Feature Channels: Genetics

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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.

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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.

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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.

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A research team has made strides in uncovering the genetic foundations of flower color variation within the Rhododendron genus.

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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.

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Human papillomavirus (HPV) is the second most common cancer-causing virus, accounting for 690,000 cervical and other cancers each year worldwide.

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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.

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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.

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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.

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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.

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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.

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Haley Omeasoo was already studying forensic science at the University of Montana when she saw the poster that redefined her life.

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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.

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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.

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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.

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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.

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Passion fruit (Passiflora edulis), renowned for its nutritional richness and aromatic fruits, is widely cultivated in tropical and subtropical regions.

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Carnation (Dianthus caryophyllus L.) is a flower widely cultivated for its appealing apperance and frangance.

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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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When Elisa Schoenfeld, a child development specialist, learned she had tested positive for a BRCA gene mutation, she knew it raised her risk for breast and ovarian cancer. She and her daughter, Amira, who received similar genetic test results, visited the BRCA Ovarian Previvor Clinic at Cedars-Sinai.

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The seven funded projects range from an investigation of the potential benefits of virtual reality-based “nature” experiences for hospital patients, to tools that allow scientists to make full use of huge databases of biomedical information.

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A roundup of the latest medical discoveries and faculty news at Cedars-Sinai for March 2024.

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Cedars-Sinai Cancer investigators attending the American Association for Cancer Research Annual Meeting April 5-10 in San Diego are available to comment on scientific advances being presented throughout the conference.

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A new study recently published in Nature Structural and Molecular Biology uses leading-edge cryo-electron microscopy imaging technology to determine whether differences exist between the protein structures in those with Alzheimer’s disease and those with both Alzheimer’s disease and Down syndrome.

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DNA replication—which happens when cells divide—is one of the most important processes in all living organisms. In a landmark finding, published today in Cell, scientists identified a multi-protein “machine” in cells that helps govern the pausing or stopping of DNA replication to ensure its smooth progress.

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New research from the University of Wisconsin–Madison decodes the evolutionary pathway of regulatory proteins, the molecules that help control gene expression.The findings from the Raman Lab in the Department of Biochemistry recently published their findings in the journal Cell Systems.

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In many ways, Treasure Newton is your typical 17-year-old. She loves hanging out with her friends and family, trying new recipes and doing her makeup. But unlike most teens, she knows exactly what she wants to be when she grows up.

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Persons with a higher genetic risk of obesity need to work out harder than those of moderate or low genetic risk to avoid becoming obese, according to a Vanderbilt University Medical Center (VUMC) paper published in JAMA Network Open.

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A research study recently published in the American Journal of Gastroenterology explains the role of pancreatic enzyme therapy (PERT) in reducing the frequency of acute pancreatitis (AP) in children suffering from acute recurrent pancreatitis (ARP) or chronic pancreatitis (CP).

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National Eye Institute researchers studying human retinas discovered 87 target genes where a mix of environmental factors likely influence one’s risk of developing age-related macular degeneration (AMD), a leading cause of vision loss in people ages 65 and older.

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While CRISPR has shown immense promise as a next-generation therapeutic tool, the gene editing technology’s edits are still imperfect. Researchers have developed a new system to test and analyze CRISPR-based DNA repair and related risks from unintended but harmful “bystander” edits.

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Ludwig van Beethoven, one of the most celebrated musicians in human history, has a rather low genetic predisposition for beat synchronization, according to a Current Biology study co-authored by Vanderbilt University Medical Center (VUMC) and the Max Planck Institutes for Empirical Aesthetics in Frankfurt am Main, Germany, and for Psycholinguistics in Nijmegen, the Netherlands.

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A study is the first to evaluate substrate recolonization by sponges in the U.S. Virgin Islands after two catastrophic storms using genetic analyses to understand how much clonality verses sexual recruitment occurs on coral reefs post-storms.

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Irvine, Calif., March 21, 2024 – A new study led by the University of California, Irvine has revealed a potential shift in our basic knowledge of the origins of birth defects, which affect about 3 percent of babies born in the United States each year.

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Human artificial chromosomes (HACs) capable of working within human cells could power advanced gene therapies, including those addressing some cancers, along with many laboratory applications, though serious technical obstacles have hindered their development.

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Using novel genetic and genomic tools, researchers at the Icahn School of Medicine at Mount Sinai have shed light on the role of immune cells called macrophages in lipid-rich tissues like the brain, advancing our understanding of Alzheimer’s and other diseases.

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Animal reproductive medicine, theriogenology, helps with breeding and conservation of species, says Tufts University faculty member.

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Investigators at Cedars-Sinai have identified risk factors that make inflammatory bowel disease (IBD) patients susceptible to developing serious conditions in other parts of their bodies.

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The blue whale genome was published in the journal Molecular Biology and Evolution, and the Etruscan shrew genome was published in the journal Scientific Data.

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Yale Cancer Center (YCC) and Smilow Cancer Hospital physicians and scientists will share new data for breakthrough and emerging cancer treatments as well as new discoveries in obesity, tobacco, evolution, and early onset cancers in early April at the American Association for Cancer Research (AACR) annual meeting.

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Researchers identified several differences in DNA methylation in people who experienced preeclampsia during pregnancy, according to a new study from Oregon Health & Science University.

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A new population study led by researcher Tomas Paus , professor of psychiatry and neuroscience at the University of Montreal and researcher at CHU Sainte-Justine, highlights the respective roles of maternal and fetal genes in the growth of the baby's cerebral cortex .

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An Iowa State University research team built a shortened form of the gene that causes a deadly childhood disease, which will make searching for potential treatments quicker and more effective. It’s the first-ever super minigene, a concept that could be used to make easier-to-study versions of genes linked to other illnesses.

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Repeats of DNA sequences, often referred to as “junk DNA” or “dark matter,” that are found in chromosomes and could contribute to cancer or other diseases have been challenging to identify and characterize. Now, investigators at the Johns Hopkins Kimmel Cancer Center have developed a novel approach that uses machine learning to identify these elements in cancerous tissue, as well as in cell-free DNA (cfDNA) — fragments that are shed from tumors and float in the bloodstream. This new method could provide a noninvasive means of detecting cancers or monitoring response to therapy. Machine learning is a type of artificial intelligence that uses data and computer algorithms to perform complex tasks and accelerate research.

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As a new assistant professor at Sanford Burnham Prebys faculty, Sun seeks to better understand the genetic and epigenetic underpinnings of cancers, using genome editing technologies, animal and patient-derived models, and other tools to develop more effective cancer therapies.