An extra copy of a gene that controls synapse formation in the cortex causes excessive inhibitory signaling and may contribute to Down syndrome, according to a new study publishing April 20th in the open access journal PLOS Biology by Bing Ye of the University of Michigan, US, and colleagues.
Cedars-Sinai investigators have identified a genetic variant that increases people’s risk of developing perianal Crohn’s disease, the most debilitating manifestation of Crohn’s disease.
Obesity and its associated cardiometabolic issues are a major health concern in the U.S. and internationally. According to a study published in 2017, 12% of the world's adult population was affected by obesity in 2016, double the percentage from 30 years earlier.
Details of the mechanisms at the cellular level remain hidden from view. Now, special reporter proteins developed by a research team led by the Technical University of Munich (TUM) may help unveil these mechanisms.
University of School of Medicine researchers have identified a gene that plays a crucial role in determining our risk for heart attacks, deadly aneurysms, coronary artery disease and other dangerous vascular conditions.
Vitamin D deficiency could be the reason African American men experience more aggressive prostate cancer at a younger age compared with European American men, new research from Cedars-Sinai Cancer suggests.
Vestibular schwannomas related to neurofibromatosis type 2 (NF2) are difficult to manage and are sometimes treated with a noninvasive option, stereotactic radiosurgery. A retrospective study conducted by an international, multicenter team found that stereotactic radiosurgery is effective for patients with these tumors while preserving serviceable hearing and not causing radiation-related tumor development or malignant transformation.
Tisch Cancer Center scientists have developed unique models of the deadliest blood cancer, acute myeloid leukemia (AML), creating a transformative resource to study this cancer and eventually its drug response and drug resistance. The models were described in a late-breaking abstract at the annual meeting of the American Association of Cancer Research and simultaneously published in Blood Cancer Discovery, a journal of the American Association for Cancer Research.
A new study led by researchers at The University of Texas MD Anderson Cancer Center discovered that co-occurring mutations in three tumor suppressor genes – KEAP1, SMARCA4 and CDKN2A – are linked with poor clinical outcomes in patients with KRAS G12C-mutant non-small cell lung cancer (NSCLC) treated with the KRAS G12C inhibitors adagrasib or sotorasib.
Long obscured in the shadows of history, the world’s first nomadic empire - the Xiongnu - is at last coming into view thanks to painstaking archaeological excavations and new ancient DNA evidence.
Cedars-Sinai investigators, in collaboration with Axiom Space of Houston, are sending stem cells to space in early May to explore whether microgravity can make it easier and more efficient to produce large batches of stem cells.
Scientists at St. Jude Children’s Research Hospital and the Broad Institute of MIT and Harvard showed how prime editing can correct mutations that cause sickle cell disease in a potentially curative approach.
Discovery of a gene in multiple mammalian species could pave the way for a highly effective, reversible and non-hormonal male contraceptive for humans and animals.
The Association for Research in Vision and Ophthalmology (ARVO) announced today that Patrick Yu-Wai-Man, MD, PhD (University of Cambridge, U.K.), is the 2023 recipient of the Ludwig von Sallmann Clinician-Scientist Award.
To better understand the inner workings of the seemingly enigmatic Xiongnu empire, an international team of researchers at the Max Planck Institutes for Evolutionary Anthropology (MPI-EVA) and Geoanthropology (MPI-GEO), Seoul National University, the University of Michigan, and Harvard University conducted an in-depth genetic investigation of two imperial elite Xiongnu cemeteries along the western frontier of the empire: an aristocratic elite cemetery at Takhiltyn Khotgor and a local elite cemetery at Shombuuzyn Belchir.
When it comes to height, our fate is sealed along with our growth plates—cartilage near the ends of bones that hardens as a child develops. Research publishing April 14 in the journal Cell Genomics shows that cells in these plates determine the length and shape of our bones and can hint at our stature.
The presence of a misfolded alpha-synuclein protein can be used to determine if people have Parkinson’s disease, according to a new study using technology developed by a researcher at UTHealth Houston. This biomarker could pave the way for the development of better diagnostic tools and new treatment options for the disease.
UC San Diego Researchers describe for the first time how the Epstein-Barr virus exploits genomic weaknesses to cause cancer while reducing the body’s ability to suppress it.
Scientists from the University of California, Irvine, the University of Michigan and the University of Texas MD Anderson Cancer Center have made a significant contribution to the field of pancreatic cancer research. Their new study presents several crucial themes in the biology of pancreatic cancer that can serve as hallmarks for pancreatic cancer therapy.
Scientists have traced the origin of a unique protein key to vertebrate’s camera-like vision back 500 million years. Their analysis of more than 900 genomes across the tree of life revealed that the protein came through horizontal gene transfer from foreign bacterial genes.
The National Comprehensive Cancer Network (NCCN) and the NCCN Foundation announce four winners for the 2023 NCCN Foundation Young Investigator Awards. These annual awards honor up-and-coming leaders in oncology research working to investigate and advance cancer care.
Diffuse intrinsic pontine glioma (DIPG) is a lethal pediatric brain cancer that often kills within a year of diagnosis. Surgery is almost impossible because of the tumors’ location. Chemotherapy has debilitating side effects. New treatment options are desperately needed.
An international coalition of biomedical researchers co-led by Alexander Bick, MD, PhD, at Vanderbilt University Medical Center has determined a new way to measure the growth rate of precancerous clones of blood stem cells that one day could help doctors lower their patients’ risk of blood cancer. The technique, called PACER, led to the identification of a gene that, when activated, drives clonal expansion.
Coaxing blood cells from patients to develop into three-dimensional brain “organoids” is allowing scientists at University of Utah Health to gain insights into pediatric bipolar disorder.
Researchers of the Genome Dynamics Project team at Tokyo Metropolitan Institute of Medical Science ·revealed new mechanism controlling cellular proliferation in response to serum, which triggers growth of resting cells.
Proteins are components of every cell. How they have changed in the course of evolution for the purpose of taking on new functions in the body, has long been a subject of research.
Rutgers geneticists, working with an international team of scientists, have conducted the most comprehensive sequencing yet of the complete DNA sequence of the little skate – which, like its better-known cousin, the stingray, has long been viewed as enigmatic because of its shape. The scientists, writing in Nature, reported that by studying the intricacies of Leucoraja erinacea’s genome, they have gained a far better understanding of how the fish evolved from its ancestor – which possessed a much narrower body – over a period of 300 million years to become a flat, winged bottom-dweller.
The University of Texas MD Anderson Cancer Center’s Research Highlights showcases the latest breakthroughs in cancer care, research and prevention. These advances are made possible through seamless collaboration between MD Anderson’s world-leading clinicians and scientists, bringing discoveries from the lab to the clinic and back. This special edition features presentations by MD Anderson researchers at the American Association for Cancer Research (AACR) Annual Meeting 2023.
Pests and diseases may reduce global wheat yields by over 20%. A study published April 11th in the open access journal PLOS Biology by Sergio Latorre at University College London, UK and colleagues suggest that genomic surveillance may be an effective disease management tool with the ability to trace lineages of emerging crop diseases, and to identify genetic traits for breeding disease-resistant lines.
Beyond vaccines, mRNA offers immense potential to fight disease, but targeting the genetic material to specific diseased cells is challenging—requiring a new method. To meet this need, researchers at the Case Western Reserve University School of Medicine, with a Global Research Fellowship award from Moderna Inc., are developing a process that essentially uses bubbles to overcome the problem.
Mention fungi, and most people will probably think of the mushrooms they pick in fall, or maybe the yeast they add when baking or making wine. Others will perhaps recall last week’s mouldy bread – or cucumbers gone bad in the refrigerator. Indeed, mycologists have studied these fungi as sources of food and fermentation but also decay and disease for centuries.
The study of immunotherapy for treating triple negative breast cancer might still be at its early stages of development but is full of future promise.
St. Jude Children’s Research Hospital scientists developed a combination therapy for a leukemia subtype harboring rearrangements in the KMT2A gene. The approach overcomes the cancer’s drug resistance, without adding toxicity. The study appears in Proceedings of the National Academy of Science.
Semislugs, or ‘snugs’ as they are affectionately known among mollusc researchers, are like the squatters of the snail world: they do carry a home on their back but it is too small to live in. Still, it offers a sort of protection, while not getting in the way of the worm-like physique of the slug.
Mutations in our genes can lead to severe problems, like colon or liver cancer. But cancer is very complex. Mutations in the same genes can lead to different subtypes of tumors in different people. Currently, scientists don’t have a good way to produce such tumor subtypes for study in the lab.
UNC School of Medicine scientists demonstrated that stimulating a brain region called Supramammilary nucleus (SuM) located in the hypothalamus effectively enhanced adult-born neurons in the otherwise impaired Alzheimer’s brains of mice.
Yale Cancer Center (YCC) and Smilow Cancer Hospital (SCH) physicians and scientists are presenting research studies at the 2023 American Association for Cancer Research (AACR) Annual Meeting at the Orange County Convention Center in Orlando, Florida, April 14 to 19th.
People with autism spectrum disorder can be classified into four distinct subtypes based on their brain activity and behavior, according to a study from Weill Cornell Medicine investigators.
Alagille syndrome, a genetic disease estimated to affect 1 in 30,000 individuals, is caused by mutations in the gene JAG1 in most cases. The mutations affect multiple organs including the liver where it often results in cholestasis, a condition in which the flow of bile from the liver stops or slows, leading to bile buildup that in time causes liver damage.
A team of researchers compared the genomes of woolly mammoths with modern day elephants to find out what made woolly mammoths unique, both as individuals and as a species. The investigators report April 7 in the journal Current Biology that many of the woolly mammoth’s trademark features—including their woolly coats and large fat deposits—were already genetically encoded in the earliest woolly mammoths, but these and other traits became more defined over the species’ 700,000+ year existence.
A team of scientists led by those in Trinity College Dublin has discovered new mechanisms involved in establishing cellular identity, a process that ensures the billions of different cells in our bodies do the correct job.
Acute myeloid leukemia (AML) is an aggressive blood cancer that causes uncontrolled accumulation of white blood cells. Because of the poor outcomes of this disease, researchers across the globe have been on the hunt for new ways to treat AML, while preserving normal blood development.
A team led by researchers at Weill Cornell Medicine, the University of Wisconsin-Madison; Scripps Research and the University of Chicago has identified an antibody that appears to block infection by all dominant variants of the virus that causes COVID-19, including Omicron, the most recent. Their discovery could lead to more potent vaccines and new antibody-based treatments.
A team of scientists at the Medical University of South Carolina (MUSC) has identified a stress-regulated gene that plays a role in the link between long-term stress and a common type of depressive behavior in mice.
Analysing changes to DNA in the blood can improve the ability to predict a person’s risk of developing type 2 diabetes within a decade.
Proteins are the key players for virtually all molecular processes within the cell. To fulfil their diverse functions, they have to interact with other proteins. Such protein-protein interactions are mediated by highly complementary surfaces, which typically involve many amino acids that are positioned precisely to produce a tight, specific fit between two proteins. However, comparatively little is known about how such interactions are created during evolution.
Ribonucleic acid (RNA) molecules are present in all living cells, with different types of RNA having different jobs. For example, messenger RNA is copied from DNA and carries instructions on how to make a protein. Transfer RNA (tRNA) links the mRNA sequence with its corresponding amino acid, ensuring that proteins are stitched together correctly as instructed by DNA.
Experts from Fred Hutchinson Cancer Center will present their latest findings on targets in RIT1-driven cancers, ROR1 CAR T-cell immunotherapy, interplay of the microbiome and genetics in colorectal cancer and more at the annual meeting of the American Association for Cancer Research, to be held April 14-19 in Orlando, Florida.
Researchers were able to analyze 53 million patient notes from more than 1.5 million individual patients to identify similarities in their medical histories that can help pinpoint potential risks for developing future diseases and the trajectory of those conditions. This method of identifying phenotypic similarities exceeds the capacity any other current computational models.
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