Kidney Research UK’s Post

Precision medicine is increasingly becoming a part of routine healthcare! But in order for people to make informed decisions about genomics testing and research for their health, it’s crucial for people to be familiar with basic genetics and genomics concepts.   That’s why Chris Gunter, an investigator in our Social and Behavioral Research Branch, works with her team to understand how well genetics knowledge is being communicated to the public. They’re also studying how knowledge about genomics concepts in different populations has changed over time.   “As geneticists, we can talk about wanting to make genetics useful in everyday life but if we don’t ensure that non-geneticists understand the value and uses of genetics, then we will never succeed.” - Dr. Chris Gunter.   Read more about this research and the importance of genetic literacy: https://lnkd.in/e2_t4Ne3

DID YOU KNOW: About 10% of people over 65 years old get diagnosed with Alzheimer’s disease, but research shows that for a large family in Antioquia, Colombia, the rate is much higher! Thousands of people in this family developed early-onset Alzheimer’s Disease because of a genetic variant. Those who inherited it started developing dementia at around 49 years old. A new study showed other genetic factors that might influence the age of onset in this family. Using DNA samples from 340 affected individuals, researchers compared their genetic data to other groups with different forms of Alzheimer’s Disease. They found 13 genetic variants linked to differences in when symptoms start. This research opens new paths for understanding the genetic mechanisms of Alzheimer’s & potential treatment strategies. Want to learn more about these genetic discoveries? Check out our Educational Outreach Annual Guidebook! Download now and dive into the world of Alzheimer's research (page 15): https://lnkd.in/gpMj-aNS #research #annual #guidebook #DNA

Advancing Global Healthcare: A Breakthrough in Genetic Research 🌐 Scientists stress the significance of studying genetic diversity across the globe. This approach paves the way for more inclusive and personalized healthcare solutions. 🌍🧬 #HealthInnovation #GeneticDiversity #ResearchImpact

#DNA | 𝗨𝗻𝗿𝗮𝘃𝗲𝗹𝗶𝗻𝗴 𝗔𝗻𝗰𝗶𝗲𝗻𝘁 𝗚𝗲𝗻𝗲𝘁𝗶𝗰 𝗣𝗮𝗿𝗮𝘀𝗶𝘁𝗲𝘀 𝗶𝗻 𝘁𝗵𝗲 𝗛𝘂𝗺𝗮𝗻 𝗚𝗲𝗻𝗼𝗺𝗲 | Led by Prof. Dr. Didier Trono, a team of scientists at EPFL (École polytechnique fédérale de Lausanne), made a groundbreaking revelation within the understanding of our genetic past. Their research, with resounding implications and possible applications, uncovers ancient genetic parasites within transposable elements (TEs) of the human genome. The methodological innovation behind this discovery involved reconstructing ancestral genomes in order to identify previously undetectable degenerate TEs. This papers the way for a deeper appreciation of evolutionary history and functional importance of these elements in our DNA. The potential for applications spans from diagnosing and treating cancer, autoimmune disorders, to metabolic anomalies and evaluating the body's response to environmental stressors and aging. Backed by the European Research Council (ERC), SNSF Swiss National Science Foundation, EMBO, and JSPS Overseas Research Fellowship, this novel exploration promises to impact therapeutic approaches and our comprehension of genetic influence on human diseases. 👉 Learn more >> https://lnkd.in/gt3eQ7i6 👉 Original publication >> https://lnkd.in/g3fEmWJf 🇨🇭 Follow #ScienceSwitzerland for the latest breakthrough news and emerging trends in Swiss science, technology, education, and innovation >> www.swissinnovation.org Follow us >> Science-Switzerland #Science | #Education | #Research | #Innovation

I am excited to share my recent publication in IEEE! 🚀 The paper has made significant strides in identifying pathogenic genetic variants thanks to advancements in genomic data analysis and innovative tools. My research leverages machine learning (ML) to efficiently identify disease genetic variables. We can analyze the relationship between phenotypic traits and disease genes, revealing common genetic origins of various diseases. This approach uncovers intricate patterns and associations in extensive genomic datasets that traditional methods might miss. ML revolutionizes disease etiology, enabling us to identify causal factors in human illnesses. Check out the full paper here:

The newest member of our bioinformatics team, Alok Kumar Maity, developed ELVAR during his postdoctoral research. ELVAR is a novel approach to single-cell RNA-seq analysis, which employs cell-attribute-aware clustering and enables accurate detection of cell-type composition changes. ELVAR can denoise single-cell data, avoid the need for batch correction and help retrieve more robust cell states for subsequent differential abundance testing. ELVAR improved the sensitivity to detect cell-type composition shifts when tested on aging, precancerous states and Covid-19 phenotypes. ELVAR is an open source R package, available at https://lnkd.in/evemc4-7 . #Solvuu #SingleCell #RNAseq #Aging #COVID19 #AlgorithmDevelopment #R

Geneticists and genomicists have made great strides, overcoming many obstacles to advance their fields. Many of these obstacles center around experimental challenges, whether technical complexities, improving precision, or ensuring reproducibility. High-quality reagents such as ultrapure water are essential to the reliability and integrity of research outcomes. Ultrapure water, in particular, is used extensively across a variety of methodologies, including sample, media, and RNA preparation. Read this article from ELGA LabWater to explore the role of ultrapure water in genetic and genomic research, and how its use can help researchers sidestep potential obstacles. #AD https://ow.ly/uerL50Sc5RS

In the realm of life sciences and genetics, individuals often find themselves on unique journeys that intersect with significant advancements shaping the fields of science and medicine. Zhang Guocheng embarked on a career that took himself into the world of science and genomics and eventually led him to the #BGI Group, as a Deputy General Manager of BGI Genomics at present. By exploring his story, we discover a narrative of dedication, innovation, and a deep commitment to the belief that genomics technology can have a significant impact on improving people’s lives. Read: https://bit.ly/3RBzbUh

🎉 India's Milestone Achievement in Genomics 🎉 Human genome sequencing is more than just mapping out DNA; it's about unlocking the code of life itself. This process allows scientists to dive deep into the genetic instructions that make up a human being, offering insights into how genes interact, influence our health, and are passed down through generations. India's achievement in sequencing 10,000 human genomes is a monumental step forward in the global endeavor to understand human genetics. It not only contributes to a global understanding but also emphasizes the need for a India-specific genetic database to address unique healthcare challenges. This accomplishment is a beacon of hope for personalized medicine, promising a future where treatments and medications are tailored to the genetic makeup of individuals, minimizing risks and maximizing efficacy. Let's applaud the researchers and everyone involved in the Genome India project for their dedication and hard work. Here's to more breakthroughs and advancements in the field of genomics! #GenomeIndia #HumanGenomeSequencing #personalizedmedicine #genomics #healthcareinnovations #cellandgenetherapy https://lnkd.in/gZPMxCzK

Genomics breakthrough: New method learns from unlabeled data. . . Researchers have developed a new self-supervised learning method that can improve the training of genomic models with less labeled data. The method, called Self-GenomeNet, leverages reverse-complement sequences and effectively learns short- and long-term dependencies by predicting targets of different lengths. Self-GenomeNet outperforms other self-supervised methods in data-scarce genomic tasks and outperforms standard supervised training with ~10 times fewer labeled training data. Furthermore, the learned representations generalize well to new datasets and tasks. These findings suggest that Self-GenomeNet is well suited for large-scale, unlabeled genomic datasets and could substantially improve the performance of genomic models. #science #research #genomics #SelfSupervisedLearning #bioinformatics #healthcare #Reseaprojournals