The Universal Genomics Instructor Handbook and Toolkit provides a comprehensive 'how-to' guide for implementing genomics education in various medical specialties. The toolkit contains four exercises and resources for clinicians to gain introductory training in genomic medicine.
Optic nerve hypoplasia is a leading cause of childhood blindness in developed nations, and researchers have discovered the biological mechanism behind it. The condition affects brain growth during development, particularly with the CASK gene, which helps provide architectural support for neuronal communication.
The Association for Molecular Pathology publishes consensus recommendations for validating next-generation sequencing bioinformatics pipelines. The guidelines emphasize the critical role of trained molecular laboratory professionals and provide practical advice for laboratories.
A comprehensive study of heart-spleen and heart-kidney networks reveals the interconnectedness of organ damage after a heart attack. Researchers found histological and cellular changes in the spleen and kidney, as well as bimodal inflammatory responses and irreversible dysregulation in the cardiosplenic and cardiorenal networks.
Researchers found a connection between abnormal glucose breakdown in the brain and the severity of Alzheimer's symptoms, with lower glycolysis rates and higher brain glucose levels correlated to more severe pathology. The study suggests that targeting glycolysis defects could lead to new treatments for Alzheimer's disease.
A collaborative study has found that a combination of three monoclonal antibodies prevents Zika virus infection in primates. The treatment completely blocked the virus from taking hold in the animals, indicating a promising intervention to protect uninfected pregnant women and their fetuses.
A team of scientists has identified a protein called TOX that drives the initiation and growth of an aggressive form of leukemia. TOX is expressed in 95 percent of human T-ALL cases and required for cancer's growth and persistence, offering new targeted treatment approaches.
The Association for Molecular Pathology (AMP) has awarded prestigious honors to Drs. Andrew P. Feinberg, Gregory J. Tsongalis, and Alexis B. Carter for their outstanding contributions to the field of molecular diagnostics. AMP President Federico A. Monzon praised the award recipients for their decades of service to the society.
A comprehensive genomic analysis of Wilms tumor identified genetic mutations involving a large number of genes, converging into two major pathways that lead to cancer. The study offers new opportunities for treatment by targeting these processes instead of individual genes.
The Human Pathology Atlas analyzes human genes in all major cancers, revealing patterns that influence patient survival. The atlas provides a powerful tool for personalized medicine, with potential applications in lung and colorectal cancer.
Aged chimpanzee brains exhibit pathology similar to human Alzheimer's disease, including Aβ plaques and tau lesions. The study provides the most extensive evidence of AD brain pathology in a primate species, shedding light on the evolution and potential targets for therapeutic interventions.
Researchers from Kent State University have identified pathologic hallmarks of Alzheimer's disease in the brains of aged chimpanzees, similar to human Alzheimer's disease brain pathology. The study found amyloid beta plaques and blood vessels in all 20 aged chimpanzee brains, with increasing sizes correlating to age.
A high proportion of former NFL players had neuropathological evidence of CTE, with 110 out of 111 players diagnosed. The study also found a link between CTE and previous football participation, with severe pathology more common among professional players.
Researchers develop a technique called expansion microscopy to physically expand tissues, enabling pathologists to diagnose diseases like early breast cancer with high accuracy and reliability. The method has been shown to improve the resolution of conventional microscopes and can be applied to any type of clinical sample.
Research reveals dose-dependent gadolinium deposits in normal brain tissue of patients who underwent MRI with contrast agents, suggesting a widespread issue. The study's findings contradict previous assumptions about the blood-brain barrier's impermeability to gadolinium.
The IASLC published a comprehensive summary of the year's key developments in thoracic oncology, covering prevention, early detection, pathology, staging, surgery, adjuvant therapy, radiotherapy, and immunotherapy. The publication highlights significant progress in small cell lung cancer and malignant mesothelioma.
Researchers found that pathologists outside of academic centers were more likely to misdiagnose appendix tumors as invasive cancer. A significant number of patients had their diagnoses changed after a second evaluation, emphasizing the importance of expertise in appendix cancer diagnosis.
Dr. Xiao-Ming Yin's pioneering research has significantly impacted our understanding of cellular degradation pathways, leading to novel cancer treatment approaches and potential therapeutic strategies for non-alcoholic fatty liver disease.
Dr. Katerina A. Politi has made significant contributions to the understanding and treatment of EGFR mutant lung cancer. Her research has led to a paradigm-shift in the diagnosis and treatment of lung cancer, including the early adoption of molecular profiling.
Dr. Michael A Gimbrone, Jr has made significant contributions to the field of vascular biology through his research on endothelial cells and the development of methods for culturing these cells. His work has led to a paradigm shift in our understanding of vascular diseases and has paved the way for countless studies and discoveries.
A demo version of a new Pathology Atlas will be presented on April 2-5 at AACR17, offering information on human gene expression levels and their relationship with cancer patients' clinical outcomes. The atlas provides analysis on nearly 8,000 cancer patients across various major cancers.
A new gene variant has been identified in the PTPRD gene that is associated with the accumulation of neurofibrillary tangles (NFTs) in the brain. The study found that this variant affects more than one mechanism of tangle accumulation and may be a key target for developing therapies targeting Tau pathology.
Researchers at Brigham and Women's Hospital have discovered a new genetic variant linked to Tau pathology in Alzheimer's disease. The study, published in Molecular Psychiatry, highlights the potential for targeting the protein tyrosine phosphatase receptor-type delta (PTPRD) gene as a therapeutic strategy.
The Association for Molecular Pathology published consensus recommendations to validate next-generation sequencing (NGS)-based oncology panels. The guidelines address NGS test development, optimization and familiarization, and best practices for establishing test performance characteristics.
A study published in PLOS Medicine found that six unsaturated fatty acids are associated with Alzheimer's disease cognitive symptoms and neuropathology. The researchers analyzed brain tissue samples from older individuals with healthy brains, those with tau or amyloid proteins but no memory problems, and those with Alzheimer's disease.
A new study found that a diabetes drug called amylin improved learning and memory function in AD patients and reduced AD pathology in their brains. The findings suggest a potential blood test for AD using pramlintide.
Scientists at the University of Alberta have developed synthetic DNA motors that can be used for improved disease detection and drug delivery. The nanomachines demonstrate the potential for early diagnosis and targeted release of drugs within patients, resulting in fewer side effects.
Researchers at the University of Pittsburgh School of Medicine have identified a novel genetic mechanism and marker that may predict response to a class of drugs in many cancer types. Elevated levels of IGF2BP3 protein were found in both thyroid and other common cancers, suggesting its potential as a biomarker for treatment response.
A new approach to surgical pathology in brain tumor patients uses stimulated Raman histology, improving speed and diagnostic efficiency. The method, tested in an operating room, produces accurate results faster than conventional methods.
A new report in The American Journal of Pathology reveals that potent cytotoxins produced by group A streptococcus (GAS) contribute to the severity of 'flesh-eating disease'. Production of both NADase and streptolysin O is necessary for full virulence, and infections can be controlled better with toxin-deficient bacteria.
The Association for Molecular Pathology (AMP) has published a joint guideline to standardize the interpretation and reporting of sequence variants in cancer. The guidelines aim to improve patient care by establishing standardized classification, annotation, interpretation, and reporting conventions for somatic sequence variants.
Research at McGill University has identified a link between decreased X chromosome gene PPP2R3B expression and tumor progression in melanoma. The findings suggest that genetic specificity of the X chromosome plays a role in gender differences observed in melanoma prognosis.
A new study published in The American Journal of Pathology found that over 90% of bladder cancers lack the enzyme argininosuccinate synthetase 1, making them susceptible to arginine-degrading therapy. This approach has shown promising results in treating bladder cancer with low ASS1 expression.
Researchers developed an improved animal model of Alzheimer's disease using tau protein isolated from patient brains. The model replicates the formation and spread of brain fibrils associated with AD, offering new opportunities for investigating therapies to stop or slow their progression.
Researchers identify direct link between brain inflammation and CTE, with longer football careers predicting increased inflammation and disease progression. The study suggests that treating inflammation could prevent or lessen CTE development, offering potential biomarkers for early identification.
The Association for Molecular Pathology released a new report highlighting the potential of MALDI-TOF-MS in identifying invasive infectious diseases. The technology has been shown to accurately identify filamentous fungi and mycobacteria, but more testing is needed before its use can be recommended.
Researchers at Kansas State University have designed a soybean variety that protects against nematode parasites, which are the No. 1 soybean disease in the nation. The new variety could potentially save the soybean industry millions of dollars per year by controlling nematodes and their reproduction cycles.
Researchers at Temple University Health System will investigate the combined impact of tobacco smoke and opiates on HIV-induced tissue damage in brain, lungs, and other organs. The study aims to better understand the pathology of HIV infection and develop new treatments for affected individuals.
The Association for Molecular Pathology has developed a new framework for defining the clinical utility of molecular diagnostics, emphasizing the importance of context in interpreting test results. This approach aims to improve patient care by providing clinically useful and appropriate testing based on realistic evidence levels.
A University of Colorado Cancer Center study found that only 4.6% of cases had discrepancies between initial and final evaluations, with most being due to process errors or interpretation errors. The study aimed to reduce discrepancy rates by identifying trends and implementing changes.
A study led by Johns Hopkins pathologists found routine hormone receptor testing for noninvasive breast cancer through needle biopsies is unnecessary and wasteful, costing millions annually. This practice could save up to $35 million yearly.
The College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Pathology announced a revised evidence-based guideline for molecular testing in lung cancer patients. The guidelines aim to improve patient selection and targeted therapies.
Researchers at Allina Health have developed an algorithm to simplify the complex pathology classification process for pituitary adenomas. The new system helps pathologists make a more accurate diagnosis with fewer tests, saving time and reducing costs.
Researchers found that blocking acetylcholine in genetically modified mice caused Alzheimer's-like pathology, highlighting the importance of this neurotransmitter for brain health. The study suggests that targeting one of the affected messenger RNA pathways may lead to a reversal of dementia progression.
Researchers found long-term damage to the blood-spinal cord barrier after ischemic stroke, leading to a 'toxic environment' in the spinal cord. This damage can cause further disability and exacerbate disease pathology, including motor neuron deterioration and motor dysfunction.
A rare form of pulmonary hypertension has been discovered in dogs, with similar symptoms and potentially useful as a model for human PVOD. The study, published in Veterinary Pathology, could lead to new insights into the disease and its treatment options.
Researchers at Griffith University identified significant impairments in cellular function of CFS patients. They found dysfunctional signalling may contribute to impaired cell activity, aligning with symptoms. The study provides further evidence for the pathology of this disabling illness.
A study found that nearly half of routine tests for monoclonal gammopathy are unnecessary and costly. An algorithm-driven approach can improve efficiency and reduce healthcare costs by putting more decision-making power in the hands of pathologists.
Researchers found that about 5% of patients experienced unexpected relapses of cancer after laparoscopic radical cystectomy (LRC) despite favorable pathology. The use of pneumoperitoneum during LRC may have played a role in these recurrences, according to the study published in The Journal of Urology.
Researchers from Regenstrief Institute and Indiana University have found that machine learning algorithms can detect cancer cases from free-text pathology reports with similar accuracy to human reviewers. The computerized approach is faster and less resource-intensive, facilitating timely health department action.
Scientists at the University of Wisconsin-Madison have created a mouse model to study Zika virus, allowing researchers to test vaccines and antivirals while understanding the virus's effects on human brains. The model, lacking key immune system defenses, shows the virus causes severe pathology in brain tissue.
A new publication by the Association for Molecular Pathology provides cost and value analysis of gene panels, including non-small cell lung cancer and hearing loss. The study demonstrates economic value in optimizing care for patients with hereditary diseases and cancer through targeted gene panels.
A study in the American Journal of Pathology finds that serotonin deficiency is associated with worse rheumatoid arthritis (RA) symptoms and pathology in mice. Serotonin or its agonists can reduce RA effects, suggesting a new therapeutic target for this debilitating disease.
Researchers at Massachusetts General Hospital found that inducing the hypoxia response, the body's reaction to low oxygen levels, may relieve symptoms of mitochondrial diseases. Activation of this response alleviated mitochondrial pathology and extended survival in animal models.
The locus coeruleus is a critical brain region that releases norepinephrine, regulating heart rate, attention, memory, and cognition. It is vulnerable to toxins and infection, making it the first place affected by late-onset Alzheimer's disease.
The Association for Molecular Pathology (AMP) has updated its pathology residency curriculum recommendations, focusing on 10 major molecular pathology topics. The new report aims to equip pathologists with the latest scientific breakthroughs and technological innovations in molecular pathology.
Researchers found elevated concentrations of synaptic soluble amyloid-β (Aβ) oligomers in early-stage AD patients compared to controls. The study suggests that therapies targeting synaptic Aβ oligomers may be more effective than anti-amyloid therapies in preventing or delaying AD-related dementia.
Researchers at Mayo Clinic found significant evidence of chronic traumatic encephalopathy (CTE) in males who participated in amateur contact sports, including football, wrestling, and rugby. The study suggests that these sports may increase the risk of developing CTE, a progressive degenerative disease caused by repetitive brain trauma.
A study by UPMC and KingMed Diagnostics researchers found that international telepathology consultations significantly improved patient care in China, altering treatment plans for over half of cases. The consultation service expanded access to pathology expertise, facilitating the diagnosis of rare malignancies.
Researchers at Case Western Reserve University are creating a 'pathology image informatics platform' to analyze and share digital pathology imaging data, focusing on prostate and breast cancers. The project aims to unlock the potential of images in cancer prediction.