A team of researchers at Children’s Hospital Los Angeles recently published a genomic study that uncovered two classes of genetic causes for chordoma in children by conducting some genomic detective work.
Researchers at the Icahn School of Medicine at Mount Sinai and others have identified a neurodevelopmental disorder, caused by mutations in a single gene, that affects tens of thousands of people worldwide. The work, published in the May 31 online issue of Nature Medicine [DOI: 10.1038/s41591-024-03085-5], was done in collaboration with colleagues at the University of Bristol, UK; KU Leuven, Belgium; and the NIHR BioResource, currently based at the University of Cambridge, UK. The findings will improve clinical diagnostic services for patients with neurodevelopmental disorders.
During pregnancy, the effects of therapeutical doses of amphetamine have been investigated on birth outcomes in humans. However, a thorough investigation of the mechanisms underlying the long-term effects of embryonal exposure to addictive doses of amphetamine remains largely unexplored.
Published May 28 in Nature Communications, bioengineer Matthias Stephan, MD, PhD, and his Fred Hutch team report that a foaming liquid worked better than a standard liquid formulation at transferring gene therapy components to cells in laboratory studies.
A widely found gene in plants has been newly identified as a key transporter of a hormone that influences the size of corn. The discovery offers plant breeders a new tool to develop desirable dwarf varieties that could enhance the crop’s resilience and profitability.
The 120 attendees are using Utah’s uniquely strong genetics resources to answer fundamental biological questions and develop solutions to urgent issues in human health.
A groundbreaking study led by UCLA Health has unveiled the most detailed view of the complex biological mechanisms underlying autism, showing the first link between genetic risk of the disorder to observed cellular and genetic activity across different layers of the brain.
UC San Diego biologists have provided new insights on a longstanding puzzle in biology: How complex organisms arise from a single fertilized cell. Producing a new “gene atlas” with 4-D imaging, the researchers captured unprecedented insights on how embryonic development unfolds.
Using new sequencing technologies, UCLA and University of Pennsylvania researchers uncovered 214,516 unique isoforms in the developing neocortex — over 70% of which have not been previously studied.
Ohalo™ announced today the discovery of Boosted Breeding™, an entirely new plant breeding technology that will revolutionize agriculture and sustainably improve crop productivity.
Cold stress significantly hampers tomato growth and yield. Recent research reveals that 5-aminolevulinic acid (ALA) enhances cold tolerance in tomatoes by regulating the SlMYB4/SlMYB88-SlGSTU43 gene module. This discovery opens new avenues for genetic engineering to develop cold-resistant tomato varieties, potentially ensuring better crop resilience and productivity under low-temperature conditions.
A new assembly toolkit, an efficient assembly toolkit (PMAT), is set to revolutionize the study of plant mitochondrial genomes (mitogenomes), offering an unprecedented approach to understanding plant evolution and cytoplasmic male sterile line breeding. This tool stands to overcome significant challenges in the complete assembly of plant mitogenomes, a task previously hindered by complex recombination events and horizontal gene transfers.
Current methods to model or correct mutations in live cells are inefficient, especially when multiplexing — installing multiple point mutations simultaneously across the genome. Researchers from the UC San Diego have developed new, efficient genome editing tools called multiplexed orthogonal base editors (MOBEs) to install multiple point mutations at once.
A study has tapped into the peach genome, creating large-scale gene coexpression networks (GCNs) that predict gene functions and streamline the peach breeding process. This innovative approach addresses the complex task of identifying genes linked to desirable breeding traits in peaches.
A recent study has unlocked the genetic secrets behind the sweetness of strawberries, a key factor in consumer preference. The research identifies key genetic markers that influence both the sugar content and yield of strawberries, offering a significant step forward in the breeding of sweeter, more productive varieties.
New genomic insights from researchers unveil critical genes influencing apple fruit size and shape. Through a comprehensive genome-wide association study, the study identifies several genetic markers linked to these traits, offering potential for enhanced breeding strategies.
From lemur poop to good old human poop, our waste has a story to tell. The U.S. Department of Energy’s (DOE) Argonne National Laboratory’s Environmental Sample Preparation and Sequencing Facility (ESPSF) has the tools and technology to get to the bottom of genetic mysteries from the natural world. Facility Manager Sarah Owens can help shed light on the quirkier side of genetics.
The Foundation Fighting Blindness, the driving force in the global development of treatments and cures for blinding diseases, announces today its partnership with PreventionGenetics, a part of Exact Sciences, as its new genetic laboratory partner for the My Retina Tracker Genetic Testing Program.
Survey reveals nearly three-quarters of U.S. adults support using emerging technology to screen embryos during IVF for risk of developing certain health conditions or traits that arise from more than one gene.
Only about one-third of respondents approved of using the technology to predict traits unrelated to disease.
Nearly all expressed concerns about potential negative outcomes for individuals or society.
Findings underscore need for public education about benefits, limitations, ethical hazards of polygenic risk scores for embryos.
Researchers say the discovery of very high genetic diversity in leopards found in the Highveld region of South Africa has increased the need for conservation efforts to protect leopards in the country.
Researchers at the Icahn School of Medicine at Mount Sinai have made a significant discovery, identifying genetic connections between inflammatory bowel disease (IBD) and Parkinson’s disease (PD). Published in Genome Medicine on May 13, their study highlights the potential for joint therapeutic strategies to target these two challenging disorders.
Researchers at Fred Hutch Cancer Center have found in pre-clinical studies that an experimental gene therapy for genital and oral herpes removed 90% or more of the infection and suppressed how much virus can be released from an infected individual, which suggests that the therapy would also reduce the spread of the virus.
Understanding the human exposome — a person’s myriad health exposures over a lifetime — can reveal unknowns about diseases not explained fully by our DNA. Artificial intelligence will be indispensable in efforts to understand the role of biology and environment in disease and health.
A team led by researchers at UT Southwestern Medical Center developed deep learning models to identify a simple set of rules that govern the activity of promoters – regions of DNA that initiate the process by which genes produce proteins. Their findings, published in Science, could lead to a better understanding of how promoters contribute to gene regulation in health and disease.
Spina bifida is the most common structural disorder of the human nervous system. The causes are largely unknown, but University of California San Diego researchers led a study that points to a link involving a chromosomal microdeletion — and also underscores the value of folic acid as a preventive measure.
In a groundbreaking study published May 2, 2024 in Neuron, researchers have identified four new genetic risk factors for multiple system atrophy (MSA), shedding light on this poorly understood disorder.
“The independent research groups, led by Prof. Scott W. Lowe and Christina Curtis,respectively, have uncovered a similar definitive pathway in the progression of gastric cancer (GC) initiated with loss of the TP53 gene, representing a milstone in understanding the early stages of this deadly disease”. Dr. Zhaocai Zhou, head of a GC laboratory from Fudan University, stated.
In research that may be a step forward toward finding personalized treatments for Tourette disorder, scientists at Rutgers University–New Brunswick have bred mice that exhibit some of the same behaviors and brain abnormalities seen in humans with the disorder. As reported in the Proceedings of the National Academy of Sciences, the researchers, using a technique known as CRISPR/Cas9 DNA editing, inserted the same genetic mutations found in humans with Tourette disorder into the corresponding genes in mouse embryos.
Researchers from the Gene Therapy Program (GTP) at the Perelman School of Medicine at the University of Pennsylvania will present ten research abstracts, two invited talks, and a workshop presentation highlighting their translational science and discovery research on gene therapy, gene editing, and adeno-associated virus (AAV) vector technology at the American Society of Cell and Gene Therapy (ASGCT) 27th Annual Meeting on May 7 - 11, 2024 in Baltimore, Maryland.
A national survey led by Ann & Robert H. Lurie Children’s Hospital of Chicago found that parents have insufficient knowledge of newborn screening in general and of cystic fibrosis (CF) in particular.
A new approach to gene therapy resets cell homeostasis. Clinical trials to treat the retinal disorders Retinitis Pigmentosa, Stargardt's, and Geographic Atrophy (late dry macular degeneration) are underway and showing promise.
The world’s largest study of cerebral palsy (CP) genetics has discovered genetic defects are most likely responsible for more than a quarter of cases in Chinese children, rather than a lack of oxygen at birth as previously thought.
Researchers have revealed crucial insights into how the Warburg effect causes the dedifferentiation of cancer cells through epigenetic reprogramming. This discovery potentially opens up new avenues for cancer treatments that target cellular metabolism.
Viruses known as “jumbo” phages are seen as a potential tool against deadly bacterial infections. But scientists must first decipher the extraordinary makeup of these mysterious viruses. Researchers have now uncovered a key piece of jumbo phage development that helps them counter bacteria.
Researchers have identified a causal genetic variant strongly associated with childhood obesity. The study provides new insight into the importance of the hypothalamus of the brain and its role in common childhood obesity and the target gene may serve as a druggable target for future therapeutic interventions.
In an effort to improve delivery of costly medical treatments, a team of researchers in electrical engineering at the University of Wisconsin–Madison has developed a stimulating method that could make the human body more receptive to certain gene therapies.
A recent study in gastrointestinal (GI) cancer research reveals a promising advancement in predicting patient responses to immune checkpoint inhibitor (ICI) therapy. The newly developed DNA damage response-related immune activation (DRIA) signature could serve as a groundbreaking biomarker, providing valuable guidance for ICI therapy decisions.
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Researchers at the University of Vienna, along with collaborators from France, Germany, Switzerland and the USA, have achieved a major breakthrough in understanding how genetic drivers influence the evolution of a specific photosynthesis mechanism in Tillandsia (air plants). This sheds light on the complex actions that cause plant adaptation and ecological diversity. The results of their study are now published in Plant Cell.
Researchers at Iowa State University have identified two genes that can help rice defend itself against diseases, including the devastating fungal blast pathogen that regularly causes significant losses of rice production worldwide.
Spinocerebellar ataxia 4 is a devastating progressive movement disorder. A multinational study has now conclusively identified the genetic difference that causes the disease, bringing answers to families and opening the door to future treatments.
University of Minnesota Twin Cities researchers have constructed a robot that uses machine learning to fully automate a complicated microinjection process used in genetic research.
A new UCLA Health study found certain genetic variants could help explain how long-term pesticide exposure could increase the risk of Parkinson’s disease.