Articles tagged with Human Genetics
A genome-wide association study found 150 genetic factors linked to diverticular disease of intestine (DivD), an overlooked and understudied disease. DivD is highly heritable, with 40% of risk inherited, according to researchers.
A new study from Aarhus University has found that applying AI predictions of protein structures enhances the CRISPR technology, making the cuts in a patient's DNA more precise. This discovery may lead to better treatments for patients with genetic disorders and potentially develop cures for various genetic diseases.
Scientists have identified a genetic locus associated with voice pitch, found in the ABCC9 gene, which influences voice characteristics in both men and women. The study also reveals links between voice pitch and cardiovascular health, highlighting the complex relationship between vocal traits and human biology.
A new study reveals a previously unknown way the immune system detects certain viruses, including SARS-Cov-2, using the inflammasome protein CARD8. Researchers found that CARD8 functions differently among various species and even varies between individuals in the human population.
Researchers developed a new biological age indicator, DNAmFitAge, that incorporates physical fitness parameters, showing a correlation with lower mortality risk, coronary heart disease risk reduction, and improved disease-free status in physically fit individuals.
A study by Florida Atlantic University and Duke University reveals that the malaria parasite's biological clock is 'in sync' with its human host's circadian clock. The researchers discovered a 'coupling' mechanism between the parasite and its host, which could lead to new treatments for this deadly disease.
A recent study has uncovered three previously unreported genetic loci associated with eyebrow thickness in Europeans, as well as rediscovering two of the four genetic loci previously found in non-Europeans. The research expands genetic knowledge on human eyebrow variation, with implications for dermatology and other fields.
A new international study reconstructs the legacy of Chile's largest indigenous community, the Mapuche, through genetics and linguistics. The research reveals distinct Mapuche lineages originated locally and have remained in relative isolation, punctuated by episodes of contact with other South American populations.
The study reveals new insights into primate evolution, genetic diversity, and the uniqueness of humans. It also highlights the importance of preserving primate species due to high genetic diversity, which enables adaptation to changing environments.
Researchers, led by Elizabeth King, aim to develop a knowledge base on complex genetic traits using fruit fly models. The project seeks to address the scientific knowledge gap in this field by focusing on interconnectedness among multiple factors.
Researchers have identified 16 genes associated with an increased risk of Spontaneous Coronary Artery Dissection (SCAD), a type of heart attack primarily affecting young to middle-aged women. The study also found that patients with SCAD have some genetic protection from the risk of conventional coronary artery disease.
Researchers analyzed a comprehensive dataset from Catholic parish records and genotype data to reveal how local topographies influenced French Canadian relatedness. They found that geographic features, particularly river networks, shaped Quebec's population structure and contributed significantly to the French Canadian gene pool.
A new study reveals a unique founder population structure in Newfoundland and Labrador, tracing the ancestry of European settlers from South-East Ireland and South-West England. The analysis found multiple population bottlenecks and strong associations between Catholic background and Irish genetic ancestry.
A new study led by UCL researchers finds that a particular gene affecting nose shape is inherited from Neanderthals and may have been influenced by natural selection. The study used data from over 6,000 volunteers and identified 33 genome regions associated with face shape.
Scientists have developed a new method to deliver genetic information to stem cells using nanoparticles coated with a specific polymer, enabling more efficient control over cellular differentiation. This innovation has the potential to improve the efficiency and effectiveness of regenerative medicine treatments.
The study highlights 10% of human genome highly conserved across species, linked to embryonic development and environmental adaptation. It also pinpointed genetic variants associated with exceptional traits like brain size and hibernation, and at-risk species for extinction.
A new study finds that modern-day Scottish, Welsh and Northern Irish people share a common genetic heritage with ancient Pictish populations, contradicting long-held assumptions of exotic origins. The research also reveals surprising genetic similarities between Picts and present-day groups in the UK.
New research suggests neural crest cells retain adaptability even after differentiation, enabling them to 'change their mind' and differentiate anew. This hyper-flexibility has significant implications for regenerative medicine, as these cells have immense potential as treatments to replace and repair damaged body tissue.
Researchers discuss rapamycin's potential to delay cancer onset by slowing cell proliferation and tumor progression. The mTOR pathway is involved in both cancer and aging, making rapamycin a promising chemopreventive agent.
Researchers at Kyoto University have discovered a genetic mutation that causes lethal arrhythmia in humans. The study found that a novel variant of the CALM2 gene produces robust arrhythmogenicity in human-induced pluripotent stem cell-derived cardiomyocytes.
Researchers generated a POLDIP2 knockout ARPE-19 cell line and found reduced mitochondrial superoxide levels, consistent with upregulated SOD2. The study demonstrates a potential role of POLDIP2 in regulating oxidative stress in AMD.
OncoMerge uses genetic data to analyze tumor activity and predict future changes. The software detects abnormal gene fusions and mutations affecting protein expression and gene copy numbers, improving the accuracy of cancer modeling predictions.
A major international study published in Nature Genetics has provided new insights into the genetics of preterm birth and pregnancy length. The research reveals a mutually antagonistic effect between the woman's and unborn child's genes, favoring earlier labor for the mother's survival and extending pregnancy for the child's weight gain.
A study using UK Biobank data found evidence of non-additive genetic dominance effects in human traits, revealing 183 gene loci linked to dominant and recessive patterns. These findings suggest a re-evaluation of classical genetics principles in humans, with potential implications for understanding heritability.
The study confirms that a significant number of people from Southwest Asia moved to the Swahili coast in medieval and early modern times, having children with local populations. Hallmarks of the Swahili civilization predated these arrivals, contradicting previous scholarly views.
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.