Articles tagged with Developmental Genetics
Researchers at UC San Diego have developed a new 'split-drive' system that harnesses the spread of cargo carried by gene drives, providing more control over their releases. The system uses a non-spreadable Cas9 component to separate genetic implementation processes, increasing safety and control.
A study reveals that epigenetic mechanisms, such as DNA methylation, play a key role in the adaptation of native Peruvians to high altitudes. The findings show that early developmental exposures can have persistent impacts on DNA methylation patterns, leading to improved lung volumes and reduced susceptibility to idiopathic pulmonary f...
A UConn researcher has identified a suite of genes and regulatory elements critical to normal heart development using genome science technology. The study found over 100,000 regulatory sequences active during human heart development, including more than 13,000 that had never been annotated as active before.
Researchers at the University of Göttingen found that beetle larvae start using their brains before they are fully formed, defying conventional wisdom on insect intelligence. The study revealed that key parts of the brain's central complex are active in the larva, allowing it to orient itself in its environment.
Researchers discovered two genetic mutations in moles that lead to the development of ovarian and testicular tissues, resulting in high levels of testosterone and aggression. The study sheds light on how DNA changes contribute to evolution and the formation of unique sexual features in mammals.
Scientists have identified over 40 quantitative trait loci associated with 14 traits in cassava, including disease responses and nutritional quality. This discovery aims to improve cassava breeding and provide a powerful tool for breeders.
Researchers have created two new cytosine base editors (CBEs) that induce fewer off-target mutations in rice, showcasing improved specificity and precision. The CBEs were designed using a truncated human APOBEC3 cytidine deaminase (A3Bctd) and underwent rigorous testing to validate their performance.
Researchers at The Francis Crick Institute identified a genetic cause of testicular tissue developing in people with female chromosomes. They found that mutations affecting the Wilms' Tumor 1 (WT1) gene lead to an imbalance that favors male testis development.
Dr. R. Rodney Howell is recognized for his innovative work in newborn screening, which has saved countless lives. He will receive the first Dr. Michael S. Watson Genetic and Genomic Medicine Innovation Award from the ACMG Foundation for Genetic and Genomic Medicine.
A recent study by University of Oxford researchers has found a strong link between maternal malnutrition and the severity of Congenital Zika Syndrome (CZS), a devastating condition caused by Zika virus infection. The study suggests that poor diets, particularly those lacking in protein, can exacerbate the effects of CZS, highlighting t...
A research team discovered that several types of highly aggressive and fatal pediatric brain tumors originate from stalled development of progenitor cells in the pons and forebrain. The cells' progress is arrested, and they transform into malignancies while retaining features of the original cells.
A Clemson University researcher is developing genetically improved perennial grasses that can thrive with less water and serve as a sustainable fuel source. The goal is to create more stress-resistant plants through molecular strategies, including site-specific DNA recombination systems.
Researchers discovered that jumping genes cause genetic changes in some patients with undiagnosed neurodevelopmental diseases. Diagnoses were achieved for three previously undiagnosed children, helping their families access support and understand disease risks.
A new study has identified 233 genetic sites that contribute to multiple sclerosis (MS) susceptibility, highlighting the involvement of peripheral immune cells and microglia. The findings confirm earlier results and provide a rich perspective on the molecular events leading to MS.
A recent study published in Nature Communications found that children with high genetic risk of developing type 1 diabetes have distinct gut microbiomes compared to those with low risk. The research suggests a link between genetic predisposition and environmental factors, highlighting the importance of the gut flora in autoimmune disea...
Geetu Tuteja, an assistant professor at Iowa State University, has been selected as a Pew Scholar to study genetic networks that establish a healthy connection between embryos and their mothers. She will receive a four-year, $300,000 grant to conduct biomedical research aimed at advancing human health.
Researchers found that a specific gene, Fads2, helps marine stickleback synthesize DHA, essential for development and health. The ability to utilize this nutrient determines where fish colonize freshwater habitats.
Experts argue that new regulations challenging women with differences of sex development are based on limited scientific data and may set an unscientific precedent. Blood testosterone levels vary naturally in men and women, making it difficult to determine direct associations between testosterone levels and sports performance.
Researchers warn that increasing access to genetic data for educational outcomes may lead to misuse and perpetuate biased policies. Genetic markers can explain a small portion of variation in educational attainment and cognitive ability.
A genome-wide association study found genetic variants that influence head circumference and intracranial volume in 46,000 adults and children, revealing stable genetic influences during development. The study identified 9 novel loci associated with large effects on head circumference, including a rare variant of the TP53 gene.
Researchers have developed a new risk score that takes into account genetic information to identify babies at high risk of type 1 diabetes. The score is nearly twice as efficient as existing methods and also effective at predicting type 1 diabetes in adults, helping with early diagnosis and treatment.
Researchers developed a new way to predict breast cancer risk by combining genetics, family history, weight, age at menopause, alcohol consumption, and hormone replacement therapy. The online calculator can identify different risk groups and inform tailored screening and preventative therapy.
Researchers found a new dynamic between mother's genome and their offspring's genome influencing development and adaptation to ecological conditions. Genetic mismatches can hinder adaptation in some species.
The NSF's EDGE program awards $10 million to develop genomic tools that can identify mechanisms determining how genes affect organisms' physical and functional characteristics. Researchers will create innovative tools to predict phenotype, contributing to 'Understanding the Rules of Life' and various societal benefits.
The NSF's EDGE program has awarded $10 million to develop genomic tools that will enable researchers to identify mechanisms determining gene function in organisms. This research aims to advance efforts to predict phenotype by developing enhanced genomic tools and infrastructure, contributing to understanding the rules of life.
Researchers have discovered new genes that may contribute to the development of Alzheimer's disease, a complex condition characterized by neurodegeneration and memory decline. The study identified rare variations in genes associated with an inflammatory response and changes in protein production.
Researchers have identified a genetic mutation and faulty development process that causes a debilitating brain-based disorder in children. The mutation, in the alpha-N-catenin gene (CTNNA2), leads to abnormal cell adhesion and impaired neuronal migration, resulting in severe intellectual impairment and limited life expectancy.
A new $2.2 million federal grant will fund research into genetic factors regulating ovarian reserve, which can impact fertility and reproductive lifespan. The study aims to identify gene variants contributing to ovarian reserve, offering new diagnosis and treatment avenues for fertility problems.
Researchers have identified a control switch that regulates genetic signals during embryonic development, which could help prevent birth defects and cancers. The study found that externally driven fluctuations in gene signaling are suppressed by the Notch pathway, a potential target for modulating genetic signals.
Geneticists at Martin Luther University Halle-Wittenberg deciphered a central signalling pathway that encodes and controls the synchronisation of multiple processes during germ cell development in C. elegans. This process involves RNA-binding proteins and a MAP kinase signalling pathway, optimising germ cell production.
The Human Frontier Science Program has awarded $300,000 to 11 young researchers to support their frontier research projects. The recipients will return to their home countries or move to another member country to continue their work.
Researchers at Aarhus University have developed a llama-antibody, or nanobody, that can prevent the cleavage of the C3 protein, which plays a crucial role in the innate immune system. This breakthrough could lead to new treatments for kidney diseases and conditions where the immune system is overactive.
Researchers found adult fish change swimming trajectories in response to a change in the Earth magnetic field, even without visible light. They identified a candidate region in the brain that could lead to the discovery of magnetic receptor cells.
Researchers at UC are studying the genetic development of spider eyes to find opportunities for research into human visual challenges. They found that spiders evolved from simple compound eyes to complex eyes over a short period of 50 million years, and that they use similar genetic pathways to build their eyes as insects do.
A team led by Dr. Marcus Conrad showed that selenium-containing GPX4 protects specialized neurons from oxidative stress and ferroptotic cell death. This study explains why selenium is essential for mammals, but not dispensable in other organisms.
The World Health Organization has approved tivanisiran as the international nonproprietary name for SYL1001, a compound developed by Sylentis using RNA interference technology. The drug is administered in ophthalmic drops and aims to improve quality of life for patients with dry eye syndrome, a condition affecting millions worldwide.
A mutated Hoxd3 gene affects intestinal development and absorption, contributing to certain types of intestinal insufficiency in premature infants. The discovery provides a potential diagnostic tool for this disease, which remains unknown until now.
A special issue in the Journal of Dental Research explores recent scientific and technical advances in craniofacial development and genetics. The discoveries reported could improve diagnosis and treatment of challenging craniofacial and dental anomalies.
The American Society of Human Genetics has honored Dr. Arthur L. Beaudet with the Victor A. McKusick Leadership Award, recognizing his groundbreaking work on uniparental disomy and its implications for genetic diseases. His current research focuses on neuronal carnitine deficiency as a risk factor for autism.
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 have made significant progress in understanding the mechanisms underlying RASopathies by studying zebrafish and fruit flies. They discovered that lower signaling levels can correspond to a RASopathy disease, challenging conventional wisdom that these disorders result from overactive RAS pathways.
Stowers researchers discovered that DNA enhancers engage in an ongoing contest between activation and repression, resulting in a different epigenetic state of histone proteins. This finding clarifies the often misunderstood role of repression in DNA enhancers and its importance as an action.
Scientists at Helmholtz Munich identify ACSL4 enzyme as crucial for ferroptosis, a form of cell death linked to cancer and neurodegenerative diseases. The researchers found that ACSL4 plays a central role in generating the signal that initiates cell death, providing new insights into the development of potential therapeutic approaches.
Stanley M. Gartler, PhD, receives the 2016 Victor A. McKusick Leadership Award for his extensive research in X chromosome inactivation, somatic cells, and tumor biology. He has made significant discoveries and connections across multiple fields.
Mutations in the RERE gene can cause developmental problems typical of 1p36 deletion syndrome, a relatively common cause of intellectual disability. The study identified 10 patients with RERE mutations, who exhibited similar medical conditions to those with 1p36 deletions.
Researchers have identified a key gene associated with cleft lip and palate, providing a step closer to understanding the condition's causes and developing effective prevention approaches. The discovery highlights the complex interplay between genes and environmental factors in shaping fetal development.
Researchers at Georgia State University found no evidence of a genetic overlap between risk for schizophrenia and smaller subcortical brain volumes in a global study involving nearly 600 researchers. The study analyzed brain scans from almost 12,000 individuals worldwide to examine the genetic basis of schizophrenia.
A study found that nearly three quarters of doctors surveyed wouldn't refer children with multiple developmental delays to a genetics specialist. This may delay diagnosis and treatment of genetic disorders, which can be treated earlier.
A new study has identified four previously uncharacterized genetic disorders in children, using a computational approach to analyze DNA samples from over 4,000 families across the UK and Republic of Ireland. The researchers compared these samples with data from millions of people who have agreed to share their genetic information.
Researchers at the University of Georgia found that the same genetic tools responsible for limb development in animals also control the formation of external genitalia in snakes. The study suggests that snakes retained DNA associated with limb development through millions of generations, as it may have been important for their reproduc...
Researchers identify Zelda protein as key player in activating genes critical for embryonic development. The protein opens up enhancer regions, allowing other regulatory factors to bind and activate associated genes.
Researchers at the University of Utah are exploring the link between congenital heart defects and neurological disorders in children, discovering genetic mutations that affect both heart and brain function. The goal is to develop precision medicine for CHD patients and tailor treatment based on genomic sequence.
A recent study published in Molecular Aspects of Medicine has identified genetic markers that link an increased risk for developing both type 2 diabetes and Alzheimer's disease. The research, led by Dr. Giulio Maria Pasinetti, found specific genetic variations associated with higher susceptibility to both conditions.
Researchers identified a new genetic syndrome CHOPS, shedding light on the master switch that controls many other genes. The study provides important information to help caregivers manage the disorder and may offer clues to eventually treating it.
A*STAR scientists identified a genetic pathway responsible for the size of the human brain, which accounts for superior cognitive abilities. The KATNB1 gene is essential for central nervous system development in humans and other animals.
A nationwide project is diagnosing rare diseases in children, finding a cause for nearly a third of first 1,000 families. Genome-wide sequencing and database comparison help identify genetic keys to disorders.
Marnie Halpern has made significant contributions to understanding the patterning of the nervous system using novel genetic approaches. Her research focuses on regional specializations within the neural tube, with a particular emphasis on brain asymmetry.
Researchers from Scripps Florida have discovered a gene called Spns1 that plays a critical role in combating aging. The study found that manipulating the function of this gene can affect both developmental senescence and long-term biological aging.
Jay Shendure received the 2014 HudsonAlpha Life Sciences Prize for his pioneering work on next-generation sequencing technologies. He completed a detailed DNA sequence of HeLa cells, the first immortal human cell line grown in a lab.
Researchers at the University of Adelaide have developed a web-based tool to examine the genetic interactions behind grapevine development. The 'VTCdb' database enables scientists to identify genes working together in networks, leading to better understanding of complex traits and improved wine production.