Research on the genetic drivers of cancer. Covers childhood-cancer drivers, AI mutation detection, faster lymphoma diagnosis, and precision immunotherapy trials.
Researchers have identified two genes linked to IgA nephropathy, a common cause of kidney failure. The study found that variations in these genes, C1GALT1 and C1GALT1C1, are significantly more common in patients with high levels of the Gd-IgA1 marker.
Researchers in Florida have identified a possible association between cancer incidence rates and Superfund sites. The study found that counties with Superfund sites had a 6% higher rate of adult cancer cases, suggesting a link between toxic environmental waste and adverse health outcomes.
Researchers have developed a new blood test that can detect cancer and identify its location in the body, offering an alternative to invasive surgical procedures. The test works by analyzing DNA released by dying tumor cells and identifying specific methylation patterns unique to each tissue type.
Researchers developed a new framework to classify human prostate cancer using mathematical approach Latent Process Decomposition (LPD), identifying a novel 'poor prognosis' category called DESNT. This distinction helps target therapy to men with significant cancers, avoiding unnecessary treatments and side effects.
A personalized strategy involving frequent CA125 blood tests and ultrasound examinations could improve the chance of detecting tumors at early stages. This approach reduced the risk of diagnosis with advanced cancer in high-risk women who chose to delay recommended preventive surgery.
Researchers have developed a new computational software to determine the presence of epigenetic add-ons linked to cancer and other health conditions. The software uses nanopore sequencing technology to detect cytosine methylation in DNA, which can affect gene expression and play a role in diseases such as cancer.
Researchers have developed a new imaging technology that sees DNA naturally fluoresce, allowing for the study of individual biomolecules and global patterns of gene expression. This breakthrough could yield insights into cancer and other diseases.
Researchers identified T-bet as the key control point regulating genetic risk in specific diseases like IBD and Celiac disease. This discovery provides a specific target for treatment development, potentially leading to more effective therapies for life-changing auto-immune conditions.
Researchers developed a new tool to analyze genetic changes in ovarian cancer, revealing pathways disrupted by the loss and gain of genes. The study found that targeting autophagy genes showed promise in treating chemotherapy-resistant disease.
Researchers validated 70 genes associated with congenital heart disease in fruit flies, including those modifying histone structure. This approach may enable precise gene-editing techniques for tailored treatments.
A study found that many high-risk breast cancer patients are not recommended for genetic testing, despite being interested in it. The lack of testing puts doctors at risk of missing opportunities to prevent cancers in mutation carriers and their family members.
A new study published in Nature reveals 83 new genetic variants strongly influencing human height, shedding light on the poorly understood area of human biology. The research found rare genetic changes with large effects on height, up to 2 cm, and may lead to precision medicine approaches for growth disorders.
A recent study among over 1000 colorectal cancer patients found that about 10% carry mutations associated with increased cancer susceptibility. The research recommends genetic testing for all patients to identify these risks and prevent future cases. This expanded approach could also benefit at-risk family members by providing earlier ...
Scientists have identified 107 new gene regions linked to high blood pressure, enabling doctors to target treatments and advise on lifestyle changes. The findings suggest a personalized medicine approach could reduce the risk of heart disease and stroke.
Researchers developed a universal CAR T cell therapy that overcomes the obstacle of generating personalized cancer-killing cells from young children. The treatment successfully eradicated leukemia from two infant patients, who remained disease-free for 10 and 16 months.
A University of Michigan study found that less than 2% of customers regret receiving genetic health data and only about 1% are harmed by the results. The majority of participants were interested in ancestry information, with 74% wanting to know their ancestral origins.
The Damon Runyon-Rachleff Innovation Awards support novel approaches to fighting cancer with $2.1 million grants to nine innovative early-career scientists. Their projects aim to significantly impact cancer prevention, diagnosis, and treatment.
Researchers at Northwestern University have discovered a genetic driver of mixed lineage leukemia, a rare and deadly form of childhood leukemia. They identified a targeted molecular therapy that halts the proliferation of leukemic cells by stabilizing the wild-type MLL protein, which drives cancer.
Researchers from the National Foundation for Cancer Research (NFCR) have discovered a new pharmacological agent to treat glioblastoma multiforme, a deadly brain cancer. The treatment has shown profound survival benefits in pre-clinical models when combined with radiation.
Researchers found a genetic defect in CD70 protein, leading to poor immune control of EBV and increased risk of Hodgkin's lymphoma. The study provides insight into the normal role of CD70 and offers potential strategies for combatting autoimmune disease.
Scientists found that defects in ARID1A gene caused sensitivity to ATR inhibitors, potentially personalizing treatment for cancer patients. The research could lead to identifying patients who will benefit most from the new drugs.
A team of researchers used mathematical models to study the emergence of treatment-resistant populations in bacteria and cancer cells. They found that biological redundancy can lead to bet-hedging, a mechanism that allows cells to survive even when faced with catastrophic environmental changes. The study suggests that traditional strat...
A new study found that nearly half of early-stage breast cancer patients considered having a double mastectomy, despite knowing it offers little benefit. Patients were unaware of the surgery's risks and benefits, with many choosing it for peace of mind.
A Dartmouth study reveals that children genetically predisposed to obesity have a stronger brain response to fast food commercials. The findings suggest that limiting exposure to food advertisements could be an effective way to combat child obesity.
A genetic difference in the FADS1 gene affects levels of LDL- and HDL-cholesterol, as well as the risk for allergies, inflammatory diseases, and certain types of cancer. This imbalance is thought to have evolved over time due to changes in human diet.
A study found that women aged 65 years or older with metastatic breast cancer are more likely to have cancer-linked genetic alterations and receive targeted therapy than younger patients. Researchers emphasized the need to better understand and characterize genetic abnormalities in this age group to improve treatment options.
Researchers at Mayo Clinic found that inherited pathogenic variants in genes BARD1 and RAD51D increase a woman's likelihood of developing breast cancer. The study also confirmed the involvement of other genes such as ATM, CHEK2 and PALB2 in breast cancer risk.
Researchers identified altered genes and noncoding genetic material that could serve as predictive treatment biomarkers or targets for therapy. The study found that ATRX mutations were associated with aggressive NF1-related brain cancers, while a microRNA called miR-487b was underexpressed in tumor tissue.
Researchers at Rockefeller University found genetic evidence of bacteria capable of producing compounds with potent effects as medicines in urban soil. The study identified a wide range of natural products with potential therapeutic applications, including antibiotics and antifungal agents.
Researchers developed DECoN, a free, fast tool that detects exon copy number variants, which are hard to pick up by standard DNA sequencing tests. This allows for more efficient and effective gene testing, making it potentially life-saving.
Researchers have developed a blood test that can predict how well small-cell lung cancer (SCLC) patients will respond to chemotherapy. The test analyzes patterns of genetic faults in circulating tumour cells, providing insight into treatment response and drug resistance mechanisms.
Researchers have created a mouse model that replicates the human genetic flaw causing infant leukemia, making it easier to study. The model mimics the disease found in humans both phenotypically and molecularly, with all mice developing Pro-B ALL identical to patient cases within 22 weeks.
A study found that breast cancer patients receiving chemotherapy with high genetic susceptibility had the highest risk of VTE. The one-year cumulative incidence of VTE was 9.5% in these patients, compared to 1.3% in those without high genetic susceptibility.
The OncoArray technology uses a novel, inexpensive genotyping microarray to analyze DNA variations associated with cancer. Researchers have identified over 100 new loci contributing to common cancers, including lung, colon, breast, ovarian, and prostate cancers.
A portable device enables medical staff to genetically modify blood stem cells at a lower cost and with reduced staffing requirements. The technology has the potential to make gene therapy more accessible to patients in developing countries, reducing the need for expensive clean rooms.
Scientists identified noncoding mutations that disrupt cooperative function of 'gene families' in Hirschsprung's disease, a rare genetic disorder. The study suggests that dysfunctional gene networks may influence other complex diseases, such as cancer and diabetes.
Cedars-Sinai has awarded nearly $700,000 to scientists developing new treatments and technologies for precision health. The goal is to tailor therapies and medications for specific patients based on their molecular makeups.
The UT Southwestern Medical Center has transferred nearly 175,000 induced germline mouse mutations to the NIH-supported Mutant Mouse Resource and Research Centers, significantly increasing their availability for researchers worldwide. These mutations are critical for supporting genetic research in all mammals, including humans.
Researchers discovered 15 gene mutations that contribute to more aggressive colon cancer in African-Americans, resulting in higher recurrence and metastasis rates. These findings explain the disparity in colorectal cancer rates and death rates between African-Americans and other groups.
Researchers found that mismatch repair machinery preferentially protects genetic integrity in open chromatin regions, increasing mutation rates in heterochromatic areas. This study provides direct evidence for the role of epigenetic systems in maintaining genetic fidelity.
Researchers at Arizona State University developed a new method to predict which BE patients are at risk of developing cancer. The study highlights the power of studying genetic diversity as a reliable predictor of cancer development and spread.
CPRIT awards UT Southwestern Medical Center $9.6 million for various cancer research projects, including lung cancer treatment and prevention efforts. The funding will support research into how cancer cells grow, target breast cancer survivors with active living interventions.
Researchers identified genetic markers associated with a fast rate of nicotine metabolism in smokers, leading them to smoke more cigarettes to maintain stable nicotine levels. This finding could identify smokers at greater risk for lung cancer, enabling doctors and public health leaders to improve prevention strategies.
A new study by Queen Mary University of London found that certain Barrett's Oesophagus cells can be identified as 'born to be benign' or 'bad', allowing for early detection and prevention of oesophageal cancer. The test uses genetic analysis of individual cells, predicting future risk regardless of time since abnormal cell appearance.
Decades of research on nearly 200,000 survivors and their children reveal cancer rates are not as dire as previously thought. Cancer incidence among survivors was only 10% higher than non-exposed populations, with most receiving a relatively modest dose of radiation.
Research by University of North Texas historian Constance Hilliard reveals that West African women living in regions without dairy farming have a lower rate of postmenopausal hip fractures caused by osteoporosis than their East African peers. This paradox is due to genetic adaptation to low-calcium diets, which disadvantage bone strength.
Increased support for minority-focused research and community-based participatory research can improve understanding of chronic diseases across races and ethnicities. Policy recommendations include increasing non-white participant enrollment, educating healthcare providers, and funding research on gene-environment interactions.
Researchers found that over half of patients with a rare form of sarcoma had genetic errors in genes known to increase cancer risk, such as p53 and BRCA1. This study provides new clues to the phenomenon of 'cancer families' and suggests that multiple genetic mutations working together may contribute to inherited cancer predisposition.
Scientists have identified a rare genetic alteration in the MSH3 gene that is associated with a new form of hereditary colon cancer. The discovery has significant implications for diagnosis and treatment, as it offers a clear diagnosis for some cases of polyposis and allows for targeted surveillance and prevention.
Researchers at University Hospitals Seidman Cancer Center have identified a rare gene variant associated with familial Barrett esophagus (FBE) and esophageal cancer. The study found that this mutation disrupts normal esophageal lining maturation, increasing disease risk.
A recent study by Sanford Health identified gene mutations that could impact treatment for adult cancer patients. The study found nearly 90% of patients had genes that matched treatment options, with 40% able to receive personalized therapy.
A study at the University of Texas MD Anderson Cancer Center found that genetic mutations in DNA mismatch repair deficiency (dMMR) are present in 15% of colorectal cancer cases. The study identified MSH2 and MSH6 as the most commonly affected genes, providing a new approach to diagnosis and treatment using precision medicine.
A new rare genetic condition has been discovered, characterized by severe infections and lung disease in infants. The NSMCE3 gene mutations were found to be responsible for the devastating symptoms, offering a potential explanation and diagnostic tool for this deadly disease.
Researchers created a comprehensive map of genetic and epigenetic lesions in human tumors, predicting responses to various cancer drugs. The study integrated 1,000 tumor cell lines with genetic, epigenetic, and expression alterations, validating results in 11,000 additional human samples.
Researchers are seeking to understand why African-American women die at a higher rate and experience more aggressive breast tumors than white women. The new study aims to identify genetic variants related to breast cancer in African-American women, which may lead to better treatments and prevention.
Researchers identified genetic mutations in immune system genes that may lead to synchronous colorectal cancer, a rare type of bowel tumor. The study found that these patients have inherited damaging mutations that can cause an inflammatory environment in the gut, increasing the frequency of independent cancer-initiating events.
A study published in JAMA Oncology found that women with the BRCA1 gene mutation have a significantly higher risk of developing serous endometrial cancer, which has a mortality rate of 50%. The study suggests that women with this genetic mutation should consider removing their uterus along with their ovaries and fallopian tubes. Resear...
The Canadian Coalition for Genetic Fairness (CCGF) and Senator James Cowan will receive the ASHG Advocacy Award for their work on a bill preventing genetic discrimination in Canada. The award recognizes their efforts to pass legislation protecting individuals from genetic testing and discrimination.
A Yale-led study found that the EGFR cancer gene silences tumor suppressor genes in lung and glioblastoma brain cancers using a common mechanism. This discovery informs future research directions and may help determine how effective treatments will be against different EGFR mutations.
Researchers at UNC Lineberger Comprehensive Cancer Center have discovered how a faulty genetic instruction drives the development of acute myeloid leukemia (AML) in adults. A mutation in the DNMT3A gene gives normal cells faulty instructions, leading to immature blood cells that can become cancerous.