Researchers identified four genomic regions associated with longevity genes and found 12 rare protein-altering genetic variants that might influence longevity. One of these variants mapped to the CGAS gene, which is involved in producing an inflammatory response when DNA detects damage.
A large-scale European study found that screening people with Li-Fraumeni syndrome can significantly reduce healthcare costs. The study showed that prevention costs per patient were roughly nine times lower than treatment costs, and patients who underwent regular screening had better clinical outcomes.
Researchers have found a potential new treatment for DHDDS-related disease by creating mini-brains from patients' cells and testing vitamin B3. The study showed significant improvements in patients' symptoms, including reduced tremors and increased energy levels.
A large-scale study found dozens of genetic mutations linked to cancer type and ancestry, improving survival predictions in breast and glioma cancers. Combining ancestry data with tumour analyses enhances prediction accuracy, particularly for pancreatic cancer patients.
Researchers found that certain genetic variants increase the risk of steroid side effects, particularly osteoporosis and stroke. Integrating polygenic risk scores into steroid prescribing can improve risk assessment and identify patients at high risk, allowing for closer monitoring or alternative treatments.
A new non-invasive prenatal testing technique, called non-invasive foetal sequencing (NIFS), detects a high proportion of genetic variants associated with clinically important conditions. NIFS is estimated to be cheaper and safer than current invasive methods, while providing earlier access to genetic information.
The NHS PROGRESS study integrates pharmacogenomic guided prescribing into routine clinical practice, providing actionable guidance to clinicians. The study found that over 95% of patients received a pharmacogenomic result related to their medication, with nearly one in four prescriptions adjusted to safer or more effective treatments.
Researchers have identified a genetic change responsible for severe neuropathy after infection, which affects nerve function and can be triggered by infections such as Covid-19. The discovery provides insights into the mechanisms causing the condition and may lead to the development of effective treatments.
A new blood test can diagnose over 8,000 proteins in a single test, covering more than 50% of known Mendelian and mitochondrial disease genes. This rapid testing method offers significant benefits for patients, families, and healthcare systems, including reduced diagnostic time and lower costs.
Researchers have identified cell-free RNA signatures that can predict preterm birth over four months before delivery date. This discovery has the potential to revolutionize prevention strategies and save millions of lives worldwide, where 13.4 million newborns are delivered prematurely each year.
A case highlights the need for European regulation to prevent the birth of children with inherited cancer-causing genetic mutations from the same donor. Currently, laws on sperm donation vary across countries, and a lack of harmonised regulation poses risks.
Researchers have identified shared genetic links between disturbed sleep, neurodevelopmental and neuropsychiatric conditions. Polygenic scores for certain conditions are associated with chronotype and insomnia, suggesting potential new therapies.
Researchers have made progress in understanding how mosaic embryos, comprising both normal and abnormal cells, self-correct to develop normally. This knowledge will help increase the number of suitable embryos for transfer in women undergoing IVF, reducing stress and improving pregnancy outcomes.
Researchers have developed a way to classify host immunity in individuals, enabling the early identification of those who won't respond well to regular vaccines. This allows for tailored vaccine regimes to provide long-lasting immunity, reducing influenza-related illness and healthcare costs.
Mosaic embryo transfers from a large-scale study showed only 1.2% of preimplantation mosaicism persisted throughout pregnancy or postnatally. Researchers identified the mechanism behind self-correction, enabling better IVF outcomes for women with mosaic embryos.
Researchers found that individuals with lower socioeconomic status have a greater genetic susceptibility to developing many complex diseases, while those with higher SES are at increased risk of certain types of cancer. The study aims to improve personalized medicine by incorporating genetic information into healthcare protocols.
Japanese scientists found that polygenic risk scores (PRSs) for embryo selection are inaccurate and highly inconsistent. PRSs can only capture parts of the genetic component and may lead to unnecessary embryo discarding, making it unethical in fertility treatment.
Researchers from Australia have shown that precision medicine can improve diagnosis accuracy and two-year progression-free survival in young cancer patients. By using whole genome sequencing, they were able to identify germline cancer predisposition variants in over 70% of children with high-risk cancers.
A chatbot-based system improved the informed consent process for genomics research studies, leading to faster completion, higher understanding, and increased accessibility. The study involved 72 families and found that 96% of participants passed a quiz assessing their knowledge, with 86% reporting a positive experience.
Researchers have developed a polygenic risk score for colorectal cancer, which can estimate an individual's likely disease risk and identify those who may benefit from earlier screening. The score can also help determine more appropriate ages to start screening based on genetic risk.
Researchers have developed an early detection algorithm to predict patients with Xeroderma pigmentosum who may develop neurodegeneration. The study used pluripotent stem cells and multi-omic technologies to identify possible drug targets, potentially slowing or halting the onset of neurodegeneration.
Researchers used machine learning to build predictive models for nine common diseases based on genetic information and blood biomarkers. Blood biomarkers provided better prediction in nearly all cases, especially for near-term risk, suggesting direct links between some measures and the pre-symptomatic phase of disease.
Researchers developed Eye2Gene, an AI system that accurately identifies genetic causes of inherited retinal diseases from retinal scans. The system achieved higher accuracy than human experts in identifying causative genes, with a ranking score above 70% in over 70% of cases.
Researchers found thalidomide to be an effective treatment for severe arteriovenous malformations (AVMs), reducing symptoms and improving quality of life in patients. The study showed a striking reduction in symptoms, with some patients experiencing complete cure after treatment.
The use of polygenic risk scores in pre-implantation genetic testing is unproven and can lead to discrimination and stigmatization. ESHG argues that there is no evidence PRSs can predict disease likelihood in unborn children, making their application premature.
A study published by the European Society of Human Genetics found that genetic testing can identify the cause of childhood epilepsy in half of those studied, allowing for tailored treatments. This breakthrough discovery has the potential to improve treatment possibilities and avoid unnecessary procedures.
Belgian researchers have developed an all-in-one test to identify healthy embryos for transfer, reducing the risk of passing de novo genetic diseases. The test uses long read sequencing and can detect copy number variants and single nucleotide variants in a single workflow.
International genetic research projects struggle with GDPR interpretation due to ambiguous rules on personal data, consent, and data transfer outside the EU/EEA. Measures to reduce these challenges are proposed, including a more genetics-sensitive approach with regulators.
Research identifies genetic variants associated with adherence to medication, suggesting a link between individual behavior and biological factors. The study found positive correlations between adherence and traits controlled by multiple genes, such as educational achievement and body mass index.
A recent study found that genetic risk scores can help diagnose epilepsy in individuals with a single seizure, distinguishing them from those with other causes. The researchers analyzed data from over 9,600 individuals with epilepsy-related diagnoses and found a significant correlation between genetic risk and epilepsy diagnosis.
A paper in the European Journal of Human Genetics warns that coercive DNA collection is unethical and damaging to medical research. The authors call for a mass reassessment of literature and require further information on consent and ethical approvals.
A genetic risk score has been developed to help identify individuals who are likely to fracture early, even those with normal bone mass density. The study involved 11,351 participants and found that the genetic risk score can predict the timing of fractures in elderly people.
A recent study analyzing data from over three million individuals found widespread sex-differential participation bias, suggesting that men and women are more likely to participate in genetic studies based on different characteristics. This bias can impact the accuracy of results and conclusions drawn from genetic association studies.
Italian scientists have identified common genetic susceptibility genes linked to COVID-19 outcomes, including severe pneumonia. The study's findings suggest that these genes may determine disease progression and could aid in the development of new treatments.
Clinical genetics services are struggling to cope with the influx of direct-to-consumer (DTC) genetic testing referrals, with many GPs ill-equipped to interpret results. The lack of resources and funding is exacerbating the issue, with only 10% of DTC test results validated.
A genetic study found that genes regulating iron metabolism are responsible for excess liver iron in populations of European ancestry. The research suggests a systemic and not organ-related problem, with implications for treatment and therapy.
The EU General Data Protection Regulation (GDPR) complicates data sharing in research, with participants' consent withdrawal rights and limited data retention posing challenges. Researchers advocate for GDPR-compliant repositories and adaptable funding policies to ensure safe data sharing.
The PREGCARE study provides personalized pre-conception risk evaluation for healthy couples with a child affected by a developmental disorder. The researchers aim to identify families at high risk of recurrence and provide accurate assessment of their chances of having an unaffected child.
A new non-invasive prenatal test has been developed to diagnose sickle cell disease in unborn babies. The test uses cell-free fetal DNA and has shown promising results, with successful diagnoses achieved in 21 out of 24 pregnancies. Further development and validation are needed before the test can be introduced into clinical practice.
Researchers analyzed genomic data from over 31,000 parent-child trios and identified 307 significantly enriched genes, 49 of which are novel. The study explains about 51% of the DNM burden in their dataset, leaving half unexplained, providing clues for future discovery.
A study has identified new potential genetic causes of male infertility, which will help develop better diagnostic tests. Researchers found de novo mutations in genes involved in spermatogenesis, none of which were previously known to cause human infertility.
Researchers used whole exome sequencing and whole genome sequencing to detect genetic causes of neonatal death in unexplained cases. The study found a genetic cause in 23% of prospective cohort samples and strong candidates in 18% of retrospective cohort samples.
Researchers have developed a new analytic method, Time Population Structure (TPS), to date ancient DNA by predicting time based on DNA mutations. TPS has shown results similar to traditional radiocarbon dating, with an average difference of 800 years in age predictions for samples up to 45,000 years old.
Whole genome sequencing (WGS) has the potential to provide early diagnoses for neonates with genetic disorders, leading to changes in medical care and reduced healthcare costs. In a study of over 340 patients, rWGS yielded a diagnosis in 34% of cases, with significant changes in management observed in 67% of those diagnosed.
A web-based tool called KardioKompassi provided personalized genetic risk information to patients and doctors, leading to significant changes in smoking cessation and weight loss rates. The results showed that nearly 90% of participants made better health care choices after receiving their genomic data.
A rapid test can distinguish infants with a specific genetic change from those without it, allowing tailored prescribing and preventing antibiotic-related deafness. The test uses a cheek swab and can produce results in around 40 minutes.
Researchers found that raising the age limit for Lynch syndrome genetic testing can detect new affected families who would not have been identified previously. This can lead to a reduction in deaths from the disease by over 60% over 15 years.
Researchers identified a risk locus for urinary incontinence near the endothelin gene, which is involved in bladder contraction. The study suggests that drugs targeting this pathway may help alleviate symptoms, offering new hope for women suffering from stress and isolated urgency incontinence.
Researchers use aGPS tool to reconstruct ancient DNA, revealing complex and dynamic migration patterns across Europe. The study confirms the theory of massive Yamnaya migration to Central Europe and sheds light on ancient city-state formation.
Researchers found that higher body mass index (BMI) can cause worse cardiovascular health in young adults as young as 17, according to a study using data from the Avon Longitudinal Study of Parents and Children. The study suggests that tackling obesity from an early age may help prevent cardiovascular changes that are precursors to car...