Scientists at the Stowers Institute for Medical Research have reported a detailed description of how function-impairing mutations in polr1c and polr1d genes cause Treacher Collins syndrome (TCS), a rare congenital craniofacial development disorder that affects an estimated 1 in 50,000 live births.
Veterinary researchers at the University of Saskatchewan have successfully produced three wood bison calves using in vitro fertilization.
Scientists at the Wellcome Trust Sanger Institute and Max Planck Institute for Psycholinguistics have found a gene responsible for an intellectual disability disorder and proven how it works. The research, published in the American Journal of Human Genetics, details the role of a gene called BCL11A in a new intellectual disability syndrome.
Transgenic Huntington's disease monkeys display a full spectrum of symptoms resembling the human disease, ranging from motor problems and neurodegeneration to emotional dysregulation and immune system changes, scientists at Yerkes National Primate Research Center, Emory University report.
Scientists at the University of Southampton have discovered a potential and novel way of preventing asthma at the origin of the disease, a finding that could challenge the current understanding of the condition.
A scientist from the University of Exeter has helped to identify a male-killing microbe in a tropical butterfly called the African Queen, which leads to the death of all sons when a mother is infected.
Leading scientists from over 20 countries will present their latest findings on 22q, a syndrome caused by a small deletion on the 22nd chromosome, at the 10th Biennial International 22q11.2 Conference beginning today in Sirmione, Italy. Newborn screening, recent studies of non-invasive prenatal testing, best practice management and prevention methods across the lifespan of a patient with 22q, will be discussed during the two-day meeting.
A new study by researchers at Princeton University suggests that sporadic bursts of gene activity may be important features of genetic regulation rather than just occasional mishaps. The researchers found that snippets of DNA called enhancers can boost the frequency of bursts, suggesting that these bursts play a role in gene control.
Scientists from King's College London have used a new genetic scoring technique to predict academic achievement from DNA alone. This is the strongest prediction from DNA of a behavioural measure to date.
International experts are gathering this week in northern Italy to exchange information on a multisystem chromosome-based birth defect that is nearly as common as Down syndrome but is little known to the general public and even to many healthcare providers. The disorder, chromosome 22q11.2 deletion syndrome, results from a loss of genetic material on chromosome 22.
A study led by Washington University School of Medicine in St. Louis has identified a genetic error that weakens the aorta, placing patients with this and similar errors at high risk of aortic aneurysms and ruptures. The findings will help diagnose, monitor and treat patients with aortic disease not caused by well-known conditions, such as Marfan syndrome and other genetic mutations known to disrupt connective tissues.
In a new study published in the Proceedings of the National Academy of Sciences, researchers show that an unusual DNA repeat element on an inactive X chromosome is actually essential to the overall three-dimensional structure of this female-specific genetic phenomenon.
An international team of scientists has sequenced the whole genomes and epigenomes of more than 1,000 Arabidopsis thaliana plants, sampled from geographically diverse locations. The collection of 1,001 genomes and 1,001 epigenomes not only illuminates new aspects of its evolutionary history, but also provides a comprehensive, species-wide picture of the interaction between genetic and epigenetic variation in this important model plant.
Fungal infections pose a major threat to hospital patients and have proven difficult to combat, but scientists have unlocked evidence that could lead to more effective treatment.
A team of Israeli researchers has discovered that mutations in STN1, a gene that helps maintain the ends of chromosomes, cause the rare, inherited disorder Coats plus syndrome. The study, “Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects,” will be published online ahead of issue July 18 in The Journal of Experimental Medicine.
Researchers at the Allen Institute for Brain Science have published an in-depth analysis of a comprehensive molecular atlas of brain development in the non-human primate. This analysis uncovers features of the genetic code underlying brain development in our close evolutionary relative, while revealing distinct features of human brain development by comparison. The study is based on the NIH Blueprint Non-Human Primate (NHP) Atlas, a publicly available resource created by the Allen Institute and colleagues at the University of California, Davis and the California National Primate Research Center. This resource enables researchers to understand the underpinnings of both healthy brain development and many neuropsychiatric diseases. Analysis of the atlas is featured this week in the journal Nature.
Genetics of type 2 diabetes revealed in unprecedented detail
Every time you move around, you are turning on genes in your brain. A study in mice at Washington University School of Medicine in St. Louis shows that if such genes get stuck in the “on” position, the consequences can include faulty brain wiring that affects learning and memory.
A gene associated with Alzheimer’s disease and recovery after brain injury may show its effects on the brain and thinking skills as early as childhood, according to a study published in the July 13, 2016, online issue of Neurology®, the medical journal of the American Academy of Neurology.
Neuroscientists at the University of Chicago studying a unique gene that expresses two proteins, one that is necessary for life and another, that when mutated causes a neurodegenerative disease called spinocerbellar ataxia type 6 (SCA6), have developed a technique to selectively block the disease-causing protein without affecting the other.
A study from scientists at The Scripps Research Institute reveals the role of the gene Mkx in maintaining and strengthening tendons in animal models; the gene also appears to prevent a debilitating tendon condition called “ossification.”
Today 23andMe announced the launch of its new Genotyping Services for Research (GSR) platform, providing scientists with an end-to-end service to incorporate genetic information into their studies.
Character traits, such as grit or desire to learn, have a heavy hand in academic success and are partially rooted in genetics, according to a psychology study at The University of Texas at Austin.
A multi-institution collaboration – including researchers from Cornell and Weill Cornell Medicine – has published research on a tissue-engineering method that allows forward genetics screening on human tissue.
Columbia University Medical Center (CUMC) and Weill Cornell Medicine, in collaboration with NewYork-Presbyterian and NYC Health + Hospitals/Harlem, have been awarded a grant from the NIH for up to $46.5 million over five years to enroll participants in the Cohort Program of President Barack Obama’s Precision Medicine Initiative (PMI).
The Association for Molecular Pathology (AMP), the premier global, non-profit organization serving molecular diagnostic professionals, today announced that it looks forward to working with the U.S. Food and Drug Administration (FDA) to determine the best adaptive approach to regulating Next-Generation Sequencing (NGS) tests. AMP plans on submitting formal comments to the two new draft guidance documents, "Use of Standards in FDA’s Regulatory Oversight of Next Generation Sequencing (NGS)-Based In Vitro Diagnostics (IVDs) Used for Diagnosing Germline Diseases" and "Use of Public Human Genetic Variant Databases to Support Clinical Validity for Next Generation Sequencing (NGS)-Based In Vitro Diagnostics, which were issued on July 6, 2016 as part of President Obama’s Precision Medicine Initiative.
A molecule which, for the last 20 years has been believed to be an indicator of good prognosis in tumours has been shown to have a dark side by new research from The Universities of Manchester, Athens and collaborators, recently published in Nature Cell Biology.
Newcastle researchers have developed a genetic test providing a rapid diagnosis of mitochondrial disorders to identify the first patients with inherited mutations in a new disease gene.
The gene identified and characterized in this study will enhance the understanding of how woody perennial plants begin their growth cycle, enabling development of new approaches to population management.
MINNEAPOLIS – New research shows that a genetic risk score may detect those at higher risk for Alzheimer’s disease long before symptoms appear—even possibly in healthy young adults, according to a study published in the July 6, 2016, online issue of Neurology®, the medical journal of the American Academy of Neurology.
Precise predictions of whether a tumor is likely to spread would help clinicians and patients choose the best course of treatment. But such forecasts are not yet possible. New research reveals that profiling primary tumor samples using genomic technologies can improve the accuracy of breast cancer survival predictions compared to clinical information alone. The study was published in the journal GENETICS, a publication of the Genetics Society of America.
In a study of nearly 3,000 people, Einstein researchers have found that those who live 95 years or more are able to stave off age-related disease, with serious sickness compressed into only a few years late in life.
Researchers have identified genetic mutations affecting the immune system which may lead to the development of more than one bowel tumour at the same time. Understanding how these cancers develop could improve targeting of therapies, according to the study published in Nature Communications.
A research group led by Project Professor Morioka Ichiro (Kobe University Graduate School of Medicine, Department of Pediatrics) and Assistant Professor Iwatani Sota (Kobe University Hospital, Center for Perinatal Care) in collaboration with Doctor Miyawaki Atsushi (team leader at the Brain Science Institute, RIKEN) have clinically proven that a fluorescent protein sourced from Japanese eel muscles can be used to accurately detect unconjugated bilirubin in newborns. This detection method is ideal for newborn patients who can only give limited blood samples, and could revolutionize ways of monitoring jaundice in newborn infants. The findings were published on June 21, 2016 in the online edition of Scientific Reports.
QUT evolutionary biologist Dr Matthew Phillips used molecular dating from DNA sequences to challenge the dominant scientific theory that placental mammals diversified 20 million years before dinosaurs became extinct.
A receptor, first known for its role in mediating the harmful effects of the environmental pollutant dioxin in our body, is now understood to play other important roles in modulating the innate immune response.
Mice are one of the most commonly used laboratory organisms, widely used to study everything from autism to infectious diseases. Yet genomic studies in mice have lagged behind those in humans. In a study, researchers at University of California San Diego School of Medicine used 1,200 outbred mice, which are more similar to a natural population, to test a new cost-effective technique to search for specific genes linked with 66 different physical and behavioral traits.
Using a novel, newly developed mouse model that mimics the development of Alzheimer’s disease in humans, Johns Hopkins researchers say they have been able to determine that a one-two punch of major biological “insults” must occur in the brain to cause the dementia that is the hallmark of the disease
Researchers at Umeå University in Sweden are first to discover that bacteria can multiply disease-inducing genes which are needed to rapidly cause infection. The results were published in Science on June 30, 2016.
TORONTO, June 30, 2016 - Fruit flies may seem simple, but these common visitors to the fruit bowl can drastically alter their gene expression and metabolism to respond to temperature changes in their environment, an international team of researchers have shown.
Using a database of human tumor genomic data, researchers at the University of California San Diego, School of Medicine and Moores Cancer Center discovered that mutation hotspots known as kataegis are a positive marker in breast cancer — patients with kataegis have less invasive tumors and better prognoses. The study, published June 30 in Cell Reports, also suggests kataegis status could help doctors determine treatment options that might work best for patients with the mutation pattern.
The Perelman School of Medicine at the University of Pennsylvania has launched a program, called AAV 3.0™, to create new viral vectors to find quicker and better treatments for an array of diseases. James M. Wilson, MD, PhD, a professor of Medicine and director of the Orphan Disease Center, will lead an interdisciplinary team of over 30 scientists.
Extending what they learned from flies to a mouse model, researchers discover a possible first therapy for an uncommon childhood disease.
Biologists from Queen Mary University of London (QMUL) have discovered that the evolutionary history of a hormone responsible for sexual maturity in humans is written in the genes of the humble starfish.
Using so-called next-generation genome sequencing, researchers at Johns Hopkins have identified 84 potential inherited gene mutations that may contribute to the most severe forms of bipolar disorder. About 5.6 million Americans are estimated to have bipolar disorder.
A team of scientists has uncovered the global, evolving, and historic make-up of Plasmodium vivax, one of the five species of malaria that infect humans. The research, which links the spread of the parasite back to colonial seafaring, among other phenomena, underscores the challenges health experts face in controlling the parasite.
A University of Adelaide analysis of genetic mutations which cause early-onset Alzheimer’s disease suggests a new focus for research into the causes of the disease.
International researchers centered at Nagoya University use a highly sensitive technique to identify significantly more DNA sequence repeats in patients with schizophrenia than in control individuals, and outline a possible link between genome instability and disease.
Cold Spring Harbor, NY -- The genome of the corn plant - or maize, as it's called almost everywhere except the US - "is a lot more exciting" than scientists have previously believed. So says the lead scientist in a new effort to analyze and annotate the depth of the plant's genetic resources.
Obese male mice and normal weight female mice produce female pups that are overweight at birth through childhood, and have delayed development of their breast tissue as well as increased rates of breast cancer. The findings come from one of the first animal studies to examine the impact of paternal obesity on future generations’ cancer risk.
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