Articles tagged with Genomics
Comprehensive exploration of living organisms, biological systems, and life processes across all scales from molecules to ecosystems. Encompasses cutting-edge research in biology, genetics, molecular biology, ecology, biochemistry, microbiology, botany, zoology, evolutionary biology, genomics, and biotechnology. Investigates cellular mechanisms, organism development, genetic inheritance, biodiversity conservation, metabolic processes, protein synthesis, DNA sequencing, CRISPR gene editing, stem cell research, and the fundamental principles governing all forms of life on Earth.
Comprehensive medical research, clinical studies, and healthcare sciences focused on disease prevention, diagnosis, and treatment. Encompasses clinical medicine, public health, pharmacology, epidemiology, medical specialties, disease mechanisms, therapeutic interventions, healthcare innovation, precision medicine, telemedicine, medical devices, drug development, clinical trials, patient care, mental health, nutrition science, health policy, and the application of medical science to improve human health, wellbeing, and quality of life across diverse populations.
Comprehensive investigation of human society, behavior, relationships, and social structures through systematic research and analysis. Encompasses psychology, sociology, anthropology, economics, political science, linguistics, education, demography, communications, and social research methodologies. Examines human cognition, social interactions, cultural phenomena, economic systems, political institutions, language and communication, educational processes, population dynamics, and the complex social, cultural, economic, and political forces shaping human societies, communities, and civilizations throughout history and across the contemporary world.
Fundamental study of the non-living natural world, matter, energy, and physical phenomena governing the universe. Encompasses physics, chemistry, earth sciences, atmospheric sciences, oceanography, materials science, and the investigation of physical laws, chemical reactions, geological processes, climate systems, and planetary dynamics. Explores everything from subatomic particles and quantum mechanics to planetary systems and cosmic phenomena, including energy transformations, molecular interactions, elemental properties, weather patterns, tectonic activity, and the fundamental forces and principles underlying the physical nature of reality.
Practical application of scientific knowledge and engineering principles to solve real-world problems and develop innovative technologies. Encompasses all engineering disciplines, technology development, computer science, artificial intelligence, environmental sciences, agriculture, materials applications, energy systems, and industrial innovation. Bridges theoretical research with tangible solutions for infrastructure, manufacturing, computing, communications, transportation, construction, sustainable development, and emerging technologies that advance human capabilities, improve quality of life, and address societal challenges through scientific innovation and technological progress.
Study of the practice, culture, infrastructure, and social dimensions of science itself. Addresses how science is conducted, organized, communicated, and integrated into society. Encompasses research funding mechanisms, scientific publishing systems, peer review processes, academic ethics, science policy, research institutions, scientific collaboration networks, science education, career development, research programs, scientific methods, science communication, and the sociology of scientific discovery. Examines the human, institutional, and cultural aspects of scientific enterprise, knowledge production, and the translation of research into societal benefit.
Comprehensive study of the universe beyond Earth, encompassing celestial objects, cosmic phenomena, and space exploration. Includes astronomy, astrophysics, planetary science, cosmology, space physics, astrobiology, and space technology. Investigates stars, galaxies, planets, moons, asteroids, comets, black holes, nebulae, exoplanets, dark matter, dark energy, cosmic microwave background, stellar evolution, planetary formation, space weather, solar system dynamics, the search for extraterrestrial life, and humanity's efforts to explore, understand, and unlock the mysteries of the cosmos through observation, theory, and space missions.
Comprehensive examination of tools, techniques, methodologies, and approaches used across scientific disciplines to conduct research, collect data, and analyze results. Encompasses experimental procedures, analytical methods, measurement techniques, instrumentation, imaging technologies, spectroscopic methods, laboratory protocols, observational studies, statistical analysis, computational methods, data visualization, quality control, and methodological innovations. Addresses the practical techniques and theoretical frameworks enabling scientists to investigate phenomena, test hypotheses, gather evidence, ensure reproducibility, and generate reliable knowledge through systematic, rigorous investigation across all areas of scientific inquiry.
Study of abstract structures, patterns, quantities, relationships, and logical reasoning through pure and applied mathematical disciplines. Encompasses algebra, calculus, geometry, topology, number theory, analysis, discrete mathematics, mathematical logic, set theory, probability, statistics, and computational mathematics. Investigates mathematical structures, theorems, proofs, algorithms, functions, equations, and the rigorous logical frameworks underlying quantitative reasoning. Provides the foundational language and tools for all scientific fields, enabling precise description of natural phenomena, modeling of complex systems, and the development of technologies across physics, engineering, computer science, economics, and all quantitative sciences.
Researchers developed a mathematical model to predict crop performance and quality, accelerating the process of creating new plant varieties. The model was applied to soybeans and analyzed key traits such as plant height, seed yield, and oil content.
A new Hastings Center special report critiques the role of genomics in perpetuating racism and inequality. The report argues that genomic knowledge can thwart medicine's advancement of justice and create new forms of social classification and surveillance.
A landmark 10-article collection clarifies oak evolution from deep roots to recent adaptations, identifying key genes involved in resistance to pathogens and genomic evidence for 56 million years of oak evolution. The study provides valuable insights into tree biology, particularly in response to rapid environmental change.
A new study proposes a method to extend polygenic scores for individuals with multiple ancestral origins, improving personalized medicine for recently admixed populations. The approach combines knowledge from homogeneous populations to create a model suitable for diverse genetic backgrounds.
The ACMG Foundation/PerkinElmer Diagnostics Travel Award recognizes Dr. Kuntal Sen and Dr. Shagun Kaur's innovative primary care clinic initiative, which aims to provide dedicated care for children with genetic disorders.
A vaccine for Lassa fever, a hemorrhagic disease causing up to 6,000 deaths annually, is set to enter human clinical trials. The measles platform-based vaccine demonstrated the best protection against the virus in preclinical tests.
The Genomics Research and Innovation Network (GRIN) will expand its data-sharing collaboration to new institutions using a multi-year federal grant. The goal is to create a larger 'federation' of medical centers equipped to share genomic information while protecting patient privacy.
A survey of 1,718 individuals from 69 countries found Hispanic and Latinx people willing to participate in genomics research studies, but with notable differences when segmented by country of birth and residence. Researchers emphasize the need for diversity in genetics research, including community-oriented approaches and cultural rele...
Researchers detected a large unreported Zika outbreak in Cuba during 2017, using virus genomics and travel patterns to identify the outbreak. The study suggests that effective mosquito control campaigns can delay outbreaks, emphasizing the need for alternative detection methods when local case reporting is limited.
The SING workshop brings together Indigenous and non-Indigenous scientists to discuss genomic tools and their social and political ramifications. Participants learn about the limitations of genomics research and its applications in health and environmental policy.
FutureNeuro researchers integrated genomics data into the Irish National Epilepsy Electronic Patient Record system, enabling personalized treatment plans for individuals with unknown cause epilepsy. The new system facilitates multidisciplinary meetings and review of genomic test results to determine genetic causes, leading to better di...
Researchers discovered a blood signature predicting type 1 diabetes before its onset, enabling early identification of high-risk children. The study, led by the University of Turku, could lead to disease prevention.
A new test may improve the accuracy of selecting healthy embryos for IVF by analyzing DNA leaked from human blastocysts. The test, known as niPGT-A, outperformed current PGT-A methods with a lower false positive rate.
A new blueprint for animal genomics research prioritizes improvements in efficiency, livestock welfare and production to meet the demands of a growing global population. The research focuses on using genomic technology to predict how environmental variation and management practices affect production.
A new project at the Carl R. Woese Institute for Genomic Biology aims to discover a thousand new ribosomally synthesized and post-translationally modified peptides (RiPPs) using synthetic biology and automation. The project uses an automated robotic system, called iBioFAB, to identify new RiPPs and create new molecules.
Dr. Samuel Huang receives the Pfizer/ACMG Foundation Clinical Genetics Combined Residency Fellowship Award to enhance his clinical research training and expertise in biochemical genetics and therapeutics. He aims to improve patient care through translational genomics and policy changes.
The ACMG Foundation has recognized six next-generation fellows with the Takeda/ACMG Foundation Genetics and Genomics Residency Fellowship Program. Dr. Elizabeth Jalazo will focus on pediatric genetics, while Dr. Joshua Baker will work on lysosomal storage disorders research.
Researchers track Aedes aegypti's evolution and spread using genomic techniques, revealing its historical traversal of slave trade routes and beyond. The study provides insights into the domesticated mosquito species' role in spreading diseases like yellow fever, dengue, and Zika.
Researchers at the University of California - Davis are working to improve chicken breeds with enhanced resistance to Newcastle disease and heat stress through genomic analysis. The Feed the Future Innovation Lab for Genomics to Improve Poultry aims to protect chickens from deadly diseases in Africa and worldwide.
A new study by Ludwine Messiaen extends clinical manifestations of the three-base pair deletion p.Met992del in NF1, revealing mild symptoms but potential complications. The research expands on findings first reported in 2007, providing insight into a genotype-phenotype correlation that will aid families and clinicians.
James R. Lupski, MD, PhD, receives the Victor A. McKusick Leadership Award for fostering and enriching human genetics development, as well as its integration into science, medicine, and health. Dr. Lupski's research focuses on understanding mutational mechanisms and linking specific mutations to human disease.
Researchers at Marshall University identified GPR68 as a target for studying T cell activation and pro-inflammatory functions. The study found that blocking the GPR68 pathway may be a potential therapy for chronic inflammatory diseases.
Jan M. Friedman, a Professor of Medical Genetics at the University of British Columbia, is receiving the Arno Motulsky-Barton Childs Award for his exceptional contributions to human genetics education globally. He has produced influential work on clinical genetics education and has led efforts to increase its presence in medical schools.
A challenge to Canada's Genetic Non-Discrimination Act could lead to widespread genetic discrimination if the law is overturned. The act protects genetic test information from being required in contracts or by employers and insurers.
The ACMG Foundation for Genetic and Genomic Medicine announced four recipients of the 2018 Shire/ACMG Foundation Next Generation Fellowship Awards. These awards provide funding for clinical genetics and genomics residency fellowships as well as medical biochemical genetics specialty fellowships, supporting training in medical genetics.
The Pfizer/ACMG Foundation has awarded Amanda Freed, M.D. and Kim Ng, M.D., a two-year fellowship to pursue clinical research training in biochemical genetics and genomics. The recipients will receive $75,000 per year for their residency training.
Researchers at CRG discover a mechanism regulating alpha-synuclein protein linked to Parkinson's disease and multiple system atrophy (MSA). Two factors, TIAR and ELAVL1, are deemed crucial in neurodegeneration, offering potential biomarkers for early detection and new treatment targets.
The NSF-funded Center for the Physics of Biological Function aims to bridge the gap between physics and biology by facilitating collaboration among theorists and experimentalists. The center will host a summer school for advanced undergraduates to introduce them to the field.
The development of enhanced single cell genomics techniques by Bigelow Laboratory has revolutionized the study of microbes and their impact on the environment. These advancements have also led to increased accessibility and affordability for research and industrial communities.
A large study from the Psychiatric Genomics Consortium found that genetic influences play a role in PTSD risk after trauma, with strongest effects among women. The research also identified significant overlap between PTSD and other mental disorders like schizophrenia and bipolar disorder.
Allison Mitchell, MS, CGC, has received the ACMG Foundation Carolyn Mills Lovell Award for her work on clinical implementation of novel, preemptive pharmacogenomic testing for newborns. The award recognizes genetic counselors' expanding roles in genomic medicine and their contributions to patient care.
A new platform, Microreact, combines real-time global data sharing and visualization to track and understand outbreaks of diseases like Ebola and antibiotic-resistant microbes. This tool democratizes genomic data, allowing researchers and public health professionals to access and build upon each other's work.
A study published in Avian Research has confirmed the Hen Harrier and Northern Harrier as two distinct species using genomics and molecular phylogenetics. The classification will aid national conservation efforts, particularly for the European Hen Harrier under threat from grouse hunts.
A Northwestern University study found that female faculty are underrepresented in genomics, with unequal collaboration patterns and negative cultural milieus detected. The researchers found that women have as many collaborators as men but tend to return to the same collaborators less often.
A Northwestern University study found that female faculty in STEM disciplines, particularly genomics, face challenges in collaboration patterns and career advancement. Despite having similar collaborator numbers, females tend to return to the same collaborators less often than males.
Recent genomic study provides evidence that land bridges likely connected the Americas millions of years earlier than previously thought. Army ants were chosen for their unique biology, which allowed researchers to rule out aerial and aquatic dispersal when studying colonization of Central America.
A genomic study by University of Nevada, Reno researchers identifies a newly discovered bird species evolving with its food source in southern Idaho. The South Hills crossbill has evolved unique dependencies on the Rocky Mountain lodgepole pine tree over 6,000 years.
Aspirin has been found to have a molecular link that explains its ability to reduce the risk of both cardiovascular disease and colon cancer. The researchers discovered a gene regulatory protein that not only influences platelet function but also suppresses tumors in the colon.
The American College of Medical Genetics and Genomics has released an updated position statement on noninvasive prenatal screening for detection of fetal aneuploidy. The guidelines provide recommendations for obstetric care providers and patients regarding the use of noninvasive prenatal screening (NIPS) in prenatal practice.
The Scripps Research Institute has received a $20 million award to support a national precision medicine initiative, enrolling 350,000 participant-volunteers. The program aims to engage one million or more U.S. participants to improve disease prevention and treatment based on individual differences in lifestyle, environment, and genetics.
Researchers at Oak Ridge National Laboratory have isolated and cultured the elusive archaeon Nanopusillus acidilobi from a hot spring in Yellowstone National Park. This achievement provides valuable insights into the evolution and mechanisms of complex systems, and has significant implications for understanding microbial diversity.
The Pfizer/ACMG Foundation Clinical Genetics Combined Residency for Translational Genomic Scholars Fellowship Award supports training in biochemical genetics, lysosomal storage diseases, and therapeutics. The award grants $75,000 per year to two recipients selected by the ACMG Foundation.
Jessica Tenney, MD, wins the 2016 ACMG Foundation/PerkinElmer Diagnostics travel award for her poster presentation on acrofacial dysotosis. The award recognizes her scientific merit and supports the development of medical genetic researchers.
The ACMG Foundation has announced the inaugural recipient of the Carolyn Mills Lovell Award, presented to Stephanie Harris CGC for her poster presentation on hypertrophic cardiomyopathy research. The award aims to recognize genetic counselors' contributions to clinical genetics and includes a $1000 cash prize.
The Structure-guided Drug Discovery Coalition receives a $2 million grant to develop new medicines for tuberculosis, malaria, and other neglected diseases. Researchers aim to fast-track the discovery of new treatments for these conditions, which affect over a billion people worldwide.
The integration of whole-genome sequencing into newborn screening programs is a topic of debate among researchers. Key considerations include what information to report, impact on healthcare systems, mandatory vs voluntary participation, educating health professionals and parents, communicating results over time, ensuring treatment and...
A massive genomics study by Yale researchers found hundreds of mutations causing congenital heart disease, often affecting histone-modifying genes. The study's findings suggest a wide range of common congenital diseases share common pathways.
The American College of Medical Genetics and Genomics has released a policy statement on noninvasive prenatal screening for fetal aneuploidy, highlighting its advantages and limitations. The statement recommends following up positive results with invasive diagnostic tests to avoid patient harm.
A new web-based teaching tool, Genomics Explorers, has been awarded the Science Prize for Inquiry-Based Instruction. The tool helps students formulate and explore their own research questions using genomic data sets, promoting real research experience and ownership of the process.
The Ontario Genomics Institute has launched a new education program to enhance genomics research commercialization. The 'Leaders in the Lab' program aims to equip scientists with business skills and knowledge necessary to respond to market opportunities for Genomics research.
Jacqueline Ross, a Markham teacher with 17 years of experience, has developed a unique laboratory-based biotechnology course that combines theoretical learning with practical application. The Ontario Genomics Institute Genomics Teaching Prize recognizes her innovative approach to teaching genomics and its societal implications.
Dr. Andrei Yudin's innovative process makes linear peptides circular, increasing their stability and ability to enter cells effectively. A library of macrocycles will be built to test properties and identify potential therapeutic compounds.
The USDA and DOE have awarded grants to spur research into improving the efficiency of growing biofuel crops, including switchgrass, poplar, and Miscanthus. The goal is to develop more resilient crops that can thrive in challenging environments, reducing competition with food production.
The partnership aims to enhance Taverna's commercial support, benefiting users and developers. Researchers can now access high-quality workflow tools without financial constraints.
Nine Plant Feedstocks Genomics for Bioenergy awards have been given to ASPB members, who will explore ways to enhance productivity, yield and sustainability of plants as sources of biofuels. Researchers will investigate the role of microRNAs, small RNA molecules and genetic diversity in improving bioenergy crops.
A research program developed by ASU aims to create a system that can rapidly measure an individual's level of radiation exposure. The system will enable faster medical triage and analysis of 2,000 blood samples per day. It is designed for field deployment and collaboration with government entities.
The U.S. Department of Education has awarded Kansas State University a $783,000 grant to support a new graduate fellowship training program in ecology, evolution, and genomics. The program aims to train seven graduate fellows in integrative learning and training across the disciplines of ecology, evolution, and genomics.
Researchers have developed a high-throughput protein pipeline that can analyze 40 proteins in weeks, compared to years with current techniques. This technique allows for the deciphering of extremophiles and better understanding of protein functions.
Dr. Huijing Xia, a postdoc at LSU Health Sciences Center New Orleans, has been awarded the American Physiological Society's Postdoctoral Fellowship in Physiological Genomics for her research on ACE2, an enzyme that regulates blood pressure. The two-year fellowship will cover $37,000/year in stipend and trainee allowance.
A group of UK scientists and social scientists highlight the need for integrated solutions to address the complex roles of plants in global systems. Key findings include the importance of balancing competing priorities for land use, energy production, and human well-being.