Health

US Researchers Develop New Tool to Predict Disease Risk from Rare Genetic Mutations

Published

1 year ago

August 29, 2025

A team of scientists in New York has developed a new model designed to help doctors interpret complex genetic test results and provide patients with clearer guidance on their health risks. The research, published in the journal Science, could improve early detection of serious conditions and reduce unnecessary medical treatments.

Genetic testing can identify changes, or variants, in a person’s DNA, but interpreting the results is often difficult. While some variants directly cause disease, many others have little or no effect, leaving doctors and patients uncertain about what the findings mean. The problem is compounded by the fact that most diseases result not from a single mutation, but from the combined influence of multiple genes and environmental factors.

To address this challenge, researchers at the Icahn School of Medicine at Mount Sinai built a model that draws on both genetic information and electronic health records (EHRs), which include lab results and a patient’s medical history. By combining these data sources, the model can calculate the likelihood that an individual with a specific variant will develop conditions such as breast cancer or polycystic kidney disease.

“Traditional genetic tests often leave patients in limbo, because the results don’t always provide a clear answer,” said Professor Ron Do, one of the study’s senior authors. “By using real-world medical data—like cholesterol levels and blood counts that are already part of routine care—we can make far more accurate predictions about disease risk.”

The researchers trained the model on more than one million health records and applied it to patients carrying rare genetic mutations. Each patient was assigned a risk score between zero and one, reflecting the probability of developing a particular condition. In total, the team calculated risk scores for more than 1,600 genetic variants.

In some cases, the tool clarified the significance of variants previously labelled as “uncertain.” For example, the model revealed strong links between specific mutations and known diseases, providing new insights for clinicians.

Dr. Iain Forrest, the study’s lead author, said the tool is intended to support, not replace, doctors. “This model could guide decisions on whether a patient needs further screening, preventive steps, or reassurance that their genetic result poses little risk,” he explained.

The team is now working to expand the model by including a wider range of genetic variants, more diseases, and a more diverse patient population to ensure broader accuracy.

“Ultimately, our work highlights a future where clinical data and genetic information can be combined to give patients more personalised and actionable answers,” Do said.

If widely adopted, the approach could change the way genetic testing is used in medicine—helping patients avoid unnecessary interventions while ensuring those at higher risk receive timely care.

Health

North African Dust Set to Worsen Air Quality Across Portugal

Published

22 hours ago

September 4, 2026

Web Reporter

Air quality is expected to deteriorate across much of mainland Portugal over the coming days as dust carried from North Africa moves through the atmosphere, with health authorities warning vulnerable groups to take extra precautions.

Portugal’s Directorate-General of Health (DGS) has issued a warning about the expected decline in air quality, particularly in central and southern parts of the country. The dust is being carried by an air mass originating from the deserts of North Africa and is expected to affect much of mainland Portugal.

The Portuguese Institute for Sea and Atmosphere (IPMA) has also forecast suspended dust on Friday and Saturday.

The DGS said the phenomenon is expected to increase concentrations of naturally occurring inhalable particles, particularly PM10, in the air. Exposure to elevated levels of these particles can affect health, with children, older people and those with existing medical conditions considered more vulnerable.

Health officials are advising people to avoid prolonged physical exertion and reduce outdoor activity while the dust remains in the atmosphere. Residents have also been urged to avoid exposure to tobacco smoke and other sources of irritation.

Children, elderly people and those suffering from chronic respiratory conditions, particularly asthma, are being advised to remain indoors whenever possible. People with cardiovascular disease are also considered at greater risk. The DGS recommends that vulnerable residents keep windows closed where possible during the episode.

People receiving treatment for chronic illnesses have been advised to continue taking their prescribed medication.

The air-quality warning comes as parts of Portugal also face a heightened risk of rural fires amid continuing hot weather.

Eleven municipalities in the districts of Bragança, Guarda, Castelo Branco and Coimbra are under the highest rural fire alert level on Friday, according to IPMA.

The weather agency has also issued yellow heat warnings for several districts, including Bragança, Viseu, Évora, Guarda, Faro, Vila Real, Setúbal, Santarém, Lisbon, Leiria, Beja, Castelo Branco, Coimbra and Portalegre. The warnings remain in place until 7pm on Saturday.

Temperatures are expected to ease slightly from the peak recorded on Thursday, particularly along coastal areas, but conditions will remain warm. Temperatures are forecast to stay above 20C in many areas, including regions south of the Tagus River.

The combination of suspended dust and high temperatures could create additional challenges for people with respiratory and cardiovascular conditions. Authorities are therefore urging vulnerable residents to limit outdoor activity and monitor their health while the dust episode continues.

The DGS has stressed that precautions should remain in place for as long as the poor air-quality conditions persist, particularly for people who are more sensitive to airborne particles.

Health

New Zealand Approves MDMA Treatment for Severe PTSD Under Strict Medical Controls

Published

22 hours ago

September 4, 2026

Web Reporter

New Zealand has authorised two psychiatrists to prescribe pharmaceutical-grade MDMA to patients with severe post-traumatic stress disorder (PTSD), making it only the second country after Australia to permit the drug for clinical treatment.

Wellington psychiatrist Dr Gary Wynn and Auckland psychiatrist Dr Tom Paterson received approval from New Zealand’s medicines regulator, Medsafe, following a regulatory process that lasted more than a year. The approvals allow MDMA to be used in controlled clinical settings as part of treatment for eligible patients.

Deputy Prime Minister David Seymour welcomed the decision, saying PTSD can have a devastating effect on people and remains difficult to treat. Seymour previously supported approval of psilocybin, the active compound in magic mushrooms, for severe depression.

PTSD can develop after people experience or face the threat of traumatic events, including combat, sexual assault and the sudden death of someone close to them. Symptoms can include intrusive memories, anxiety, sleep problems and emotional distress.

Treatment options remain limited in many countries. Two antidepressants are commonly approved for PTSD, but they can take several months to produce an effect and do not work equally well for every patient.

New Zealand’s decision is based partly on results from two international Phase 3 clinical trials conducted by the US-based Multidisciplinary Association for Psychedelic Studies (MAPS) and sponsored by its public benefit corporation, Lykos Therapeutics.

A 2021 trial found that 88% of participants with severe PTSD who received MDMA-assisted therapy experienced clinically significant improvement, while 67% no longer met the diagnostic criteria for PTSD.

A second trial, published in 2023, involved people with moderate-to-severe PTSD. Researchers reported that 71.2% of participants receiving MDMA-assisted therapy no longer met the diagnostic criteria by the end of the study.

The evidence has faced scrutiny in the United States. The US Food and Drug Administration rejected approval of the treatment in 2024, citing concerns about the available evidence for its safety and effectiveness.

US regulators also raised concerns about expectancy bias among participants who had previously used MDMA, which could have affected the reliability of the trial findings.

New Zealand has opted for a tightly controlled approach. The Ministry of Health said MDMA treatment would only be provided alongside psychotherapy in a clinical environment and would not involve take-home doses.

Patients must be at least 18 years old, and treatment must be administered by an authorised psychiatrist as part of a comprehensive care plan.

The approvals mark a significant step for psychedelic-assisted therapy in New Zealand while keeping MDMA use under close medical supervision.

Health

Irregular Sleep Patterns Linked to Higher Anxiety Risk Among Teenagers

Published

2 days ago

September 3, 2026

Web Reporter

Teenagers who regularly change their sleeping patterns between weekdays and weekends may face a greater risk of anxiety, according to a new study from researchers at the University of Southampton in the United Kingdom.

The findings come as students return to school after the summer break, when many adolescents may have become accustomed to later nights and longer mornings. The shift back to early school schedules can create a mismatch between weekday and weekend sleep patterns, a phenomenon researchers describe as “social jet lag.”

A review of 12 studies involving more than 230,000 participants found that teenagers experiencing greater levels of social jet lag were more likely to report higher levels of anxiety. The relationship also appeared to work in the opposite direction, with higher anxiety associated with greater disruption to sleep schedules.

However, researchers stressed that the findings show an association rather than proving that irregular sleep directly causes anxiety.

The study highlights the importance of encouraging healthy and consistent sleeping habits as part of efforts to support adolescent mental health. Anxiety is already one of the most common mental health problems among young people.

The World Health Organization estimates that anxiety disorders affect about 4.4% of children aged 10 to 14 and 5.5% of those aged 15 to 19 worldwide. Such disorders involve persistent fear or nervousness that can be difficult to control.

Researchers say adolescence is a particularly important period for sleep because biological changes naturally alter young people’s body clocks.

Sarah Chellappa, a co-author of the study from the University of Southampton, said teenagers generally experience a shift toward later sleep during puberty.

“During puberty, the body’s internal clock usually shifts back by a few hours,” she said, meaning teenagers naturally become sleepy later and may need to wake later as well.

Early school starts can conflict with this biological change. Social activities, online communication and other demands can also reduce the amount of sleep teenagers get during the week.

Hannah Ravenhall, lead author of the study, said the issue should not be viewed solely as a matter of individual responsibility.

She said broader social systems can influence young people’s sleep and called for greater recognition of the biological changes that occur during adolescence.

The researchers suggested that schools could consider whether their start times adequately reflect teenagers’ changing sleep needs. Parents could also review evening routines, including rules around screen use.

Rather than simply encouraging teenagers to go to bed earlier, the researchers argue that more consistent schedules and changes to the environments in which young people live and study could help support better sleep and mental wellbeing.