Articles tagged with Mutation
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Researchers at Yale University have identified a rare genetic mutation that significantly extends the survival of lung cancer patients with brain metastases. Patients with this mutation live an average of four years with controlled disease in their brains nearly a year after initial treatment.
Scientists have created a nematode model using Caenorhabditis elegans to study cardiac arrhythmias. The model uses the nematode's feeding apparatus, which resembles the mammalian heart's muscle cells, to test substances for treating genetic arrhythmias.
Researchers discovered that genetic background affects mutations in lymphoma tumors across different dog breeds. The study identifies breed-specific genes and molecular subtypes, offering a unique model for understanding how genetics influence cancer development.
The Matchmaker Exchange platform harnesses collective data from across rare disease repositories to uncover similar symptoms and genetic profiles. By protecting patient data privacy while connecting databases through APIs, researchers can identify the genetic causes of rare diseases more efficiently.
Albert La Spada, a UC San Diego professor, has received a $900,000 Harrington Scholar Award to develop a therapy for Spinocerebellar ataxia type 7 (SCA7), a rare neurological disorder. His research may also have implications for Parkinson's and ALS.
The study found that Inuit have special mutations in genes involved in fat metabolism, which lower bad LDL cholesterol and fasting insulin levels. These mutations also reduce height by 2 centimeters in the Inuit, a finding associated with shorter heights in Europeans.
Scientists developed an interactive analysis program called Gingko to study genetic anomalies and provide a simple way to visualize patterns in copy number mutations. This could help clinicians better target medications based on individual cell mutation profiles.
A study found that two newer genetic testing technologies can identify genetic mutations potentially linked to autism in children with certain physical anomalies. The findings suggest that medical evaluation of ASD children may help identify populations more likely to achieve a molecular diagnosis.
Researchers have discovered how a common gene mutation causes long strands of RNA to block pathways that move proteins into a cell's nucleus, leading to molecular traffic jams. Molecular therapy has been shown to reopen blocked pathways in human and fly cells, providing hope for treatments for ALS and dementia.
A Harvard University collaboration has developed a 3D model of solid tumors that reflects both their three-dimensional shape and genetic evolution. The model explains why cancer cells share an unusually high number of genetic mutations and how drug resistance evolves, shedding light on tumor growth and evolution.
The study reveals that C9ORF72 mutations block the transfer of information between the nucleus and cytoplasm, leading to neuron deterioration. The research provides insight into developing targeted therapies for ALS and FTD.
Research found that persistent genetic mutations in at least 5% of bone marrow cells are associated with increased risk of relapse and reduced overall survival for leukemia patients. The study provides a foundation for genomic methods to risk stratify patients with acute myeloid leukemia.
Researchers at the University of Utah are exploring the link between congenital heart defects and neurological disorders in children, discovering genetic mutations that affect both heart and brain function. The goal is to develop precision medicine for CHD patients and tailor treatment based on genomic sequence.
Researchers at NIH's NINDS have discovered a critical transport defect in motor neurons with SOD1 mutations, which causes cells to accumulate damaged materials. Increasing snapin levels during early stages of the disease can correct the problem and improve motor neuron survival.
Recent findings uncover 16th century botanical records documenting heterostyly, a phenomenon later studied by Charles Darwin. The research traces the history of Darwin's work back to early floral prints and descriptions of plants for medicinal purposes.
Researchers at UNC School of Medicine discovered that a single genetic mutation disables a molecular switch in the UBE3A gene, leading to hyperactivation and abnormal brain development. This finding has implications for diagnosing and treating autism, particularly for individuals with Dup15q syndrome.
WSU researchers discover that environmental factors can prompt genetic mutations through epigenetics, changing our understanding of disease and evolution. The study found increased genetic mutations in offspring exposed to the fungicide vinclozolin, suggesting a more significant role for environment in driving intergenerational changes.
Researchers at Northeastern University discovered that a specific mutation in the hipA gene leads to persistent E. coli cells in patients with relapsing urinary tract infections, paving the way for customized treatment regimens.
Researchers developed a 'Cytosponge' to collect cells from the gullet, reducing variation between biopsies. The study found patterns of mutations that provide a 'fingerprint' of cancer causes, helping doctors catch the disease earlier.
A Mayo Clinic study has identified abnormalities in the levels and processing of ribonucleic acids (RNA) in patients with sporadic and genetic forms of ALS. The findings, published in Nature Neuroscience, suggest that different factors may contribute to the development of ALS and highlight the need for tailored therapies.
Researchers detected four known genetic mutations causing thoracic aortic aneurysms and identified 22 previously unknown variants contributing to the condition. This technology enabled personalized care, including preventive surgery and more frequent imaging tests for patients with high-risk mutations.
A new study has uncovered a key factor in the variability of genetic disease severity, enabling prediction and personalized treatment approaches. By analyzing genetic background, researchers can now estimate disease severity, providing hope for improved management and therapy development.
A single genetic mutation in the tga1 gene led to the formation of naked kernels, allowing for easier consumption. This discovery provides insights into the rapid evolution of corn traits through minor genetic alterations.
Researchers at Penn have identified a specific gene, TEX11, responsible for some cases of male infertility. The study found that mutations in this gene are present in approximately 1% of men with azoospermia, a condition where males produce no sperm.
Researchers discovered a buffering mechanism that protects animals from severe genetic mutations, which may hold the key to understanding human diseases. By identifying these mechanisms, scientists can develop new treatments and improve clinical practice.
A decade-long investigation by Wayne State University and Children's Hospital of Michigan researchers identified a key gene mutation that can trigger acute lymphoblastic leukemia. The mutation affects ETV6, a gene that regulates growth rates in bone marrow, leading to an increased risk of blood cancer.
Australian researchers discovered that a single genetic change in Smchd1 affects its function in the cell, leading to debilitating muscle wasting in FSHD. This fundamental understanding could help develop future treatments for the currently untreatable disease.
Researchers have discovered a gene mutation associated with an aggressive form of brain cancer called anaplastic oligodendroglioma. The study found that errors in the TCF12 gene render the protein less able to bind to DNA, leading to reduced activity of other key genes, including CHD1.
Researchers at Mayo Clinic have developed a new molecular classification system for gliomas, which could lead to more accurate diagnoses and personalized treatments. The system categorizes tumors based on three genetic alterations, allowing clinicians to predict patient outcomes and tailor treatment plans accordingly.
Researchers found that genetic mutations accepted by evolution are contingent upon previous mutations, making predictions of long-term evolution challenging. The study also revealed that mutations become entrenched and increasingly difficult to revert over time, supporting the idea that evolution is unpredictable and irreversible.
At least 6.5% of de novo genetic mutations now known to arise during post-zygotic development, affecting clinical outcomes and recurrence risk. Better information on mutation origin will enable more informed reproductive choices.
A new genetic mutation in the TGFB3 gene has been discovered, linking it to serious aortic disorders. This finding allows for improved diagnostic screening, enabling early identification of patients at risk and potentially preventing aortic aneurysm formation through preventive treatment.
Researchers sequenced genomes of nearly 1,000 volunteers and identified genomic variants predicting rare diseases, with over 3% of the US population potentially affected. This study demonstrates the potential for predictive medicine using DNA sequencing, with implications for personalized healthcare.
Researchers have successfully created mice that mimic the symptoms of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), two devastating neurodegenerative disorders. The mice exhibit key hallmarks of the diseases, including toxic RNA clusters and TDP-43 protein inclusions.
Researchers discovered a genetic fault preventing SEMA3E from working correctly in two brothers with Kallman Syndrome, leading to the loss of nerve cells regulating sexual reproduction. The study demonstrates a powerful method for identifying genetic causes without relying on large statistical samples.
Researchers introduce single-letter DNA change into human red blood cells, increasing oxygen-carrying haemoglobin production and alleviating symptoms of sickle cell anaemia. The approach is effective, safe, and non-inherited, offering a promising alternative to conventional gene therapy.
A recent study from the University of Texas MD Anderson Cancer Center suggests that profiling normal DNA provides an opportunity to identify inherited mutations critical for patients and their families. Researchers sequenced tumor and normal DNA from patients with advanced cancer, identifying germline mutations in nearly all cases.
A recent study published in the New England Journal of Medicine found that X-linked gene mutations can contribute to azoospermia and male infertility. Researchers identified a deletion in the TEX11 gene on the X chromosome as a potential cause, which can lead to meiotic arrest and prevent the development of viable sperm.
Researchers have developed a strategy for creating customized cancer vaccines based on the unique genetic blueprint of each tumor. By identifying relevant mutations and using synthetic RNA vaccines, they have shown promising results in animal models, paving the way for targeted treatment of various types of cancer.
Researchers found that genetic mutations passed from mothers to sons are more likely to increase autism risk. The study provides a comprehensive genetic picture of autism and may lead to the discovery of biomarkers for diagnosis and targeted treatments.
Researchers at Icahn School of Medicine at Mount Sinai have developed a gene therapy approach that targets and corrects genetic mutations linked to heart failure. The treatment uses molecular scissors to cut out diseased genes and replace them with normal ones, restoring healthy cardiac cell function.
A new genetic mutation in the GLP1R gene has been found to decrease the risk of developing Type 2 diabetes by 14 percent. The discovery could lead to personalized treatment and prevention strategies for millions of diabetics worldwide.
Researchers at Yale University successfully corrected the F508del mutation in the cystic fibrosis gene, a lethal genetic disorder. The novel approach uses synthetic molecules to edit the genetic defect, with minimal off-target effects.
Researchers at UC Davis have identified the biochemical underpinnings of Canavan disease, a type of leukodystrophy that causes progressive neurological deterioration. By blocking the production of NAA, they aim to find a promising direction for treatment and potentially reverse the process in children with the disease.
Researchers found hundreds of possible new genes that could transform benign skin growths into deadly melanomas when combined with the Braf V600E mutation. The discovery provides new targets for slowing or stopping cancer growth.
A genetic mutation in cattle grazing at high altitude leads to a life-threatening condition called brisket disease, characterized by high blood pressure in the lungs. The study sheds light on human lung disease, particularly non-familial pulmonary hypertension in patients with emphysema and pulmonary fibrosis.
A new study published in the Genetics journal estimated that humans carry an average of one to two recessive disease mutations, which can cause severe genetic disorders or prenatal death. The study used a unique community's detailed family histories and genealogical records to estimate the number of mutations per person.
Researchers have identified a genetic mutation in salt-inducible kinase 1 (SIK1) that regulates myocyte-specific enhancer factor 2C (MEF2C), contributing to severe seizures. The finding may lead to better treatment options for individuals with developmental epilepsy.
A new study found that exercise alone can lower the risk of heart defects in babies born to older mouse mothers. The research suggests that genetic mutations are tied to age, not egg quality, and that healthy metabolism and exercise may play a crucial role in preventing congenital heart disease.
Acute myeloid leukemia (AML) cells exhibit high genetic diversity, driven by convergent evolution and mutation rates, leading to increased treatment resistance. Researchers are exploring a new paradigm that leverages cancer's evolveability to develop more effective treatments.
Scientists have discovered a new virus infecting archaea beneath the ocean floor, which selectively targets one of its genes for mutation. The study also reveals that these microorganisms use a novel mechanism to accelerate genetic adaptation, targeting at least four distinct genes, and this process may be key to their survival.
Researchers at CNIO have discovered a new gene, MDH2, linked to rare neuroendocrine tumors with high hereditary risk. The finding confirms the relationship between metabolism and tumour development, providing a boost to genetic diagnosis and potential metastasis prevention.
A University of Colorado Cancer Center study found a heritable genetic cause of acute lymphoblastic leukemia (ALL), similar to the BRCA mutation that affects breast and ovarian cancer risk. The ETV6 gene mutation is present at birth and increases the development of ALL, with the potential for future strategies to prevent the disease.
Researchers discovered that genetic mutations affect the development of the diaphragm by altering the expression of the Gata4 gene, leading to a defective diaphragm and the herniation of organs. The study's findings offer new hope for the prevention and treatment of congenital diaphragmatic hernia.
A team of UC Santa Barbara scientists discovered a new virus that selectively targets one gene for mutation, allowing it to thrive in extreme environments. They also found that some archaea do the same, targeting multiple genes and accelerating genetic variation through guided mutation.
Researchers at KAIST identify brain somatic mutations in the MTOR gene as the cause of intractable epilepsy. These mutations are specific to the brain and can lead to permanent disabilities and death. A targeted therapy using rapamycin may offer a solution, suppressing mTOR kinase activation to lessen epileptic seizures.
Researchers have discovered that the three-dimensional structures of mRNAs determine their stability and efficiency inside cells. This knowledge could help explain minor mutations causing neurodegenerative diseases.
A novel study published in Nature Genetics shows that mammals use more of the DNA inherited from their dads to develop and express genes. This discovery has significant implications for understanding complex diseases like type-2 diabetes, heart disease, and schizophrenia.
A computational tool, dSysMap, has been developed to interpret the effect of genetic mutations on the development of complex diseases. The tool positions over 23,000 documented genetic mutations on a map of known interactions between human proteins.
Fruit flies exhibit homogenous gene expression pattern at optimal temperature of 18°C, unaffected by genetic variation. Canalization mechanism acts as buffer against environmental or genetic perturbations, stabilizing organismal growth.