In the largest genetic analysis of polycystic ovary syndrome to date, scientists have identified new variants linked to the condition, which could help us treat it more effectively
Category: genetics – Page 24
Scientists map DNA folding at single base-pair resolution in living cells
Scientists from Oxford’s Radcliffe Department of Medicine have achieved the most detailed view yet of how DNA folds and functions inside living cells, revealing the physical structures that control when and how genes are switched on.
Using a new technique called MCC ultra, the team mapped the human genome down to a single base pair, unlocking how genes are controlled, or, how the body decides which genes to turn on or off at the right time, in the right cells. This breakthrough gives scientists a powerful new way to understand how genetic differences lead to disease and opens up fresh routes for drug discovery.
“For the first time, we can see how the genome’s control switches are physically arranged inside cells, said Professor James Davies, lead author of the study published in the journal Cell titled ” Mapping chromatin structure at base-pair resolution unveils a unified model of cis-regulatory element interactions.”
Novel Therapy Developed for Aggressive Melanoma Subtype
Neuroblastoma RAS viral oncogene homolog (NRAS)-mutant melanoma is an aggressive form of skin cancer that develops because of a RAS genetic mutation within the cells. It is a common mutation in melanoma and accounts for 15–20% of melanoma diagnoses. An individual has greater risk of melanoma when exposed to the sun for extended periods of time. Additionally, individuals may have family history of melanoma that would increase their risk. It is important to regularly visit the dermatologist to confirm pigmented or non-pigmented moles are not cancerous. To evaluate each mole doctor’s access the change in shape, color, size, and unusual growth as time progresses.
Melanoma, specifically the NRAS subtype, can grow rapidly and spread to other areas of the body. Symptoms may also include change in nail appearance, eye issues, and mouth sores. While dependent on the stage of cancer, treatment usually includes drugs that target the NRAS pathway. Immunotherapeutic approaches include a checkpoint inhibitor treatment that activates immune cell response. Other forms of treatment include surgery and combination therapy. Scientists are working to learn more about NRAS melanoma and how to develop better treatments. Recent work has shown particular promise of treating NRAS melanoma in the lab and clinic.
A recent article in Cancer Immunology Research, by Dr. Keiran Smalley and others, demonstrated that blocking the RAS pathway in NRAS-mutated melanoma cells limit tumor growth and expansion. Smalley is a Professor and Scientific Director in the Donald A. Adam Comprehensive Melanoma Research Center of Excellence at Moffitt Cancer Center. His work focuses on understanding melanoma and the immune response after therapeutic treatment. In addition, Smalley is interested in using computational biology and other techniques to not only assess therapeutic benefit but develop novel treatments specific to mutated melanoma cells.
A genetic switch lets plants accept nitrogen-fixing bacteria
Researchers are one step closer to understanding how some plants survive without nitrogen. Their work could eventually reduce the need for artificial fertilizer in crops such as wheat, maize, or rice.
“We are one step closer to greener and climate-friendlier food production,” say Kasper Røjkjær Andersen and Simona Radutoiu, both professors of molecular biology at Aarhus University. The findings are published in the journal Nature.
The two researchers led a new study where they discovered an important key to understanding how we can reduce agriculture’s need for artificial fertilizer.
We doubled human lifespans in the last 200 years. Can we do it again? | Andrew Steele
“Over the last 10 or 15 years, scientists have really started to understand the fundamental underlying biology of the aging process. And they broke this down into 12 hallmarks of aging.”
Up next, Why 2025 is the single most pivotal year in our lifetime | Peter Leyden ► • Why 2025 is the single most pivotal year i…
We track age by the number of birthdays we’ve had, but scientists are arguing that our cells tell a different, more truthful story. Our biological age reveals how our bodies are actually aging, from our muscle strength to the condition of our DNA.
The gap between these two numbers may hold the key to treating aging – which could help save 100,000 lives per day and win us $38 trillion dollars.
00:00 Rethinking longevity.
01:27 Understanding aging.
02:58 Biological age and epigenetics.
04:29 New frontiers in longevity science.
08:04 Future possibilities and ethical questions.
10:24 The moral debate around living longer.
AI tool uncovers genetic blueprint of the brain’s largest communication bridge
For the first time, a research team led by the Mark and Mary Stevens Neuroimaging and Informatics Institute (Stevens INI) at the Keck School of Medicine of USC has mapped the genetic architecture of a crucial part of the human brain known as the corpus callosum—the thick band of nerve fibers that connects the brain’s left and right hemispheres. The findings open new pathways for discoveries about mental illness, neurological disorders and other diseases related to defects in this part of the brain.
The corpus callosum is critical for nearly everything the brain does, from coordinating the movement of our limbs in sync to integrating sights and sounds, to higher-order thinking and decision-making. Abnormalities in its shape and size have long been linked to disorders such as ADHD, bipolar disorder, and Parkinson’s disease. Until now, the genetic underpinnings of this vital structure had remained largely unknown.
In the new study, published in Nature Communications, the team analyzed brain scans and genetic data from over 50,000 people, ranging from childhood to late adulthood, with the help of a new tool the team created that leverages artificial intelligence.
Hair-thin fiber can control thousands of brain neurons simultaneously
Fiber-optic technology revolutionized the telecommunications industry and may soon do the same for brain research.
A group of researchers from Washington University in St. Louis in both the McKelvey School of Engineering and WashU Medicine have created a new kind of fiber-optic device to manipulate neural activity deep in the brain. The device, called PRIME (Panoramically Reconfigurable IlluMinativE) fiber, delivers multi-site, reconfigurable optical stimulation through a single, hair-thin implant.
“By combining fiber-based techniques with optogenetics, we can achieve deep-brain stimulation at unprecedented scale,” said Song Hu, a professor of biomedical engineering at McKelvey Engineering, who collaborated with the laboratory of Adam Kepecs, a professor of neuroscience and of psychiatry at WashU Medicine.
Viral Appropriation of Specificity Protein 1 (Sp1): The Role of Sp1 in Human Retro- and DNA Viruses in Promoter Activation and Beyond
Specificity protein 1 (Sp1) is a highly ubiquitous transcription factor and one employed by numerous viruses to complete their life cycles. In this review, we start by summarizing the relationships between Sp1 function, DNA binding, and structural motifs. We then describe the role Sp1 plays in transcriptional activation of seven viral families, composed of human retro- and DNA viruses, with a focus on key promoter regions. Additionally, we discuss pathways in common across multiple viruses, highlighting the importance of the cell regulatory role of Sp1. We also describe Sp1-related epigenetic and protein post-translational modifications during viral infection and how they relate to Sp1 binding. Finally, with these insights in mind, we comment on the potential for Sp1-targeting therapies, such as repurposing drugs currently in use in the anti-cancer realm, and what limitations such agents would have as antivirals.
Automated chloroplast screening platform speeds up crop trait development
Chloroplasts—the “light power plants” of plant cells—are increasingly the focus of synthetic biology. These organelles house the photosynthetic apparatus and host several metabolic pathways that are of great interest for engineering new traits. Gene insertion into chloroplasts is precise and carries a lower risk of transgene escape.
Despite this potential, chloroplast biotechnology remains in its infancy because standardized, scalable methods for rapid testing of diverse genetic parts have been missing. A research team from the Max Planck Institute for Terrestrial Microbiology in Marburg has now presented a micro‑algal platform that allows automated, fast, and large‑scale testing of chloroplast genetic modifications.
The study is published in the journal Nature Plants.