Leroy Hubert, Jr., Ph.D., was awarded the David L. Rimoin Inspiring Excellence Award for his research on a novel diagnostic biomarker for Peroxisomal Biogenesis Disorder. The award recognizes his contributions to medical genetics and genomic medicine.
A new study published in JAMA Oncology found that female adolescent and young adult cancer survivors have a higher risk of adverse birth outcomes, including preterm birth and low-birth weight. The study also suggests an increased likelihood of cesarean births among this population.
A pilot study conducted by Thomas Jefferson University found that a virtual environment education program significantly reduced anxiety and increased comprehension in patients receiving radiation therapy. The program used simulated environments to teach patients about their treatment, resulting in improved confidence and satisfaction.
A recent European Society of Cardiology study found that cardiac lead extractions are safer in high-volume centers compared to low-volume centers. The study, which included data from over 3,500 patients, found that extraction in a low volume center was associated with a doubled risk of death during the hospital stay.
Researchers developed a custom-built microscope to study living nerve synapses, resolving events in the synapse with high precision. They found that the active zone is more like a rain shower than a single jet, with about 10 locations reused too often and a limit to how quickly these sites can be reused.
Sureni V. Mullegama received the ACMG Foundation/PerkinElmer Diagnostics Travel Award for her platform presentation on Diagnostic Utility of Clinical Exome Sequencing in Autism Spectrum Disorder. She is currently a second year ABMGG Clinical Molecular Genetics Fellow at UCLA.
A global 'carbon law' aims to halve carbon emissions every decade, peaking by 2020 and falling to zero by 2050. The roadmap also calls for rapid adoption of renewable energy, carbon removal technologies, and sustainable agriculture practices to achieve this goal.
The study found that freestanding emergency departments charge significantly higher prices than urgent care centers, with average costs ranging from $1,351 for common diagnoses to $2,199. This can lead to substantial out-of-pocket costs for patients and increased health care costs for insurers.
Experts call for improved surveillance, latest testing technology, and further research on glyphosate's impact on human health and the environment. The current safety standards may fail to protect public health and the environment from potential harm.
Researchers from Swansea University developed bespoke collars with accelerometers to track baboon behavior. The new technology allowed for precise tracking of the baboons' movements and behaviors, revealing over 90% recognition of individual behaviors without direct observation.
A new study describes the key mechanism in the brain that allows animals to recognize and react to subtle sensory signals. In a mouse model, detecting a faint screech or a tiny black speck can signal the presence of a hawk, highlighting the importance of multisensory integration.
Researchers at Stockholm University will receive prestigious ERC Advanced Grants for innovative projects tackling dark matter detection, social-ecological interactions, and the impact of social media on Chinese society. The grants support interdisciplinary approaches to tackle complex global challenges.
Researchers developed facial analysis technology to diagnose 22q11.2 deletion syndrome, a rare genetic disease affecting 1 in 3,000 to 1 in 6,000 children. The software correctly diagnosed the disease in 96.6% of cases across different ethnic groups.
Research found that nearly three-fourths of US remaining smokers have low socioeconomic status, including no college education, health insurance, or disability. These individuals face higher challenges in quitting smoking due to limited access to cessation-supporting services.
A new diagnostic model called Hierarchical Taxonomy of Psychopathology (HiTOP) aims to correct limitations of traditional models like DSM-5 by using a dimensional and hierarchical approach. This approach can lead to more meaningful decisions and advance research efforts into the causes and treatments of mental disorders.
Researchers developed a computer program to diagnose cancer and locate tumors in blood samples, with an accuracy rate of 80% for early-stage cancers. The program uses molecular patterns in cancer DNA to identify the type and location of cancer.
A new study from the University of South Carolina found a gastrointestinal link to Gulf War Illness, potentially explaining both gastrointestinal inflammation and neurological symptoms. The research suggests that altering the intestinal microbiota may lead to improved treatment options for GWI.
A new study from MU researchers has identified a protein that can be targeted to decrease post-heart attack injury and prevent heart failure in a mouse model. The research used ultrasound technology to deliver a protein inhibitor directly to the hearts of mice, resulting in a 72% decrease in heart damage compared to control groups.
A new analysis reveals that dialysis patients are being screened at a higher rate than their counterparts without kidney failure, with the healthiest patients being more likely to receive screening. The findings suggest that there is substantial over-screening among patients on dialysis, and physicians should carefully evaluate patient...
Researchers compare arm anthropometry measures to BMI to determine nutritional status in leukemia survivors. Arm measurements distinguish between fat and muscle mass, providing a valuable tool for assessing muscle loss.
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 mathematical model of Plasmodium falciparum's metabolism reveals its essential genes and thermodynamic bottlenecks, enabling potential mechanisms to target with drugs. The model integrates genetics and metabolomics data, allowing for the formulation of testable hypotheses and accelerating novel antimalarial drug discovery.
A team developed a new way to sequence genomes, assembling the Zika virus mosquito genome for less than $10,000. This allows for rapid creation of reference genomes for all species, including humans, tumors, and patients, enabling better diagnosis and treatment.
During the three-month campaign, scientists will validate GOES-16's advanced instruments using measurements from planes, ground-based sensors, unmanned aircraft systems, the International Space Station, and other sources. The goal is to ensure precise data for weather forecasting, severe storm warnings, and space weather predictions.
Dr. Tamanna Roshan Lal, a board-certified Pediatrician, received the $75,000 award to support her clinical genetics subspecialty training in biochemical genetics. The fellowship will provide advanced training in Clinical Biochemical Genetics and Lysosomal Storage Diseases.
Researchers found that antibiotics like trimethoprim induce a stress response in bacteria, protecting them from acidic damage. This cross-protection mechanism increases the survival chances of bacteria exposed to antibiotics and other environmental stresses.
Researchers from Baylor College of Medicine discovered that OTUD6B gene mutations cause a spectrum of physical and intellectual deficits. The study found 12 individuals carrying mutations in OTUD6B with similar clinical characteristics, including severe intellectual disability and cardiovascular problems.
Researchers at the University of British Columbia found dairy cows are highly motivated to be outside, working equally hard to access pasture as they do to fresh feed. The study's findings support previous research that public opinion of a good life for cattle involves outdoor grazing access.
A comprehensive review article explores cytokine regulation of fibroblast behavior and extracellular matrix in the lung, shedding light on chronic inflammation. The study highlights the role of metabolic changes, age, and epigenetic mechanisms in affecting fibroblast activity and immune system cell populations.
Researchers found that antibody production plays a limited role in clearing intestinal infection, and the immune response matures too slowly to fight off the bug within six weeks of age. Vaccines focusing on cell-mediated immunity or speeding up antibody production may offer promising solutions to controlling Campylobacter.
A new study by Johns Hopkins scientists reveals that nearly two-thirds of cancer mutations are caused by random DNA copying errors. The researchers developed a mathematical model based on DNA sequencing and epidemiologic data, estimating that 66% of cancer mutations result from copying errors.
Researchers at TUM have developed a method to construct custom DNA-protein hybrid structures using genetically encoded proteins and DNA. This approach allows for the creation of complex shapes and spatial arrangements that can be used to investigate fundamental processes in cell biology and biotechnology.
Michigan State University is using a $727,000 grant from the National Institutes of Health to study the connection between fish genes and human medicine. The team, led by Ingo Braasch, is focusing on the spotted gar, a fish with a similar genome to humans and zebrafish.
Scientists discovered a novel virus that weakens fungal incompatibility, allowing for transmission of unrelated viruses. This breakthrough could aid in controlling fungal diseases using viruses as a strategy.
The Benioff Ocean Initiative has committed $1.5 million to accelerate research on reducing ship strikes and mortality of whales. Researchers estimate that 10 blue whales are killed annually in the Santa Barbara Channel, threatening a species with only 3-11% of its historic population.
Astronomers discovered a supermassive black hole weighing over 1 billion suns that was propelled out of the center of a distant galaxy due to gravitational wave energy. The estimated equivalent energy is 100 million supernovas, and the black hole travels at speeds of up to 4.7 million miles per hour.
Researchers at Mass General Hospital identified novel resistance mechanisms in patients with liver tumors receiving FGFR inhibitor treatment. The study found that different mutations within individual patients and across multiple samples could confer resistance, highlighting the need for more effective treatments.
Climate change is altering silica uptake in sugar maple trees, potentially affecting ecosystems. Warmer winters and reduced snow cover are damaging tree roots, leading to a significant loss of silica, which plays crucial roles in forest health.
The Community Champions program has a positive impact on community members, increasing communication, leadership, care, and advocacy skills in nursing students. The program's inter-professional collaborations lead to improved outcomes in underserved communities.
A review paper suggests that clinical decision tools can influence pulmonary CTA use and yield, with physician nonadherence being a major obstacle. The study found that validated rules and integrated CDS systems can help appropriate use of CTAs, but further investigation is needed.
A new study published in Scientific Reports reveals that laser energy deposited into plasma produces two low-energy but high-charge electron beams and a single high-energy beam. The beams can have thousands of times more charge than the high-energy beam, offering a novel source of charged particle beams.
Early mammals developed side-to-side jaw motion, enabling them to grind food and eat a more diversified diet. This adaptation contributed to their survival during mass extinctions.
Tropical Cyclone Caleb has formed east of Cocos Island, with NASA's Suomi NPP and Aqua satellites gathering data on the storm. The Joint Typhoon Warning Center predicts Caleb will strengthen briefly before turning west and dissipating in five days.
A study by NYU's Steinhardt School found that second-generation Asian American adolescents benefit less from academic social support than others, with the influence of parents, friends, and teachers being inconsistent. Despite this, they still have strong expectations for college attendance due to high parental and teacher expectations.
Panos N. Papapanou, a Columbia University dental scientist, has received the International Association for Dental Research (IADR) Award for his diverse and prolific contributions to periodontal disease research.
New University of Michigan research finds people use generic-'you' to make meaning from personal experiences, helping them view events as more distant. The study suggests this ability allows individuals to derive broader meanings from their own experiences.
A team of researchers has developed a new method, called 3D genome assembly, that can create a human reference genome from scratch for less than $10,000. This technology allows scientists to assemble the genome of Zika virus-carrying mosquitoes at a fraction of the cost and time required by traditional methods.
Scientists at UTMB and Duke University Medical Center found a new gene interaction that increases the risk of developing multiple sclerosis. This discovery could lead to more accurate tests to identify those at greatest risk and potentially uncover new avenues for treatment.
A study published in the American Journal of Medical Genetics describes the physical and neurologic characteristics of congenital Zika syndrome in 83 Brazilian children. The findings show that microcephaly, joint immobility, and brain abnormalities are common features, with some cases having milder symptoms.
A peptide targeting senescent cells has shown evidence of improving healthspan in naturally-aged mice and mice genetically engineered to rapidly age. The approach reverses age-related loss of fur, poor kidney function, and frailty by blocking the ability of a protein implicated in senescence.
Researchers Claudia Kawas and Kristine Yaffe received the 2017 Potamkin Prize for their work on Alzheimer's disease epidemiology in the oldest-old population. Their studies highlight the critical role of modifiable risk factors in dementia prevention.
A new study recommends that pharmacies offer naloxone universally to patients taking opioid medications, without a prescription requirement. This could lead to a significant decrease in opioid-related overdose deaths.
Researchers from Michigan Medicine have identified a novel strategy to target the genetic anomaly that occurs in half of all prostate cancers. They developed large molecule peptides that can effectively target and degrade the ERG fusion with little impact on regular cell function.
Researchers at Uppsala University have discovered that antibodies against cartilage protein collagen II are associated with a good prognosis in rheumatoid arthritis. The study found that patients with these antibodies showed increased signs of inflammation during the first six months after diagnosis, but no difference later on.
A study published in the Journal of the American Geriatrics Society found that poor oral health and food scarcity are major contributors to malnutrition in older adults. The research suggests that linking patients in need to existing food assistance programs, such as Meals on Wheels, can help address this issue.
The grant will support a 'Research Experiences for Undergraduates' program at FAU's SNMREC, focusing on ocean current resource assessment and system design. Student scholars will engage in hands-on research activities, seminars, and career mentoring.
Researchers developed a gene therapy that restored balance and hearing in genetically modified mice with Usher Syndrome. The study's positive results suggest potential for treating various inherited vestibular and hearing disorders in humans.
Scientists at UVA have discovered an unexpected connection between the immune system and the testes, which may explain why some cancer vaccines are failing to work. This finding could lead to new treatments for autoimmune disorders and male infertility, as doctors target specific antigens released by the testes.
Researchers used ALMA to detect emissions from two distant galaxies, revealing massive, dusty systems with high star formation rates and extended layers of gas. The galaxies are embedded in a large halo or disk of neutral hydrogen gas, indicating rapid growth and evolution.
The Keck School of Medicine is exploring the link between GERD and esophageal cancer, with a focus on inflammation, injury, and repair in the esophagus. The research aims to better understand how myofibroblasts contribute to esophageal cancer development.