Research led by UChicago uncovers a genetic mutation that can lead to a rare form of thyroid abnormality.
“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.
Below are summaries of recent Fred Hutch Cancer Center research findings, patient stories and other news.
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.
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.
A research team has substantially enhanced the annotation of the sweetpotato genome 'Taizhong 6', introducing a more comprehensive and detailed version, v1.0.a2.
An international consortium published the final results of a key clinical trial of the gene therapy CASGEVY (exagamglogene autotemcel) for the treatment of sickle cell disease in patients 12 years and older with recurrent vaso-occlusive crises (VOCs).
A new study led by Indiana University School of Medicine researchers found a brain network condition called “explosive synchronization” could be the cause of extreme pain crises in people with sickle cell disease.
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.
The genus Musa, encompassing approximately 70 herbaceous species, is predominantly found in the tropical and subtropical regions of Asia and Oceania.
A research team completes a high-quality chromosome-scale assembly of the 'Chuanhonghua 1' safflower genome.
A three-year, $1.19 million grant from the Tobacco-Related Disease Research Program will allow University of California, Irvine researchers to explore how specific sections of DNA might influence nicotine addiction. Deeper insights into these neurological processes may lead to more effective prevention and treatment strategies for cigarette smoking and vaping habits.
Pick's disease, a neurodegenerative disease of unknown genetic origin, is a rare type of frontotemporal dementia that affects people under the age of 65.
By utilizing the power of electronic medical records, researchers from UC San Diego are uncovering the genetics of tobacco use, which would help scientists discover new ways to stop occasional tobacco use from evolving into tobacco use disorder.
For the study, which involved patients from across the world, Yale Cancer Center (YCC) researchers at Yale School of Medicine (YSM) analyzed the genetic landscape of 66 tumors, the largest series of cervical NET ever reported in scientific literature.
A research team has elucidated the role of polyploidy in the evolution and breeding of vegetable crops, leveraging advanced sequencing technologies to dissect the genetic and epigenetic nuances of polyploids.
A research team has made strides in uncovering the genetic foundations of flower color variation within the Rhododendron genus.
A research team has unveiled 20 β-galactosidase (BGAL) genes within the longan genome, highlighting their crucial roles in embryogenic development and heat stress adaptation.
Human papillomavirus (HPV) is the second most common cancer-causing virus, accounting for 690,000 cervical and other cancers each year worldwide.
A new CU Boulder study sheds light on how genes associated with smoking work in conjunction with the rest of the genome, paving the way for more personalized approaches to help people kick the habit.
A study by Joemy Ramsay, PhD, suggests families with infertile male relatives may face elevated cancer risks. Tapping into genetic data, families could help personalize cancer risk assessments.
Researchers at IRB Barcelona report mutation rate variation across the human genome. Regions with low mutation rates correlate with hypomethylation (low methylation levels), a way cells control which genes are turned on or off.
Scientists have unraveled the mechanisms of the Cyclic guanosine monophosphate-adenosine monophosphate synthase-stimulator of interferon genes (cGAS-STING) signaling pathway activated by micronuclei, as well as its significant effects on tumor immunity.
A mutation in a protein regulating natural killer (NK) cells’ function is at the root of immune deficiency in some people with a rare genetic condition characterized by cognitive and developmental delay, seizures, and other manifestations. The findings also have broader implications for immunity and cell therapies.
Haley Omeasoo was already studying forensic science at the University of Montana when she saw the poster that redefined her life.
A research team led by the University of California, Irvine has built the first genetic reference maps for short lengths of DNA repeated multiple times which are known to cause more than 50 lethal human diseases, including amyotrophic lateral sclerosis, Huntington’s disease and multiple cancers.
Genetic analysis finds evidence suggesting that acoustic fat bodies in the heads of toothed whales were once the muscles and bone marrow of the jaw.
Some people have genes that protect them from alcohol abuse. An examination of databases at 23andMe reveal that those same alcohol-protective variants have associations with conditions and behaviors that may have nothing to do with alcohol.
On March 27, 2024, Ann & Robert H. Lurie Children’s Hospital of Chicago treated its first patient with ELEVIDYS (delandistrogene moxeparvovec-rokl), the first gene therapy for Duchenne muscular dystrophy – a rare, genetic disease characterized by progressive muscle damage and weakness.
Passion fruit (Passiflora edulis), renowned for its nutritional richness and aromatic fruits, is widely cultivated in tropical and subtropical regions.
Carnation (Dianthus caryophyllus L.) is a flower widely cultivated for its appealing apperance and frangance.
A team of researchers used DNA to reconstruct the appearance of Chinese Emperor Wu of Northern Zhou, who lived 1,500 years ago.
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