic risk score.
The study showed more than an hour of moderate- to vigorous-intensity physical activity per day was associated with a 74 percent lower risk of developing type 2 diabetes when compared with participants who did less than 5 minutes of physical activity,
This was even when other factors, including genetic risk, were accounted for.
Another compelling finding was that participants with a high genetic risk, but who were in the most physically active category, actually had a lower risk of developing type 2 diabetes when compared with those with a low genetic risk but in the least active category.
Senior author Associate Professor Melody Ding from the Charles Perkins Centre and the Faculty of Medicine and Health says although the role of genetics and physical activity in the onset of type 2 diabetes is well established, until now most data was self-reported and there was little evidence whether the genetic risk could be counteracted by physical activity.

“We are unable to control our genetic risk and family history, but this finding provides promising and positive news that through an active lifestyle, one can ‘fight off’ much of the excessive risk for type 2 diabetes.”
Associate Professor Ding says moderate-intensity physical activity describes movements that get you sweating and slightly out of breath, such as brisk walking and general gardening.
Examples of vigorous-intensity physical activity include running, aerobic dancing, cycling uphill or at a fast pace and heavy gardening such as digging — all activities that make you out of breath or cause you to breathe heavily.
Study to help inform public health guidelines
Diabetes is a global public health concern. In 2021, there were 537 million adults living with diabetes worldwide. Almost 1.2 million Australians were recorded as living with type 2 diabetes in 2020.
The findings also hold a strong personal meaning for Associate Professor Ding, whose father was recently diagnosed with type 2 diabetes in his sixties.
“My dad’s side of the family has a history of type 2 diabetes, so the result of the study is extremely heartening for my family and myself. As an already active person, I now have extra motivation to keep this active lifestyle,” says Associate Professor Ding.
“Our hope is that this study will inform public health and clinical guidelines so that it can help chronic disease prevention for health professionals, organisations and the public.”
“I am so delighted to share our research results with a broad audience to let people know that physical activity is health-enhancing, especially for people with high genetic risk. If you have a family history of type 2 diabetes, or even if you don’t, today is the day to start being physically active,” says PhD candidate Mengyun (Susan) Luo, who led the study.

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Global response to antimicrobial resistance 'insufficient'

Governments around the world must do more to tackle the growing threat of drug-resistant infections, new research suggests.
National action plans to tackle the threat from antimicrobial resistance (AMR), which occurs when bacteria, viruses, fungi and parasites stop responding to medicines designed to treat them, were developed by more than 100 countries.
The plans focus on designing policies to curb AMR and devising tools to implement the policies — but they do not adequately factor in monitoring and evaluation.
The new research, carried out by experts at the universities of Leeds, Edinburgh and Hamburg, is the first large-scale analysis of these plans. They were designed after encouragement from the World Health Organisation, which has declared AMR one of the top 10 public health threats facing humanity.
Lead author Jay Patel, undergraduate dental student in the University of Leeds’ School of Dentistry, said: “Our analysis showed that countries were highly focused on designing AMR policies, and thinking about what tools would be required to implement those, but they generally did not consider how they would monitor and evaluate the impact of those efforts.
“This suggests that the international response may be inadequate to meet the scale and severity of AMR. This is particularly concerning in low and middle-income countries, where action plan activities often lack sustainable funding — relying instead on funds from foreign donors and philanthropies.

“The available evidence also suggests that simply developing a national action plan may not necessarily mean a country is more prepared to respond to the threat of AMR.
“Our study shows that the global response to AMR, and preparedness for the predicted challenges of AMR, require improvement in all locations around the world.”
The research team says governments across the world must strengthen their responses to AMR.
What is antimicrobial resistance?
AMR refers to changes in microbes, particularly bacteria, that cause the drugs used to treat infections to become less effective. AMR has emerged as a defining challenge for global public health in the 21st century. In 2019 alone, AMR was a factor in 4.95 million deaths worldwide — more than half of deaths due to bacterial infections.

Without action, AMR could render many routine antibiotics ineffective, claiming tens of millions of lives annually.
In 2017, the World Health Organization encouraged member states to develop national action plans stipulating how countries would tackle AMR. More than 100 countries have produced action plans, with several being implemented — but there had been no global analysis of the contents of these plans.
Published in The Lancet Infectious Diseases, this new research is the first to comprehensively assess international AMR efforts and national action plans and generate comparable quantitative results across countries and regions.
The 114 action plans, which were created in 2020-21, were evaluated against 54 elements, such as education, stewardship, and accountability, and each awarded a score out of 100. A mean score out of 100 for each country’s plan was then taken from these results.
The findings
The study found that across all plans, there was a greater focus on policy design and implementation tools, but efforts to monitor and evaluate activities are generally poorly-considered.
Of all areas evaluated, accountability and feedback mechanisms were the joint-lowest scoring, followed by education.
Training and professional education across human health, veterinary, and agricultural sectors were insufficient in many countries, with several lacking a sustainable workforce strategy to deliver antimicrobial stewardship policies.
Countries scored well on participation, demonstrating a shared awareness that AMR can only be successfully addressed through engagement with multiple sectors spanning human, animal and environmental health. Infection prevention and control was frequently recognised as a critical objective.
Norway’s response was the highest scoring with 85, followed by the USA with 84 and the UK with 83. The lowest scoring countries were Ukraine and Sierra Leone with 29 points each, and Barbados and Micronesia with 28 points.
The research was funded by the Wellcome Trust and the Leibniz Association. JP, GF and DS are funded by the Wellcome Trust (106635/Z/14/Z). AH, WH and DD are funded by the Leibniz Association (SAS-2021-1-FZB). AJM provides consultancy services to the WHO Regional Office for Africa.

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The look of your eyebrows is in your genes; A new study uncovers genes that define the appearance of eyebrows

The first gene mapping study on eyebrow thickness in Europeans discovered three previously unreported genetic loci, as reported in a Letter to the Editor in the Journal of Investigative Dermatology, published by Elsevier. The study conducted by the International Visible Trait Genetics (VisiGen) Consortium demonstrates that eyebrow appearance has partly the same and partly different underlying genes in people from different parts of the world.
The appearance of human eyebrows is not just a matter of grooming but is in the genes. Eyebrow thickness, as any other appearance trait, is highly heritable. Thus far, genetic knowledge on eyebrow thickness has been very limited and solely restricted to non-Europeans. This study is the first genome-wide association study (GWAS) on eyebrow thickness in Europeans. By identifying new genes and rediscovering some of the genes previously identified in non-Europeans, the study expands genetic knowledge on human eyebrow variation, which is of broad interest and has implications for dermatology and other fields.
Previous studies were performed among Latin American and Chinese individuals, establishing four eyebrow thickness -associated genetic loci. Because no European eyebrow thickness GWAS had been reported, researchers did not know whether the genetic eyebrow thickness effects described in non-Europeans persist in Europeans, or whether there are European-specific genetic loci involved in eyebrow thickness, or both.
Lead investigator Prof. Dr. Manfred Kayser, Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, and co-chair of the VisiGen Consortium responsible for this study, commented, “Despite the immense efforts in mapping genes underlying human complex traits, we still know much more about the genes that make us sick than about those behind our healthy looks. For the first time, we performed a gene mapping study on eyebrow thickness variation in Europeans. Previous genetic knowledge on eyebrow thickness was limited and solely restricted to non-Europeans. We discovered new genes involved in eyebrow variation in Europeans and rediscovered some of the genes previously identified in non-Europeans.”
The study among 9,948 individuals from four groups of European ancestry not only discovered three previously unreported genetic loci associated with eyebrow thickness, but also rediscovered two of the four genetic loci previously found in non-Europeans. Two other genetic loci previously reported in non-Europeans had minimal effects in Europeans, due to very low allele frequencies in Europeans.
Prof. Dr. Kayser concluded, “Our study significantly improves the genetic knowledge of human eyebrow appearance by increasing the number of known genes from four to seven and delivers new targets for future functional studies. By having demonstrated that eyebrow variation is determined by both shared and distinct genetic factors across continental populations, our findings underline the need for studying populations of different ancestries for unveiling the genetic basis of human traits, including, but not restricted to, physical appearance.”

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Coaxing hair growth in aging hair follicle stem cells

Just as people’s joints can get stiff as they age and make it harder for them to move around, hair follicle stem cells also get stiff, making it harder for them to grow hair, reports a new Northwestern Medicine study.
But if the hair follicle’s stem cells are softened, they are more likely to produce hair, the scientists found.
Northwestern scientists discovered how to soften up those stem cells to enable them to grow hair again. In a study in mice published this week in PNAS, the investigators report that they can soften the stem cells by boosting the production of a tiny RNA, miR-205, that relaxes the hardness of the cells. When scientists genetically manipulated the stem cells to produce more miR-205, it promoted hair growth in young and old mice.
“They started to grow hair in 10 days,” said corresponding author Rui Yi, the Paul E. Steiner Research Professor of Pathology and professor of dermatology at Northwestern University Feinberg School of Medicine. “These are not new stem cells being generated. We are stimulating the existing stem cells to grow hair. A lot of times we still have stem cells, but they may not be able to generate the hair.
“Our study demonstrates the possibility of stimulating hair growth by regulating cell mechanics. Because of the potential to deliver microRNA by nanoparticles directly into the skin, next we will test whether topically delivered miR-205 can stimulate hair growth first in mice. If successful, we will design experiments to test whether this microRNA can promote hair growth potentially in humans.”
This study was conducted in genetically engineered mouse models. The scientists used advanced microscopy tools, including atomic force microscopy, to measure the stiffness and two-photon microscopy to monitor cell behaviors in live animals.
Other Northwestern authors include Jingjing Wang, Yuheng Fu and Kathleen Green.
The article is titled “MicroRNA-205 promotes hair regeneration by modulating mechanical properties of hair follicle stem cells.”
This study was funded by the National Institute of Arthritis and Musculoskeletal and Skin Diseases grants AR066703, AR071435, AR043380, AR041836 and P30AR075049 of the National Institutes of Health.

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Study shows promising treatment for tinnitus

Tinnitus, the ringing, buzzing or hissing sound of silence, varies from slightly annoying in some to utterly debilitating in others. Up to 15% of adults in the United States have tinnitus, where nearly 40% of sufferers have the condition chronically and actively seek relief.
A recent study from researchers at the University of Michigan’s Kresge Hearing Research Institute suggests relief may be possible.
Susan Shore, Ph.D., Professor Emerita in Michigan Medicine’s Department of Otolaryngology and U-M’s Departments of Physiology and Biomedical Engineering, led research on how the brain processes bi-sensory information, and how these processes can be harnessed for personalized stimulation to treat tinnitus.
Her team’s findings were published in JAMA Network Open.
The study, a double-blind, randomized clinical trial, recruited 99 individuals with somatic tinnitus, a form of the condition in which movements such as clenching the jaw, or applying pressure to the forehead, result in a noticeable change in pitch or loudness of experienced sounds. Nearly 70% of tinnitus sufferers have the somatic form.
According to Shore, candidates with bothersome, somatic tinnitus, as well as normal-to-moderate hearing loss, were eligible to participate.

“After enrollment, participants received a portable device developed and manufactured by in2being, LLC, for in-home use,” she said. “The devices were programmed to present each participant’s personal tinnitus spectrum, which was combined with electrical stimulation to form a bi-sensory stimulus, while maintaining participant and study team blinding.”
Study participants were randomly assigned to one of two groups. The first group received bi-sensory, or active, treatment first, while the second received sound-alone, or control, treatment.
For the first six weeks, participants were instructed to use their devices for 30 minutes each day. The next six weeks gave participants a break from daily use, followed by six more weeks of the treatment not received in the beginning of the study.
Shore notes that every week, participants completed the Tinnitus Functional Index, or TFI, and Tinnitus Handicap Inventory, or THI, which are questionnaires that measure the impact tinnitus has on individuals’ lives. Participants also had their tinnitus loudness assessed during this time.
The team found that when participants received the bi-sensory treatment, they consistently reported improved quality of life, lower handicap scores and significant reductions in tinnitus loudness. However, these effects were not seen when receiving sound-only stimulation.
Further, more than 60% of participants reported significantly reduced tinnitus symptoms after the six weeks of active treatment, but not control treatment. This is consistent with an earlier study by Shore’s team, which showed that the longer participants received active treatment, the greater the reduction in their tinnitus symptoms.
“This study paves the way for the use of personalized, bi-sensory stimulation as an effective treatment for tinnitus, providing hope for millions of tinnitus sufferers,” said Shore.
Auricle Inc., the exclusive licensee of the patents related to the bi-sensory stimulation, was launched with the help of Innovation Partnerships, the central hub of research commercialization activity at the University of Michigan. Auricle will work towards gaining regulatory clearance and then commercializing Shore’s novel bi-sensory tinnitus treatment.

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