Andrea Anderson
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Edmonton
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Articles by Andrea Anderson
Liquid Biopsy-Based Score Picks up Early-Stage Pancreatic Cancer in Study
NEW YORK â A City of Hope-led research team has developed a liquid biopsy-based composite score to detect early-stage pancreatic ductal adenocarcinoma (PDAC), including an advanced precancerous condition known as high-grade dysplasia.
Caloric Restriction Reduces Somatic Mutations in Mice
NEW YORK â New research in mice suggests that caloric restriction can help dial down the accumulation of somatic mutations across several organs and cell types.
Genetic Study of Obsessive-Compulsive, Chronic Tic Disorders Finds Large-Effect Risk Genes
NEW YORK – New research has linked obsessive-compulsive disorder (OCD) and chronic tic disorders (CTDs) to rare variants in dozens of genes, including several expressed in parts of the developing brain.
Dubai Program Finds Clinical Utility for Pediatric Rapid Whole-Genome Sequencing
NEW YORK – New research has revealed a relatively high diagnostic yield within a rapid whole-genome sequencing (rWGS) program aimed at critically ill infants and toddlers in Dubai, particularly among pediatric cases from consanguineous families. The work was outlined in a paper published in Nature Medicine on Monday.
Proteins Tied to Heart Failure, Adverse Social Determinants of Health in Blood Proteome Study
NEW YORK – Certain blood plasma proteins have been linked to both heart failure and adverse social determinants of health such as socioeconomic status or neighborhood disadvantage, which have been linked to heart failure and other forms of cardiovascular disease (CVD) risk in the past.
Icelandic Pangenome Reveals 'Hidden' Variants Tied to Disease Risk
NEW YORK – Researchers have produced a pangenome reference for the Icelandic population by mapping tens of thousands of Icelandic genomes to a reference, detecting new genetic variation and disease risk associations along the way. "This pangenome is part of a worldwide effort to overcome the lack of diversity and linear limitations of reference genomes such as GRCh38 and CHM13," Guillaume Holley, a researcher at Amgen Decode Genetics, said in an email.
Telomere-to-Telomere Consortium Shares Complete Diploid Genome, Diverse Species Assemblies
NEW YORK – A suite of new papers is offering a look at research performed by members of the Telomere-to-Telomere (T2T) Consortium, a group that launched nearly a decade ago to produce more complete genome sequences for humans and other species. The work builds on prior efforts to produce complete, gap-free versions of the human genome, including an X chromosome assembly described in a 2020 paper in Nature and a T2T-CHM13 human genome assembly produced from a hydatidiform mole sample.
Rare Gene Variants Linked to Metabolic Benefits, Cardiometabolic Disease Protection
NEW YORK – By tapping into common variant data and exome sequences for more than a million individuals at sites in North America, Europe, and Asia, an international research team has narrowed in on rare, energy metabolism-related variants in the FNIP1 gene that show promise for protecting against cardiometabolic conditions such as coronary artery disease (CAD) or type 2diabetes (T2D).
Ancient Variola Virus Genomes Provide Clues to Smallpox Introduction in Americas
NEW YORK – An international team used genome sequencing to assess ancient smallpox-causing variola virus (VARV) samples found at an Inca-associated archeological site in northern Chile, uncovering features consistent with European introduction of smallpox to the Americas during colonization.
Findings From Second Phase of NIH 4D Nucleome Program Spelled Out in New Publications
NEW YORK – Investigators working under the National Institutes of Health Common Fund's "4D Nucleome" (4DN) program have shared findings from a range of studies focused on spatial and temporal genome organization features found within and across human tissue types, including tissues affected by cardiac or neurodegenerative disease. The work, which represents the second phase of the 4DN effort, appeared in several papers published in Science and Science Advances on Thursday.
Treatment-Related Mutation Signatures Uncovered in Advanced Pediatric Cancer Samples
NEW YORK – An international team led by investigators at the Hospital for Sick Children (SickKids), the University of Toronto, and the University of California, San Diego has characterized treatment-related DNA mutations in advanced pediatric cancers, including those suspected of contributing to disease resistance, relapse, or progression.
Treatment-Related Mutation Signatures Uncovered in Advanced Pediatric Cancer Samples
NEW YORK – An international team led by investigators at the Hospital for Sick Children (SickKids), the University of Toronto, and the University of California, San Diego has characterized treatment-related DNA mutations in advanced pediatric cancers, including those suspected of contributing to disease resistance, relapse, or progression.
Pilot Project Informs Premarital Genetic Screening Efforts in Abu Dhabi
NEW YORK – Investigators with Abu Dhabi's Department of Health and other centers in the United Arab Emirates (UAE) have demonstrated the feasibility of offering premarital genetic screening for rare inherited, autosomal recessive conditions at clinics in the UAE capital city.
Coronary Heart Disease Risk Has Independent Polygenic, Family History Components
NEW YORK – New research suggests polygenic risk scores and family history may offer independent, additive information about individuals' likelihood of developing coronary heart disease (CHD). "Family history and polygenic risk are not redundant," Iftikhar Kullo, a researcher at the Medical College of Wisconsin who led the project, said in an email. "Each tells you something the other misses, and their effects add up," he explained.
Multiomic Study Reveals Pig Xenograft-Host Interactions in Liver Support Model
NEW YORK – A team led by investigators at New York University has traced molecular interactions between genetically modified pig liver xenografts and deceased patients receiving temporary liver support through a process known as extracorporeal liver cross-circulation (ELC).
Hereditary Cancer Cascade Testing 'Underused' in Certain Demographic Groups
NEW YORK – New research suggests there is a ways to go in achieving significant levels of cascade testing in family members of individuals carrying germline genetic variants implicated in hereditary cancer risk.
Pakistan Genome Resource Reveals Population Diversity, Homozygous Loss-of-Function Variant Effects
NEW YORK – An international team led by investigators in Pakistan and the US has put together a Pakistan Genome Resource (PGR), linking specific traits or conditions to genotypes found in the population genomic resource, including homozygous loss-of-function in thousands of genes.
HPV Sequencing Liquid Biopsy Test Detects MRD Early in Head and Neck Cancer Patients
NEW YORK – An ultra-sensitive blood test based on human papillomavirus (HPV) sequencing can detect minimal residual disease (MRD) in individuals treated for HPV-positive head and neck cancer (HNC), according to a new study.
HPV Sequencing Liquid Biopsy Test Detects MRD Early in Head and Neck Cancer Patients
NEW YORK – An ultra-sensitive blood test based on human papillomavirus (HPV) sequencing can detect minimal residual disease (MRD) in individuals treated for HPV-positive head and neck cancer (HNC), according to a new study.
Meningioma Single-Cell Atlas Points to Informative Tumor, Microenvironment Cell States
NEW YORK – New research has uncovered distinct cell states contributing to tumor progression, complexity, and tumor microenvironment features in meningioma, a common primary brain tumor type with a range of clinical outcomes.
GWAS Meta-Analysis Offers Clues to Architecture of Alzheimer's Disease, Related Dementias
NEW YORK – An international research team has narrowed in on dozens of new and known contributors to Alzheimer's disease (AD) through a large genome-wide association study and meta-analysis that included heterogeneous cases of AD and related dementias. As they reported in Nature Genetics on Wednesday, the researchers' GWAS encompassed not only clinically diagnosed AD cases, but also "proxy" cases of AD-related dementia (ADRD) involving individuals with one or more affected parent or sibling.
Cell Biology Insights Informed by Single-Cell Transcriptomic Generative Foundation Models
NEW YORK – A California research team has come up with a collection of generative foundation models for analyzing single-cell transcriptomics to classify cell types, tease out cellular relationships, and retrace developmental trajectories across species over large stretches of time. The strategy was spelled out in a study published in Science on Thursday.
Genotype-Guided SSRI Prescription Approach Leads to Increased Depression Remission at Six Months
NEW YORK – New research suggests pharmacogenetics-informed prescriptions for selective serotonin reuptake inhibitors (SSRIs) can improve remission rates for individuals with depression by the six-month mark, despite outcomes on par with usual care strategies over the shorter term.
Endometriosis GWAS, Multiomics Study Across Ancestries Suggests New Treatments
NEW YORK – An international team has uncovered new genetic contributors to and pathways involved in endometriosis and has come up with existing drugs that may be helpful to treat the chronic, systemic inflammatory condition.
Hearing Improvements Maintained More Than Two Years After Deafness Gene Therapy in Chinese Trial
NEW YORK – A team led by investigators in Shanghai has demonstrated the long-term efficacy of a gene therapy for OTOF-related hearing loss, particularly in patients treated as children, individuals with better baseline cochlear and outer hair cell function, and those with specific OTOF gene mutations.
Study Explores Mismatch Between Newborn Screening Data, Genetics-Based Disease Prevalence Models
NEW YORK – A team of investigators from California-based biotech BioMarin Pharmaceutical has compared newborn screening (NBS) data to disease prevalence estimates based on the frequency of pathogenic variants for dozens of diseases and has found that the two do not perfectly align. The findings appeared in the American Journal of Human Genetics on Friday.
Long-Lived Chinese Cohort Marked by 'Youthful' Transcriptomes, Enhanced Mitochondrial Function
NEW YORK – New research in long-lived individuals from China shows they have distinct transcriptomics features, including enhanced expression of a handful of mitochondrial ribosomal protein-coding genes (mRPGs).
Glioma Markers Found in Multiomics Study of Plasma Small Extracellular Vesicles
NEW YORK – An international team led by investigators in China and the UK has identified glioma markers in small extracellular vesicles (sEVs) circulating in the blood, which could help with noninvasively diagnosing and monitoring the cancer.
Glioma Markers Found in Multiomics Study of Plasma Small Extracellular Vesicles
NEW YORK – An international team led by investigators in China and the UK has identified glioma markers in small extracellular vesicles (sEVs) circulating in the blood, which could help with noninvasively diagnosing and monitoring the cancer.
Autoimmune Thyroid Disease Study Finds Somatic Mutations in Immune Checkpoint Genes
NEW YORK – New research suggests that autoimmune thyroid conditions — and potentially other autoimmune diseases such as rheumatoid arthritis or type 1 diabetes — may arise from somatic driver mutations that converge on immune checkpoint genes in lymphocyte immune cells.
Ribosomal DNA Sequence Variation Associated With Complex Human Traits, Study Suggests
NEW YORK – New research suggests that variation in germline ribosomal DNA (rDNA) sequences share associations with some complex human traits that are independent of rDNA copy number, offering a previously unappreciated window into potential trait contributors.
23andMe Study Uncovers Genetic Contributors to GLP1 Drug Efficacy, Side Effects
NEW YORK – Investigators from the 23andMe Research Institute have identified genetic contributors to the weight loss effects or side effects associated with drugs that target the GLP1 receptors alone or in combination with gastric inhibitory polypeptide (GIP) hormone receptor targeting.
23andMe Study Uncovers Genetic Contributors to GLP1 Drug Efficacy, Side Effects
NEW YORK – Investigators from the 23andMe Research Institute have identified genetic contributors to the weight loss effects or side effects associated with drugs that target the GLP1 receptors alone or in combination with gastric inhibitory polypeptide (GIP) hormone receptor targeting.
Chinese Team Assembles More Than 1K Diploid Genomes for Pangenome Project
NEW YORK – Investigators in China have assembled and started characterizing a pangenome sequence spanning more than 1,000 diploid genome sequences for individuals in China, highlighting previously unappreciated sequences, variants, and regulatory features behind human traits or conditions.
ALS Exome Sequencing Study Underscores Role of Rare Germline Variant
NEW YORK – A team led by investigators at Utrecht University has identified rare protein-coding variants that increase the risk of amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative condition that is thought to involve rare low- to moderate-penetrance variants in the germline.
Ultrarare Variants Linked to Early-Onset Breast Cancer Using New Computational Method
NEW YORK – New research has focused in on ultra-rare variants that appear to predispose individuals from a range of ancestral backgrounds to breast cancer, including early-onset breast cancer.
Shared Autism Contributors Uncovered in Rare Variant Analyses of Admixed Individuals Across Americas
NEW YORK – By digging into rare, deleterious protein-coding variants found in individuals with autism spectrum disorder (ASD) from admixed and Latin American individuals across the Americas, researchers have demonstrated that the condition shares key biological features across ancestry groups.
Pan-Cancer Study Points to Subtype-Specific Driver Relationships, Effects
NEW YORK – A team led by investigators at Memorial Sloan Kettering Cancer Center has uncovered distinct cancer drivers, and functional consequences for those driver alterations, depending on the cancer type, subtype, and clinical context considered.
Ancient DNA Studies Push Dog Domestication Back to Last Ice Age
NEW YORK – Two independent research teams have demonstrated that domestic dogs were present at sites across western Eurasia during the Paleolithic, pushing back the estimated time for dog domestication to the end of the last Ice Age and providing a look at both human-dog relationships and interactions between distinct human populations around 16,000 years ago. "Dogs were the first domesticated animal.
Serial Cloning in Mammals Limited by Generational Mutation Accumulation, Birthrate Decline
NEW YORK – New research suggests DNA mutations arise and accumulate over time in re-cloned mice, limiting the number of generations that can be successfully generated through serial cloning in the mammalian model. For their study, published in Nature Communications on Tuesday, researchers in Japan used whole-genome sequencing to assess mice that were produced through serial cloning experiments stretching back more than two decades to January 2005.
eMERGE Studies Examine Implementation, Impact of Genome-Informed Risk Assessment
NEW YORK – New research from the "Electronic Medical Records and Genomics (eMERGE) network has revealed the feasibility of returning genome-informed risk assessments (GIRAs) to a large group of participants, while highlighting potential barriers to their return and strategies for understanding their clinical consequences.
Liquid Biopsy Shows Promise for Diagnosing Burkitt's Lymphoma in Resource-Limited Settings
NEW YORK – A team led by investigators in Tanzania and the UK has demonstrated the potential for using liquid biopsy to quickly diagnose Epstein-Barr virus (EBV)-associated Burkitt's lymphoma (BL) cases in children from resource-limited sites in sub-Saharan Africa, increasing the odds that this group can receive life-saving treatments in early stages of the disease. The findings appeared in Nature Medicine on Thursday.
Liquid Biopsy Shows Promise for Diagnosing Burkitt's Lymphoma in Resource-Limited Settings
NEW YORK – A team led by investigators in Tanzania and the UK has demonstrated the potential for using liquid biopsy to quickly diagnose Epstein-Barr virus (EBV)-associated Burkitt's lymphoma (BL) cases in children from resource-limited sites in sub-Saharan Africa, increasing the odds that this group can receive life-saving treatments in early stages of the disease.
Imaging, Multiomics Study Points to Chronic Traumatic Encephalopathy Risk Factors in Retired Athletes
NEW YORK – New research suggests that blood-brain barrier (BBB) disruption turns up in individuals at risk of developing chronic traumatic encephalopathy (CTE), along with inflammation and peripheral immune cell shifts. The results, published in Science Translational Medicine on Wednesday, suggest that it may eventually be possible to come up with markers or interventions for those at risk of CTE after experiencing repeated head trauma.
Frailty Blood Protein Signature Uncovered Using UK Biobank Samples
NEW YORK – An international team led by investigators in China and Sweden has identified blood proteins associated with frailty in aging individuals, pointing to potential frailty markers as well as age windows marked by accelerated changes in these proteins.
Diabetes, Obesity Prediction Improved With Polygenic Risk Scores Based on Multiple Metabolic Traits
NEW YORK – New research suggests that polygenic risk scores (PRS) developed using risk variant data for multiple metabolic traits may improve prediction for conditions such as type 2 diabetes (T2D) or obesity compared to single-disease PRS.
Faster Epigenetic Clock Linked to Increased Death Risk in Italian Aging Study
NEW YORK – A National Institutes of Health-led team has linked the acceleration of DNA methylation-based epigenetic clocks to morbidity and mortality in a longitudinal cohort comprised of aging Italian individuals.
Epigenetic Clock Acceleration Linked to Mortality in Longitudinal Italian Study
NEW YORK – A National Institutes of Health-led team has linked the acceleration of DNA methylation-based epigenetic clocks to morbidity and mortality in a longitudinal cohort comprised of aging Italian individuals.
Antibiotic Use Affects Gut Microbiome for Years, Metagenomic Study Finds
NEW YORK – By sequencing samples from nearly 15,000 adult participants in three Swedish population cohorts, an Uppsala University-led team has teased out the long-term gut microbiome effects of taking several different broad- or narrow-spectrum oral antibiotics. The findings appeared in Nature Medicine on Wednesday.
Gut Microbiome Consequences of Antibiotic Use Revealed in Metagenomic Sequencing Study
NEW YORK – By sequencing samples from nearly 15,000 adult participants in three Swedish population cohorts, an Uppsala University-led team has teased out the long-term gut microbiome effects of taking several different broad- or narrow-spectrum oral antibiotics. The findings appeared in Nature Medicine on Wednesday.
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