Articles tagged with Complex Diseases
A sixth-grader with a rare disorder, Emma, was diagnosed through TGen's genetic sequencing, providing validation to her family. The diagnosis led to awareness of the disorder and hope for treatments, thanks to TGen's Center for Rare Childhood Disorders.
Researchers at Rutgers University have linked Fragile X and SHANK3 deletion syndrome, both associated with autism and health problems, to walking patterns. The study used motion-sensored sneakers to detect gait problems 15-20 years before clinical diagnosis, offering a potential framework for early intervention.
A Mount Sinai study found that polygenic risk scores were no better at predicting worsening symptoms than written reports in schizophrenia patients. The results raise questions about the use of polygenic risk scores in real-world situations, suggesting a doctor's report may be an untapped source of predictive information.
A Rutgers-led study found that medically treated opioid overdoses in New Jersey Medicaid beneficiaries increased by over 300% from 2014-2019, driven primarily by heroin and synthetic opioids. The study also revealed high rates of co-occurring conditions such as depression, hepatitis C, and alcoholism among those who suffered overdose
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.
Researchers at Case Western Reserve University will study the genomics of Alzheimer's disease in people of African heritage across the US. The study aims to address the lack of diversity in existing genetic research and identify novel risk factors for the disease.
Researchers identified genes and cell types involved in rare inflammatory disease MIS-C in children following COVID-19 infection. The study found that specific immune cells are downregulated and associated with a sustained inflammatory response.
The NIH is investing $38 million to develop methods for using polygenic risk scores to predict disease in diverse communities. The new consortium will pool genomic information from existing and new datasets to improve the accuracy of polygenic risk scores across different ancestries.
A UCI-led study has identified key molecular mechanisms underlying complex traits and diseases, providing new insights into the role of genetic variation and environmental factors. The research reveals that specific molecular features associated with phenotypic variations contribute substantially to disease risk.
A recent study has found that South-Eastern Bantu-speaking groups are genetically diverse, with distinct languages and histories, and cannot be treated as a single entity in disease research. This discovery may lead to more accurate genetic analysis and better understanding of complex diseases such as diabetes and hypertension.
The Canadian Medical Association Journal published a new ALS guideline establishing a patient-focused approach to manage the disease. The guideline provides recommendations on communication, disease-modifying therapies, multidisciplinary care, and caregiver support.
A new study finds that patients with single gene disorders like Bardet-Biedl syndrome carry three times as many additional mutations, clustered around specific genes, which contribute to disease severity. This discovery challenges the traditional view of simple vs complex disorders and opens up new avenues for therapy development.
Researchers discovered that a person's genetic background can alter the risk of heart disease in individuals with familial hypercholesterolemia gene variants. A low polygenic score was found to lower the risk of breast cancer and colorectal cancer in those with high-risk single-gene variants, bringing it closer to the population average.
Researchers used dimensionality reduction analyses to identify fine-scale differences in the Japanese population, revealing greater population structure than previously thought. The study found eight sub-clusters within one of the populations, correlated with distinct islands in the Ryukyu region of Japan.
Researchers at the University of Helsinki discovered novel loci associated with hip dysplasia and osteoarthritis in German Shepherds, highlighting the hereditary nature and polygenic background of the disorder. The study sheds light on the genetic factors influencing complex diseases and may lead to better treatment options in the future.
Researchers have identified 111,582 gene fusions in eight species, including humans, mice, and cattle. The ChiTaRS database provides a list of over 800 druggable fusions useful for personalized therapy in complex diseases like cancers and Alzheimer's.
Researchers have created EphaGen software to provide a straight answer to whether a patient has a mutation. The new method uses a novel evaluation approach to assess the reliability of 'no mutation' results, enabling doctors to make informed decisions.
Researchers suggest that diseases may have played a crucial role in the extinction of Neanderthals. By employing mathematical models, they demonstrate how unique diseases harbored by Neanderthals and modern humans could have created an invisible disease barrier, ultimately allowing modern humans to supplant their cousins.
Researchers used machine learning to analyze whole genomes of 1,790 individuals with autism and their unaffected parents and siblings. Noncoding mutations were found to be comparable in number to protein-coding mutations causing gene disablement.
A broadly effective dengue vaccine is still a substantial challenge due to the disease's complexity. However, experts suggest that rethinking existing concepts and developing live attenuated vaccines could lead to more effective solutions.
A new computer-based model developed by Johns Hopkins researchers accurately predicts which patients with a rare heart condition will benefit from an implanted defibrillator. The model identifies patients most likely to benefit from the device while preventing unnecessary surgery, potentially saving thousands of lives annually.
A meta-analysis of multiple studies identifies hundreds of gene variants contributing to Tourette's syndrome, with more severe symptoms associated with increased risk variants. The study suggests a continuous spectrum of tic disorders and raises the possibility of predicting TS development in children with mild tics.
A new computational tool, Candidate Driver Analysis (CaDrA), has been developed to identify combinations of factors causing specific diseases. The tool recognizes the complexity of diseases and can discover novel features associated with invasive phenotypes.
Yongxin Zhao, assistant professor at Carnegie Mellon University, has received a National Institutes of Health (NIH) Director's New Innovator Award. He will use the grant to develop transformative nanoscale imaging techniques for analyzing complex diseases.
The SCAI-WIN program aims to increase female participation in interventional cardiology. Megha Prasad has been selected for a $100,000 fellowship to develop complex and high-risk intervention skills.
A new computational model accurately predicts the gradual progression of metabolic syndrome in mice, identifying two disease subtypes and their underlying metabolic differences. The model also correctly predicts comorbidities like fatty liver disease, offering new insights into preventing the disease.
A recent study published in Neuron reveals the significant contribution of common and rare genetic variations to the familial aggregation of migraine. The researchers found that common polygenic variation significantly contributes to the disease in families, with some subtypes showing a higher genetic load.
Internet gaming disorder has a complex background of personal, familial, and environmental factors that increase risk for certain individuals. The review notes the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) is a good starting point for diagnosing IGD.
Researchers found two compounds effective in prolonging lifespan and protecting against brain damage in animal models of mitochondrial disease. These findings suggest that N-acetylcysteine and vitamin E may be viable leads for clinical trials to treat mitochondrial disease, which has no proven effective treatments.
A new study published in Biological Psychiatry found that bipolar I and II disorders have different biological causes, with stronger family clustering for each subtype. The research also identified distinct gender differences and genetic correlations between the subtypes.
Advancements in mathematical tools are enhancing understanding of brain processes, including learning, emotion, dopamine signaling, and information processing. Studies using computational models are shedding light on the mechanisms underlying psychiatric diseases.
A new study published in Cell suggests that virtually any gene can influence disease, with peripheral genes having tiny but significant effects. The 'omnigenic model' proposes a more nuanced understanding of genetic variation and its role in disease.
Researchers found that heart failure patients with a history of stroke had greater risks of depression, hospitalization, and death compared to those without a history of stroke. Patients with both conditions died an average of five months earlier and were more likely to be rehospitalized or die.
A recent study has identified the molecular mechanism behind lithium's effectiveness in treating bipolar disorder, providing a clear path to developing new diagnostic tests and therapies. The research, led by Sanford Burnham Prebys Medical Discovery Institute, utilized human induced pluripotent stem cells to map lithium's response path...
Boston University School of Medicine's team science approach has led to numerous publications, new research grants, and training opportunities. The Evans Center for Interdisciplinary Biomedical Research has facilitated successful biomedical partnerships, resulting in 421 highly cited scientific publications.
Researchers have discovered biological evidence of atypical chronic fatigue syndrome, a complex and debilitating disease. The study found lower levels of certain immune molecules in individuals with atypical ME/CFS compared to those with classical symptoms.
A team of scientists has conducted the largest genome-wide association study on proteomics to date, revealing 539 associations between protein levels and genetic variants in complex diseases. The study found these associations overlap with risk genes for 42 complex conditions, such as cardiovascular disease and Alzheimer's disease.
A University of Florida study found that discrimination interacts with certain genetic variants to alter blood pressure and increase the risk of hypertension. Vicarious unfair treatment, or experiencing discrimination through close friends and family, also had a significant impact on stress levels.
Researchers found that CRPS patients' brains activate similarly to normal pain when observing movements, suggesting a connection between pain processing and motor control. The study may help develop diagnostics and therapeutic strategies for CRPS patients.
Researchers identified thousands of RNA splicing mutations involved in complex traits and diseases, enabling accurate functional interpretation of genome-wide association study data. The findings highlight the importance of RNA splicing in linking genetic variation to disease.
Chronic kidney disease affects over a third of cats over 10 years old, causing significant quality of life compromise. The ISFM Consensus Guidelines provide practical diagnostic and treatment options, including dietary management and antihypertensive medication use.
Researchers propose a novel framework to uncover hidden patterns of transmission and identify super spreaders in epidemics. Asymptomatic carriers can play a significant role in spreading diseases, and understanding their contribution is crucial for targeted interventions.
Researchers developed a new mathematical model to estimate mutation rates based on nearby DNA sequences, revealing genetic risk factors for complex human diseases. The model predicts up to 93% of variability in mutation occurrence and identifies new sequences prone to mutation beyond CpG sites.
A new study has pinpointed the symptoms of rare myotonic dystrophy type 2 (DM2) that are most important to patients. The research, published in Neurology, found that fatigue and pain were key concerns for DM2 patients.
Researchers at Columbia University and others present an alternative approach, Partition Retention, which displays strong power in prediction. This method identifies highly predictive variables that are not statistically significant, reducing prediction error rates from 30% to 8% for breast cancer gene analysis.
A Boston Medical Center model integrating nurse care managers into primary care increased physician waivers by 375% and patients' treatment access, particularly among African-American and Hispanic populations. The program has successfully treated over 8,000 Massachusetts patients with opioid dependence.
A five-year, $9.97M grant will establish a new Center for Precision Genomics at JAX, leveraging the lab's expertise in mammalian genetics and disease modeling to develop precision models of disease. The Center will accelerate translation to medical benefit through global collaborations and shared resources.
Higher field strength improves image signal-to-noise ratio and anatomical detail for better visualization of subcutaneous fat and osseous structures. The use of stronger 3-T field strengths may allow for improved assessment of complex prenatal diseases.
GWATCH provides a secure platform for researchers to access and share protected human data for disease gene discovery. The platform offers a dynamic visualization tool that enables researchers to identify disease-associated genetic markers without risking patient privacy.
Researchers identified 83 gene-deactivating variants that were more prevalent in Finns and found a link between these mutations and lower Lipoprotein(a) levels. The study suggests a
A study published in The Journal of Clinical Investigation reveals that the miR-130/301 microRNA family regulates diverse target genes, orchestrating a global proliferative response in diseased blood vessels. This discovery provides new therapeutic targets for treating pulmonary hypertension.
Researchers have identified two genes that increase the risk of developing eating disorders, including anorexia nervosa and bulimia. The genes, ESRRA and HDAC4, interact in a brain signaling pathway and produce the same biological effect, suggesting a new potential target for understanding and treating the complex condition.
Scientists from the University of Chicago have developed a unique genetic map that identifies associations between single-gene diseases and complex diseases. The study analyzed over 120 million patient records and found statistically significant correlations between 2,909 disease pairs, including previously unknown comorbidities such a...
Researchers at Whitehead Institute developed a new gene regulation system called CRISPR-on, which can activate multiple genes concurrently and precisely control their expression levels. The system has been shown to be effective in both mouse and human cells as well as in mouse embryos.
Researchers found that at least three fungi cause horseradish disease: Verticillium dahlia, V. longisporum, and Fusarium solani. However, new species F. commune has been linked to the condition, with 83% of infected roots developing root rot. Growers can use IPM techniques to manage the disease.
In a study of patients over 80, drug-eluting stents demonstrated lower rates of target vessel revascularization and myocardial infarction compared to bare-metal stents. The XIMA trial found that both types of stents offered good clinical results in this age group.
Researchers identified 37 previously unknown genetic risk loci associated with complex common diseases and elucidated their effect on human metabolism. The study provides a comprehensive evaluation of genetic variance in human metabolism, combining genome-wide association studies and metabolomics.
A study found nearly one in five patients with heart failure have low health literacy, which is associated with a higher all-cause risk of death. Patients with low health literacy were more likely to have coexisting illnesses and had a higher risk of mortality after adjusting for demographic variables.
Researchers have discovered haptoglobin as a reliable serum biomarker for predicting the onset of virus-induced type 1 diabetes in rats. The findings suggest that sustained elevations of serum haptoglobin are predictive of ensuing diabetes, with early detection potentially allowing for timely intervention.
Dr. Jurg Ott receives the prestigious William Allan Award for his groundbreaking research on linkage analysis and complex disease, advancing genome-wide association scans (GWAS) and related techniques. His contributions have had a significant impact on human genetics, including analyzing gene linkages for various genetic disorders.