A research team developed a way to study the effects of 125 mutations on 14 genes using zebrafish. They found that while mutations at one gene are responsible for the disorder, others can modify symptom severity and diversity.
Many kidney diseases are caused by single gene defects, providing opportunities for diagnosis and treatment. The discovery of causative genes enables personalized medicine and the development of targeted therapies.
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The European Union-funded Infrafrontier project has expanded its network of partners to include six new countries: Canada, Czech Republic, Austria, France, Italy, and the Czech Republic. This international collaboration aims to create an open-access research infrastructure for high-quality mouse models in biomedical research.
Researchers found five genome regions that increase the risk of developing an SLE-like autoimmune disorder in dogs. The study identified strong risk factors that may double the risk of human SLE, and could provide new avenues for studying the disease.
Researchers identified five loci associated with a canine systemic lupus erythematosus-related disease complex in Nova Scotia duck tolling retrievers. This study suggests that dogs can serve as an excellent model for identifying pathways involved in human complex diseases, particularly autoimmune disorders.
Computational biologists at Carnegie Mellon University have developed a statistical method to uncover genome variations underlying complex disease syndromes. The graph-guided fused lasso (GFlasso) method showed increased power in detecting gene variants associated with complex symptoms compared to other methods.
A new study in CMAJ found that an electronic tracking system improved diabetes care and clinical outcomes for patients, with 62% showing significant improvement compared to the control group. The study also showed greater patient satisfaction with their diabetes care.
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Researchers created a computational model to examine the role of certain proteins in familial Alzheimer's disease. The model found no link between amyloid beta plaques and tau tangles, but suggested that genetic mutations in proteins and GSK3 over-activation may contribute to the development of the disease.
A NJIT professor has developed a novel computational biology method to uncover critical genes responsible for disease development. The research, published in Science Signaling, found that complex diseases such as schizophrenia and cancer are caused by multiple dysfunctional genes.
The National Institute of Dental and Craniofacial Research (NIDCR) is positioning the dental research community for future success through interdisciplinarity, collaboration, and innovation. The NIDCR is investing in practice-based research networks to move dentistry towards evidence-based practices.
The National Institutes of Health has awarded the University of Chicago Medical Center nearly $23 million to conduct translational research. This project aims to develop personalized therapies and improve access to medical care for the diverse population of the South Side of Chicago, where health disparities are prevalent.
A new study published in PLoS Genetics used computer simulations to trace genetic changes over thousands of generations in a simulated population, testing the effectiveness of statistical genetic methods in identifying multiple genes causing complex diseases. The researchers found that known methods are limited and identified which met...
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A new study found a genetic link between the 'diabetes gene' (calpain-10) and polycystic ovary syndrome (PCOS), which affects up to five percent of females. The study suggests that specific variants of the CAPN10 gene may contribute to PCOS susceptibility, providing hope for diagnosis and treatment.
Research suggests that chronic fatigue syndrome (CFS) is influenced by multiple factors, including neuroticism, introversion, and genetics. Cognitive behavioral therapy (CBT) and exercise therapy have been found to be effective in managing symptoms.
Researchers have identified a potential genetic link to Tourette syndrome, discovering a mutation in the SLITRK1 gene that is associated with the growth and interconnection of neurons. The study suggests that multiple genes, including SLITRK1, contribute to the development of TS.
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A UCI study found that combinatorial drug therapies halted brain-cell damage in fruit flies with mutated Huntingtin protein, showing potential for treating neurodegenerative diseases. The treatment combines compounds targeting different cellular processes with no toxic side effects.
A study found that heavy alcohol consumption is associated with a slightly increased risk of colorectal cancer. The American College of Physicians task force released eight recommendations to redefine the domain of general internal medicine, suggesting a balance between breadth and depth in practice, as well as team-based care.
Researchers developed a new method to speed up the search for genes involved in complex medical conditions. By substituting one chromosome at a time, they can detect gene locations with greater accuracy and efficiency. This breakthrough has the potential to accelerate the discovery of disease-causing genes and lead to new treatments.
Researchers developed a new method to alter gene expression levels without disrupting essential control elements. This technique uses the 3' untranslated region (UTR) to influence protein production, allowing for predictable and controlled changes in gene expression.
Activation of antigen-presenting cells (APCs) by microbial products leads to the breakdown of self-tolerance in the immune system. This breakdown induces autoimmune disease, a condition where the immune system mistakenly attacks healthy tissues.
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The Chamorro people's consumption of cycad-fed flying foxes may have led to high incidence of ALS-PDC, a neurodegenerative disease. Studies show that eating wild animals with unknown health risks can be particularly hazardous.
Scientists at Johns Hopkins will pursue novel biological therapies to prevent abnormal heart rhythms and sudden death in patients recovering from heart attacks. They will also use modern imaging techniques to define the features of the heart posing the greatest risk for life-threatening arrhythmias.
Scientists have identified a four-stage process to determine gene identity in complex diseases, using methods such as linkage analysis and sequence analysis. This will help establish definitive proof of gene involvement, benefiting research on conditions like Alzheimer's and Type 1 Diabetes.
A genome-wide scanning study has identified eight genes, including RET and EDNRB, as contributing to Hirschsprung disease, a complex disorder affecting bowel function. The research used gene chips and computer software to analyze thousands of genetic variations, providing new insights into the disease's causes.
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Researchers used genome-wide scanning to uncover genetic causes of Hirschsprung disease, a complex disorder resulting from subtle gene mutations. The study identified two key genes, RET and EDNRB, which must co-exist to cause the disease, providing new insights into its underlying mechanisms.
A new study documents the effectiveness of recombinant enzyme treatments for mucopolysaccharidosis 1, a rare disorder that causes progressive developmental delays and death. The genetically engineered enzyme shows significant improvement in patients' ability to get around and their overall health.
A team of scientists has discovered the gene responsible for Papillon-Lefevre syndrome, a rare condition characterized by thick, cracked skin and premature tooth loss. The study identified mutations in the cathepsin C gene, which may help understand the development of periodontal disease.
Researchers have identified a genetic risk factor for late-onset Alzheimer's disease, combining the E4 variant of apolipoprotein E with the butyrylcholinesterase K variant. This combination significantly increases the risk of developing Alzheimer's disease in people over 65 years old.
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The new guidelines rank treatment options using data from 69 experts, recommending cognitive-behavioral therapy (CBT) as the primary first-line treatment. The guidelines also suggest starting medication before adding CBT for severe patients, and recommend a trial of clomipramine after failed SSRI trials.