Articles tagged with Genomics
A study by EPFL researchers reveals that CTCF sites within the HoxD cluster contribute to organizing genes into topologically associated domains, helping to organize developmental complexity. The dual function of CTCF binding sites varies depending on tissue type.
A genomic study of the Tarim Basin mummies in western China found that they were direct descendants of a once widespread Pleistocene population known as Ancient North Eurasians. The mummies show no evidence of admixture with other Holocene groups, forming a previously unknown genetic isolate.
Researchers at Osaka University analyzed data from over 200 health-related traits and diseases in an Asian population to identify specific genomic loci related to medical indications. The study found 14,000 genomic loci of phenotypic significance, including 5,000 novel discoveries.
Researchers identify key neurons and signaling pathway regulating female activity before ovulation. Discoveries could lead to new treatments for menopause that sidestep estrogen and reactivates the circuit with CRISPRa technology.
A retrospective study demonstrates that AI-powered Fabric GEM algorithm can detect over 90% of disease-causing variants in infants with rare diseases using whole-genome and whole-exome data. The algorithm also ranks specific genes associated with these variants, assisting clinicians in diagnosis.
Researchers developed an integrated framework combining single-cell and metagenomics to characterize microbes. The approach showed higher accuracy and precise binning, revealing more bacterial genera and intra-species diversity.
A UCL-led research team has identified an anti-viral gene that increases the risk of both Alzheimer's disease and severe Covid-19. The study found that a specific variant of the OAS1 gene amplifies inflammation in the brain, highlighting the importance of the immune system in both conditions.
Researchers analyzed genetic expression profiles of developing brain cells, finding that early tissue holds a pre-set map that develops into the cerebral cortex's characteristic topography. A new method for predicting cell fate has also been established, using chromatin structure to determine lineage before gene expression is possible.
Researchers create detailed atlas of mouse cerebrum, revealing distinct cell types and gene regulatory elements. The study provides insights into brain organization and function, with potential implications for human neurological diseases and traits.
Researchers sequenced genomes of 90 Eastern massasauga rattlesnakes and found that potentially damaging gene mutations were less abundant. This suggests that inbreeding might not be as detrimental as theory predicts, as beneficial mutations can easily purge bad ones. The study's findings could influence management decisions.
Recent genome research has led to significant progress in understanding human evolution, cancer, polygenic traits, and functional genomics. New laws and technologies are also being developed to balance privacy and public safety, enabling the use of consumer genetic data in law enforcement investigations.
Researchers analyzed ancient DNA from victims of epidemics in Mexico and found evidence of newly introduced viruses, including smallpox, measles, and mumps. The study suggests that European colonists brought these viruses to North America, contributing to devastating epidemics among Indigenous communities.
A new study using Neanderthal fragments suggests that generation intervals have fluctuated over the past 40,000 years, with human life history changing in response to environmental and cultural factors. The research found that Eurasian populations reproduced at a younger age than those in Europe, indicating a difference of 3-5 years in...
A Mount Sinai study found that polygenic risk scores were no better at predicting worsening symptoms than written reports in schizophrenia patients. The results raise questions about the use of polygenic risk scores in real-world situations, suggesting a doctor's report may be an untapped source of predictive information.
Researchers discovered azole-resistant Aspergillus fumigatus strains isolated from a tulip bulb have genetic recombination and resistance to multiple fungicide classes. Plant bulbs serve as an ideal niche for the pathogens to evolve their resistance, posing a global health threat.
A recent study found that genetic risk scores can help diagnose epilepsy in individuals with a single seizure, distinguishing them from those with other causes. The researchers analyzed data from over 9,600 individuals with epilepsy-related diagnoses and found a significant correlation between genetic risk and epilepsy diagnosis.
A recent study found that a person's genetic risk for developing certain diseases decreases as they get older. The researchers analyzed genomic data from 500,000 people and discovered that genetic factors play a more significant role in disease development early in life.
A 7,000-year-old human skeleton from Sulawesi has provided new insights into ancient human relations. The genome analysis shows a connection to the first modern humans to reach Oceania and a mix of Denisovan and Asian genetic components.
A University of Houston researcher is using cutting-edge techniques to study how testosterone affects the brain and social behavior. Using genetically modified African cichlid fish, Beau Alward aims to identify the specific genes and neurons involved in these processes.
A new study generated 137 whole-genome sequences from eight Middle Eastern populations, filling a major gap in international genomic projects. The researchers found 4.8 million previously undiscovered genetic variants, which could hold medical relevance.
Researchers developed a machine learning tool, BoostDM, that evaluates the potential contribution of mutations in genes to cancer development. The tool helps understand how tumors are caused at the molecular level and can facilitate medical decisions regarding therapy.
Researchers found that Papua New Guinean highlanders have physical traits counteracting hypoxia, such as smaller height and waist, larger lung volume and chest depth, and higher haemoglobin concentration compared to lowlanders. These adaptations may be a result of living at altitude for 20,000 years.
The 62nd Supplement to the Check-list of North American Birds includes updates to the classification of continent's bird species. Species splits occur in Barred Owl, Mew Gull, and Sedge Wren, with key differences in vocalizations and genetics.
A study by Princeton and Mpala scholars found a significant increase in obesity, diabetes, and cardiovascular illnesses among Turkana people who shifted from an animal-based diet to one rich in carbohydrates. The researchers attributed this 'mismatch' between the diet and human evolution to the drastic change in lifestyle.
The ASHG 2020 Virtual Meeting brings together thousands of scientists, clinicians, and advocates to share knowledge on the latest developments in human genetics and genomics. The event features over 200 oral presentations, nearly 2,000 scientific poster presentations, and special sessions recognizing outstanding achievements.
A study by OU researchers reveals that climate warming increases homogeneous selection in soil bacterial community assembly, which is linked to changes in drought and plant productivity. The findings have important implications for predicting and mitigating ecological consequences of climate change.
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.
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.
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...
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 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.
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.
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 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.