Feature Channels: Genetics

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Although autism is a common neurodevelopmental disorder, the multiple factors behind its onset are still not fully understood.

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The trial, which concluded in 2021, found that 133 hemophilia patients treated weekly with injections of efanesoctocog alfafor a year improved their outcomes and quality of life compared to their previous treatment.

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A Michigan Medicine study has identified a new potential target for treating osteoarthritis – a debilitating joint disease that affects over 31 million Americans and is a leading cause of disability worldwide.

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New insights into the effects of a hormonal treatment for transgender men, discovered by Cedars-Sinai investigators, could have implications for the treatment of breast cancer.

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The faba bean genome, which at 13 billion bases is more than four times the size of the human genome, has been sequenced for the first time and is published today (08 March 2023), in Nature.

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Read how researchers discovered genetic markers that hinder pancreatic cancer treatment and mutations that increase sarcoma risk. Then learn how artificial intelligence is helping predict prostate cancer outcomes and see how a new clinical trial looks at less-invasive breast cancer treatments. Finally, find out how a new grant could help veterans get the cancer care they need.

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Two proteins come together to protect and stabilize RNA as it carries muscle-forming code through the cell.

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The new partnership aims to accelerate an innovative heart-failure gene therapy. The agreement is an exclusive world-wide license and includes a sponsored research program to support future FDA filings.

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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.

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A team of researchers has discovered a potential therapeutic that can synergize with existing drugs to more effectively kill certain leukemia cells. The authors published their results on Jan. 19 in the journal Molecular & Cellular Proteomics.

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Researchers have begun to explore the underlying neural activity of eating behaviours in fruit flies to better understand the motives that drive feeding.

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UC San Diego researchers delve deep into the unknown cause of pediatric acute myeloid leukemia to identify a gene splicing dysregulation and potential target for treating the disease, which often becomes treatment-resistant.

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The same genetics that helped some of our ancestors fight the plague is still likely to be at work in our bodies today, potentially providing some of the population with extra protection against respiratory diseases such as COVID-19. However, there is a trade-off, where this same variation is also linked to increased autoimmune diseases such as rheumatoid arthritis and inflammatory bowel disease.

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Will AI drive the next biomedical revolution? Why is RNA so powerful? What can we learn from studying bias? You’ll get the answers to these questions and more at Discover BMB, the annual meeting of the American Society for Biochemistry and Molecular Biology, to be held March 25–28 in Seattle.

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Differences in genes involved in inflammation, immunity response and neural transmissions begin in childhood and evolve across the lifespan in brains of people with autism, a UC Davis MIND Institute has found.

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Research led by Washington University School of Medicine in St. Louis has identified a possible treatment strategy for a rare bone marrow failure syndrome that is named poikiloderma with neutropenia. The work also may have implications for treating other bone marrow failure syndromes with similar underlying dysfunctions.

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Adding evidence to the importance of early development, a new study links neutral maternal behavior toward infants with an epigenetic change in children related to stress response.

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CHLA researchers launched a liquid biopsy blood test to detect and differentiate between various pediatric cancers less invasively than a tissue biopsy.

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Epigenetic changes in the regulation of a key gene in the body’s stress response system were detected in babies and young children with abusive injuries, as opposed to accidental, according to a pilot study published in the journal Pediatric Research.

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By inspecting the body’s immune response at a molecular level, a research team has developed a new way to test patients for COVID-19.

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Dario Marchetti, PhD, and his team at the UNM Comprehensive Cancer Center found the same common genomic signature in the circulating tumor cells taken from the mice and from the people with melanoma brain metastases. And they found this signature in the circulating tumor cells that were injected in the mice, as well as in cells isolated from a person with melanoma brain metastasis who was undergoing treatment.

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According to a new study from Rutgers Institute for Health, researchers may be able to predict cardiovascular disease in patients by using artificial intelligence to examine the genes in their DNA.

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Scientists know that TDP-43, which helps regulate processing of RNA, may be responsible for the death of nerve cells in ALS and frontotemporal dementia. And a study suggests that a common modification to RNA, a methylation event known as m6A, plays a pivotal role in TDP-43-related neurodegeneration in ALS. Through sequencing analysis, investigators showed that methylation strongly influences the binding of TDP-43 to its RNA targets. They also observed highly abundant RNA methylation in the end-stage tissues of patients with ALS.

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New research has uncovered a novel link between the Duchenne muscular dystrophy (DMD) gene and cancer.

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Although genetic mutations in BRCA1 or BRCA2 are associated with a younger onset of breast and ovarian cancer, women with these genetic mutations continue to face a high risk of cancer incidence after age 50, even if they have not been previously diagnosed with cancer.

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Let's say you needed to move an individual cell from one place to another. How would you do it? Maybe some special tweezers? A really tiny shovel?

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Vascular malformations (VMs), a group of rare genetic disorders that causes an abnormal formation of veins, arteries, capillaries, or lymphatic vessels at birth, can interfere with the duties of our circulatory system by causing blockages, poor drainage, and the formation of cysts and tangles.

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Her husband and their five children call Rosa Wernher "the Energizer bunny" because she is always on the go. For decades, not even her genetically inherited Marfan syndrome could keep her off her feet to prevent her from oil painting or from gliding down a ski slope--until it did.

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Humans and animals detect different stimuli such as light, sound, and odor through nerve cells, which then transmit the information to the brain.

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Although genetic mutations in BRCA1 or BRCA2 are associated with a younger onset of breast and ovarian cancer, women with these genetic mutations continue to face a high risk of cancer incidence after age 50, even if they have not been previously diagnosed with cancer.

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Life began on earth more than 3.5 billion years ago, but the history of humans and other vertebrates accounts for only a fraction of this timescale.

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The PKD Foundation recently recognized the University of Maryland School of Medicine’s (UMSOM) clinical center that treats polycystic kidney disease (PKD)with a highly prestigious “Center of Excellence” designation. The designation recognizes the center as a leader in providing multidisciplinary, comprehensive clinical services for families affected by autosomal dominant polycystic kidney disease (ADPKD), a hereditary condition. It is one of just 28 clinical centers in the U.S. to receive this recognition.

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RNAs are having a moment. The foundation of COVID-19 vaccines, they’ve made their way from biochemistry textbooks into popular magazines and everyday discussions.

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While COVID-19 may be transitioning from a “pandemic” to an “endemic” phase, it remains critically important to continue tracking the virus in real-time.

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Researchers from the Organoid group (former Clevers group, Hubrecht Institute) together with researchers from the Princess Máxima Center for pediatric oncology established novel human organoid models of fatty liver disease.

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UC San Francisco researchers have uncovered a surprising role for fibroblasts in the lungs in activating T cell inflammation that drives lung destruction in COPD exacerbation triggered by viral infection. They also identified a T cell subset that can be targeted to treat COPD exacerbations.

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University of Illinois scientists have found gene variants in deer associated with the animals’ susceptibility to Epizootic Hemorrhagic Disease.

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In a new study using mice, University of Maryland School of Medicine researchers were able to tease apart the molecular components involved in abdominal aneurysms to better understand how and why they form.

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When scientists disabled a single regulatory gene in a species of sea anemone, a stinging cell that shoots a venomous miniature harpoon for hunting and self-defense shifted to shoot a sticky thread that entangles prey instead, according to a new study.

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Archaeologists know that people have practiced cranial trephination, a medical procedure that involves cutting a hole in the skull, for thousands of years.