Articles tagged with Human Genetics
A new NIH study has identified common genetic markers underlying various substance use disorders, suggesting a link to dopamine signaling regulation. The findings may lead to more effective treatments and prevention strategies for multiple substance use disorders, including those with co-occurring mental health conditions.
Researchers identified high expression of glypican-1 in primary solid tumors, correlating with poor prognosis in various cancer types. Suppression of GPC1 attenuated cancer cell proliferation, suggesting its potential as a novel diagnostic tool and target for therapy.
The study sheds light on Beethoven's health problems, including progressive hearing loss and chronic gastrointestinal complaints. Genetic risk factors for liver disease were identified, and evidence of a hepatitis B virus infection was found in the composer's final months.
A new study links shorter telomeres to multiple changes in the brain associated with dementia, including reduced grey matter volume and a thicker cerebral cortex. Longer telomeres were found to be protective, reducing the risk of dementia but not stroke or Parkinson's disease.
Researchers develop unsupervised machine learning algorithm to classify osteosarcoma at diagnosis based on gene expression modules. This approach enables personalized treatment strategies for osteosarcoma patients.
Researchers have successfully used AAV1.NT-3 gene therapy to improve muscle physiology and prevent age-related sarcopenia in mice. The treatment resulted in restored muscle mass, strength, and neural connections, offering a potential new option for managing this debilitating condition.
Children with Down syndrome are highly vulnerable to developing aggressive leukaemia due to a defect in the RUNX1 gene, which regulates blood cell formation. Researchers have identified a specific variant of the gene that promotes leukaemia development and discovered potential therapeutic approaches to correct this malfunction.
A study found that a commercial water purifier may have caused Mycobacterium abscessus infections in 4 cardiac surgery patients due to chlorine depletion. The hospital's water system was contaminated via municipal water, emphasizing the importance of monitoring and preventing mycobacteria.
Researchers analyzed ancient DNA from Cueva del Malalmuerzo in southern Spain, uncovering the oldest known human genome from this region. The study found a direct genetic link between the new genome and earlier populations in Belgium and beyond, shedding light on the Iberian Peninsula's role as an Ice Age refuge.
Researchers found that severe herpesvirus infections can strongly activate host cellular immunity, leading to a therapeutic effect on refractory adult T-cell leukemia/lymphoma. This activation may play an important role in the survival of patients with this intractable disease.
Researchers identified 91 genes associated with fat distribution in women, which may lead to metabolic health issues. The study found that a specific gene, SNX10, is linked to higher waist-to-hip ratios and cardiovascular disease risk in women.
Researchers identified a rare neurological disease in three children associated with mutations in the ATG4D gene, which plays a crucial role in cellular recycling. The study suggests that this genetic variation may lead to insufficient cellular recycling, causing speech and motor impairment.
A study published in Science reveals that three faulty genes fail to regulate the immune system's response to SARS-CoV-2, leading to inflammatory overload and multisystem inflammation syndrome in children (MIS-C). The findings provide a mechanistic explanation for Kawasaki disease-like symptoms in these patients.
A nationwide survey found that Americans are more willing to use polygenic embryo selection (PGT-P) than germline gene editing for educational purposes, with high-education individuals under 35 being the most accepting. The study also highlights concerns about potential health and social inequalities.
Bacteria can survive antibiotics without acquiring new genes or mutating existing ones by maintaining high electrochemical energies. These high-energy cells exhibit a wide range of energy levels despite being in a state of arrested growth, enabling them to adapt and spread rapidly.
A recent NTU Singapore study reconstructed the history of The Sundaland using paleogeography and population genetics to show that rapid sea-level rise drove early settlers to migrate, increasing genetic diversity. This finding provides insight into how climate change can profoundly impact human populations.
Scientists recreated ancient human and Denisovan noses to compare their olfactory receptor genes, finding differences in sensitivity to various odors. This research sheds light on how our closest genetic relatives perceived and interacted with their environment.
Researchers have solved an 80-year-old medical mystery that causes kidney damage in children and can be fatal in babies. They discovered a gene mutation is the primary cause, but found that around 10% of patients without the mutation still experience symptoms.
Researchers analyzed ancient genomes from ten individuals up to 7,500 years old in Siberia, revealing a previously unknown hunter-gatherer population that contributed to many contemporaneous and subsequent populations across North Asia. The genetic data show a mix of paleo-Siberian and Ancient North Eurasian people, with links to hunte...
A team of researchers at the University of Iowa has identified three genes that are directly associated with cleft lip and palate. The study, which analyzed DNA from over 1,000 patients with the disorder, found that deleting these genes can cause cleft lip or palate.
Researchers advocate for descendant community involvement in ancient DNA research to ensure benefits and risks are shared fairly. Without such guidance, the science can be exploitative, perpetuating colonial practices and harming modern Indigenous groups.
A new study analyzes 48 ancient human genomes and over 16,500 modern Scandinavian genomes to reconstruct the region's genetic history. The research shows that ancestries introduced during the Viking period later declined, suggesting ancient immigrants contributed proportionately less to the modern gene pool.
Researchers at the University of Bonn have uncovered new correlations between genetic mutations and cleft lip and palate. The study found that new mutations near the SPRY1 gene and transcription factor Musculin may contribute to disease risk, providing new insights into the biological mechanisms underlying the condition.
A new study identifies the FGF14 gene as the most common genetic cause of late-onset ataxia in Quebec, a debilitating neurodegenerative condition. The discovery opens treatment possibilities and may lead to improved diagnosis for thousands of people worldwide.
Researchers investigate how lung cancers evade the immune system to develop more effective immunotherapy treatments. The study aims to uncover a new way lung cancers disguise themselves from the immune system, potentially leading to improved treatment outcomes.
Researchers discovered 10 novel genetic loci associated with osteoarthritis, which are robustly found in every population ancestry studied. The study also identified genes expected to contribute to OA included targets for existing drugs against cancer, epilepsy and acne.
Researchers discovered a genetic mutation in the THBS1 gene linked to severe childhood glaucoma, which may improve disease screening and treatment. The finding could lead to earlier diagnosis and more targeted therapies for children at risk.
Researchers at VCU Massey Cancer Center discovered the inactivation of NF1 as a potential genetic driver for pancreatic cancer. The study suggests that targeting NF1 could create vulnerabilities for therapeutic advantage in mutant KRAS-bearing tumors.
Researchers analyzed genetic data from 233 patients with ovarian cancer and found that precise localization of BRCA gene mutations is crucial for effective treatment. The study suggests that PARP inhibitors can be highly effective in patients with mutations in the DNA-binding domain, leading to improved overall survival rates.
A new study suggests that cross-trait assortative mating may be the underlying cause of observed genetic correlations between human traits, rather than widespread pleiotropy. The findings have significant implications for understanding the genetic basis of psychiatric disorders and other complex conditions.
A new guideline aims to standardize human genomic sequencing research in Canada by establishing essential core consent elements. This will enable researchers to collect patient data in a consistent manner, ensuring transparency for participants and streamlining the review process.
Research at Tel Aviv University found that high-intensity aerobic exercise increases glucose consumption in internal organs, reducing energy availability for tumors. The study reduced the risk of metastatic cancer in humans and animal models by up to 72%.
Researchers identified a genetic variant that predisposes people to being slim, carried by 60% of Europeans. The variant affects the amount of fat stored in the body and is associated with the biochemical signalling pathway that tells cells what nutrients are available.
A genetic variant associated with a 10-15% reduction in fat storage has been identified in 60% of Europeans. Researchers studied the effect of this variant in mice and found it to be linked to leanness, highlighting the complex interplay between genetics and obesity.
A study published in PLOS Genetics found that genetic variants linked to systemic lupus erythematosus (SLE) may also provide protection against severe COVID-19 infection. The researchers identified TYK2, a gene involved in interferon production, as the key locus behind this protective effect.
Researchers used DNA from two ancient human individuals to unravel the deep demographic history of South America, providing new genetic evidence supporting existing archaeological data. They also discovered migrations along the Atlantic coast for the first time and found evidence of Neanderthal ancestry within ancient genomes.
Mount Sinai researchers catalogued thousands of sites in the brain where RNA is modified throughout the human lifespan, increasing with age. This study provides a model depicting how A-to-I editing evolves over a lifetime, shedding light on its role in health and disease.
Researchers found a longer PR interval and prolonged QT duration in genetically modified pig hearts after transplantation into humans, indicating signs of electrical disease. The study provides a foundation for future research to better understand xenotransplantation's effects on the heart's electrical system.
Researchers at the University of Seville have discovered a method to attack cancer cells using an origin-of-life molecule. The study found that inhibiting RNA production boosts the utility of radiation therapy in cancer cells, offering a promising approach to treating various types of cancer.
A new study has discovered that MTCH2, a protein essential in various cellular processes, acts as a 'door' for proteins to access the mitochondrial membrane. The finding opens up potential avenues for cancer treatments by harnessing apoptosis, a programmed cell death mechanism.
A genome-wide association study identified three significant loci for frozen shoulder, including WNT7B, associated with a nearly sixfold increase in the odds of developing the condition. The findings may provide new insights into the development and treatment of adhesive capsulitis.
The study found that genetic variants associated with height are concentrated in regions covering just over 20% of the genome. The variants identified explain 40% of the variation in height for people of European ancestry, and around 10-20% for those of non-European ancestry.
A University of California, Berkeley study found that aging and environment are more important than genetic variation in affecting gene expression. As individuals age, their gene expression profiles diverge, making genetics less useful in predicting which genes are ramped up or down.
Researchers at IMBA found that Kipferl helps distribute Rhino to piRNA clusters, avoiding sequestration to Satellite arrays. This control mechanism ensures the effective silencing of jumping genes and maintains genome stability.
Researchers from the Netherlands Cancer Institute have discovered a new 'mystery gene' responsible for maturing the actin protein, a main component of the cell skeleton. The findings shed light on the complex process by which proteins are completed and functional in cells, with potential implications for understanding muscle diseases.
A recent study found that cancer biomarker data is biased towards European populations, potentially misclassifying patients of Asian or African descent. The researchers propose a computational approach to correct this bias, which could have significant implications for treatment selection.
A recent genetic study has shed new light on the Anglo-Saxon migration to Britain, revealing that around 75% of Eastern and Southern English populations descended from continental migrants. The integration of these migrant families with the existing British population varied by region and community.
Researchers have genetically engineered human muscle cells to take up more sugar from the blood, reducing blood glucose levels by 20% in diabetic mice. The new tissue also shows promise for a single injection of tissue providing long-lasting glucose control.
Two studies identify 22 previously unreported NFKB1 variants linked to immune system dysfunction, including reduced expression of the protein and altered gene expression. The findings suggest targeted inhibition of NFkB signaling pathway components as an attractive therapeutic approach for treating these diseases.
A team of researchers found that chromatin motion on damaged DNA sites moves faster than those away from damage, with the group moving as a unit over short distances. This coherent movement is crucial for effective DNA repair, preventing damaged DNA from harmful contact and improving accuracy.
Researchers sequenced 2,574 pediatric ALL patient samples, identifying 376 significantly mutated genes that potentially drive cancer development. The study provides a foundational guide for physicians and scientists to understand disease development and improve treatment outcomes.
A new study reveals that the emergence of a new gene called PGBD1 is linked to the evolution of a new structure in nerve cells. PGBD1 controls paraspeckles, tiny structures that act like traps for RNAs and proteins, and its regulation is crucial for nerve cell development.
Researchers have developed a novel DNA-based method to identify people at greater genetic risk of developing Alzheimer's disease before symptoms appear. The method uses data on common DNA variants from over 7.1 million individuals and predicts a person's risk of Alzheimer's, depending on which DNA variants they have.
Researchers identified 15 instances of mucinization, where new mucins emerged from non-mucin proteins by adding repeating sequences. This process transformed the proteins into mucins with gooey consistency, contributing to their various biological functions.
A new study reveals that the protein CHIP can regulate insulin receptor signals more efficiently alone than in a paired state. This finding suggests that maintaining a balance between monomeric and dimeric states of CHIP is crucial for proper cellular function.
A recent study published in the Journal of Aging and Physical Activity found that higher levels of light physical activity and moderate-to-vigorous physical activity were associated with lower risk of death. In contrast, higher sedentary time was linked to increased mortality risk, regardless of genetic predisposition for longevity.
Researchers discovered that pairs of unrelated 'look-alikes' share similar genetic variations, physical characteristics, and even behavior. Genome-wide analyses found common single nucleotide polymorphisms (SNPs) in nine out of 16 pairs, with similarities in weights and lifestyle factors.
A new study published in Cell Reports Methods introduces a dating method called Temporal Population Structure (TPS) that uses artificial intelligence to accurately date human remains up to 10,000 years old. The method has shown promise in analyzing approximately 5,000 human remains from the Late Mesolithic period and modern times.
A study found that genetically unrelated individuals with extreme facial similarities share common genetic variants, but differ in epigenetic and microbiome landscapes. The results suggest a molecular basis for human resemblance, with potential implications in forensics and biomedicine.
A genome-wide analysis of five reading- and language-based skills in thousands of people identified shared biological bases. The study found genetic links with language-related brain areas and individual differences in neuroanatomy, highlighting the complex interplay between nature and nurture.