Articles tagged with Developmental Genetics
A nationwide UK research study has diagnosed around 5,500 children with severe developmental disorders, identifying the genetic cause of their condition. The Deciphering Developmental Disorders study used genomic sequencing technology to provide diagnoses for families from across the UK and Ireland.
Researchers used demographic modeling to reconstruct wheat's evolutionary history during the Holocene, revealing its origins near the Caspian Sea and slow speciation process. The study also found that crop relatives are valuable for breeding resilient crops but face decline due to changes in human diets and climate change.
Researchers have developed a new method for downregulating gene translation in plants using upstream open reading frames (uORFs). The study, published in Nature Biotechnology, demonstrates the potential for precise and incremental regulation of gene expression.
The Vilcek Foundation will award three Vilcek Prizes for Creative Promise in Biomedical Science to rising immigrant scientists. The prizes recognize and celebrate their contributions to their field.
Researchers found that smaller dinosaurs grew rapidly, while larger ones grew slowly, challenging the idea that growth rate determines body size. The study also discovered that changes in growth timing can impact traits such as offspring size and susceptibility to predators.
Researchers developed a computer software called CellOracle that can predict the role of individual genes in early embryonic development. The tool helps scientists identify key genes involved in development but may have been missed by older methods, providing new insights into birth defects and cancer.
Researchers discovered a causal mechanism behind BPTA syndrome by identifying a change in the HMGB1 protein that disrupts cellular self-organization. This disruption leads to developmental disorders and predisposition to cancer, with hundreds of comparable genetic changes associated with various conditions.
Researchers have identified a molecular finger that switches on genes in one-cell embryos, revealing a potential link to cancer. The discovery sheds light on the mechanisms regulating embryonic development and may lead to new insights into cancer detection.
In a mouse model of laser-induced CNV, RORα expression was highly increased in the choroidal/RPE complex post-laser, while loss or inhibition of RORα worsened CNV with increased lesion size and vascular leakage. RORα negatively regulates pathological CNV development by modulating angiogenic response and inflammatory environment.
Researchers developed a flexible genetic hacking system to convert split gene drives into full gene drives, enabling safe testing and potential real-world applications. The new system revealed surprising fitness costs of full drive systems, with slower-than-predicted spread rates in cage experiments.
Researchers found that abnormal methylation processes lead to disruption of gene expression essential for brain development in people with Williams syndrome. The study suggests targeting treatments to correct these disruptions.
A new breeding strategy enables rapid production of tomatoes with various fruit colors, including red, yellow, pink, and green, using CRISPR/Cas9-mediated multiplex gene editing. This method requires less time and produces transgene-free plants with desirable traits, offering a promising approach for improving multigene-controlled traits.
Researchers at Cedars-Sinai have created a detailed molecular profile of endometriosis, identifying key differences between major subtypes and potential therapeutic targets. The new database will lead to improved care for millions of women suffering from the disease.
A new study pinpoints the first-ever domestication of cats to nearly 10,000 years ago in the Fertile Crescent region. Genetic analysis reveals that humans' transition from hunter-gatherers to farmers sparked the bond between humans and rodents-eating cats, leading to their migration with humans worldwide.
Researchers discover how E. coli bacteria manipulate the immune system to cause ileocolitis in susceptible individuals. The study reveals the key role of agr2-associated ER stress in promoting dysbiosis and triggering CD103+ dendritic cell IL-23-dependent inflammation.
Researchers propose a new approach to understanding Down syndrome by examining global DNA effects rather than individual genes. They found decreased cellular replication and survival capabilities across all cells with trisomy, regardless of which chromosome is duplicated.
Researchers at Hokkaido University discovered a novel sex-determination mechanism in the Amami spiny rat, a species lacking the Y chromosome and Sry gene. The mechanism involves the upregulation of Sox9 gene on chromosome 3, induced by a new regulatory element similar to Enh14.
A study of 1.5 million children found no association between prenatal benzodiazepine exposure and increased risks of autism spectrum disorder or attention-deficit/hyperactivity disorder. The results challenge current assumptions about maternal benzodiazepine use and neurodevelopmental disorders.
Researchers have developed mini eyes, or organoids, from stem cells donated by patients with Usher syndrome. These mini eyes allow scientists to study light-sensing cells and understand the development of blindness in the disease.
Researchers from Aarhus University identified seven genetic variants common to both autism and ADHD, as well as five specific to only one diagnosis. The study suggests a significant overlap in underlying genetic causes and may lead to more precise diagnoses and earlier interventions.
A genome-wide study has identified two genetic variants and structural changes in chromosomes associated with posterior urethral valves, a condition that affects 1 in 4,000 males. The study highlights the importance of including diverse populations in genetic studies to identify genetic contributors to rare conditions.
Researchers from Children's Hospital of Philadelphia used advanced mapping techniques to identify causal genes and target pairings in the pancreas linked to type 2 diabetes. The study revealed alpha and acinar cells play a greater role in disease development than previously thought.
A new study suggests that low-dose ketamine is generally safe and effective in treating clinical symptoms of children diagnosed with ADNP syndrome, a rare neurodevelopmental disorder. The treatment resulted in improvements in social behavior, attention deficit, and hyperactivity, as well as reduced aggression.
Researchers have developed a novel DNA-based method to identify people at greater genetic risk of developing Alzheimer's disease before symptoms appear. The method uses data on common DNA variants from over 7.1 million individuals and predicts a person's risk of Alzheimer's, depending on which DNA variants they have.
Researchers discovered an evolutionarily-conserved genomic region that regulates Wingless protein expression during wing formation and regeneration. This region also ensures proper wing development, but chronic activation leads to tumour growth.
Researchers have mapped multi-gene activity hotspots in developing mouse embryos, providing a detailed resource for assessing how key genes control tissue differentiation. The study reveals 'hot spots' where many genes are turned on together, guiding development and previously invisible signalling centres.
A new study of over 150,000 participants has identified more than 70 genes strongly associated with autism and over 250 with strong links to the condition. The analysis provides insights into the molecular roots of brain development and neurodiversity.
A team of researchers from The Mount Sinai Hospital has made a groundbreaking discovery into the genetic and molecular mechanisms that predispose individuals to Alzheimer's disease. They identified 21 candidate risk genes, including SPI1, which regulates microglia and AD risk.
A new study demonstrates that glyphosate successfully crosses the blood-brain barrier and enhances TNF-α levels in mice. The herbicide is linked to increased production of soluble beta amyloid and reduced neuron viability, suggesting potential hazards to neurological health.
Researchers used C. elegans to investigate inter-individual variation in metabolism and found genetic variants that affect metabolic differences between individuals. They discovered unique metabolites in different strains of the worm, which could help tailor biomedical recommendations to individual metabolism.
Researchers analyzed germline variants in breast cancer patients to identify their role in metastasis development. The study found that host genetic makeup contributes to metastasis through dysregulation of gene expression, promoting the dispersion of metastatic seeds and establishing a conducive environment for their growth.
A preliminary study published in eLife suggests that sperm screening can identify potentially harmful new genetic mutations and help prevent them from being passed on to offspring. The study found that 55 mutations were detected in the men's sperm, including 15 passed on to an embryo.
Researchers discovered three gene mutations that, when combined, allow rice plants to retain more seeds, increasing crop yield. The study sheds light on the emergence of cultivated rice from wild rice plants and its potential applications in improving rice cultivation.
A KAUST-developed nanotechnology platform uses tiny iron wires that bend in response to magnetic fields to accelerate bone cell formation. Bone-forming stem cells grown on the moving substrate transform into mature bone much faster than usual, potentially paving the way for more efficient regeneration of bone.
A new study published in PLOS Biology found that IVF embryos often undergo genetic and metabolic changes that inhibit development. The researchers discovered that certain embryos enter a senescent-like state, but treating them with resveratrol can help overcome this arrest and promote further development.
Researchers at Simon Fraser University developed a biomarker that combines genetic features and brain MRI data to predict the future conversion to Alzheimer's disease. This combination improves the performance in predicting dementia progression, especially for patients with mild cognitive impairment.
Researchers discovered that the TCF-1 protein enables plasticity in cells across neighborhoods during T cell development, weakening insulation and increasing interactions between adjacent neighborhoods. This finding sheds new light on immunotherapy approaches and could lead to more efficient cancer treatments.
Researchers from the University of Bath have made significant breakthroughs in understanding how a type of gene regulates essential nerve cells. Long non-coding RNAs (lncRNAs) play a crucial role in controlling brain development and function, particularly during embryonic development and early life.
Researchers identify genetic determinants of immune phenotypes in type 1 diabetes, highlighting 11 genes as potential candidates for new treatments. Genetic variants affecting T-cell composition and cytokine production were found to be significantly involved in the disease.
A new study has discovered that rare pieces of genetic code can serve as another layer of control in the genome, essential for fertility and evolutionary innovation. Researchers found that certain tissues are more tolerant of diverse codons, particularly the testes, which may play a critical role in fertility.
A CNIC team has created a dynamic 3D atlas of the formation of the heart during embryonic and fetal development, allowing for the identification of the first appearance of left–right asymmetry in the heart. This study provides important information on the development of congenital heart malformations.
Researchers at Princeton University demonstrate how specialized genetic sequences coordinate gene expression during early fly embryonic development. Tethering elements bring distant genes together in three-dimensional space, facilitating their co-expression.
Scientists have constructed a detailed map of lung development after birth, providing insights into the genetic and epigenetic factors that affect lung health. The study used next-generation single-cell sequencing technologies to analyze over 80,000 human and mouse lung cells, revealing clues on how cell types communicate and develop.
A study published in Ophthalmology identified the genetic spectrum behind foveal hypoplasia, a rare condition affecting vision development. The research combined data from over 900 cases across the globe and revealed relationships between genetic defects and the degree of arrested foveal development.
The ACMG Foundation presented four Next Generation Fellowship Awards to outstanding individuals in medical genetics and genomics. Ibrahim Elsharkawi and Jessica Priestley received the awards for their dedication to biochemical genetics, with support from Bionano Genomics, Spark Therapeutics, Takeda, Sanofi-Genzyme, and Pfizer.
The American Association for Cancer Research (AACR) announced its newly elected class of Fellows of the AACR Academy, recognizing distinguished scientists who have propelled innovation and progress against cancer. The 2022 class consists of 33 luminaries from various scientific disciplines.
Researchers at Clemson University have identified a genetic variation associated with congenital idiopathic megaesophagus (CIM) in German shepherd dogs, which is often fatal if left untreated. A genetic test using melanin-concentrating hormone receptor 2 and dog's sex can predict the risk of CIM with 75% accuracy.
Researchers from Skoltech identified four genetic markers that can predict tocopherol composition in sunflower lines, which is crucial for producing high-quality dressing and cooking oils. This breakthrough discovery will help facilitate faster breeding of new varieties.
A team of scientists has identified hundreds of new genomic loci associated with brain structure, shedding light on how the human brain is shaped. The study used genetically informed brain atlases to uncover the largest number of genetic variants linked to cortex size and thickness.
A Texas A&M study found that prenatal exposure to alcohol in males can lead to increased frequency of fetal development issues, including placental inefficiency and growth restriction. The research suggests that male behavior and environmental factors play a role in shaping fetal development beyond just genetics.
Breakthrough research reveals Tuberous Sclerosis Complex arises from human-specific progenitor cells, explaining its pathology. Human-derived cerebral organoid models shed light on complex brain development and potential mechanisms for other diseases.
The use of polygenic risk scores in pre-implantation genetic testing is unproven and can lead to discrimination and stigmatization. ESHG argues that there is no evidence PRSs can predict disease likelihood in unborn children, making their application premature.
Researchers from Monash University have developed a method to determine which genes are responsible for congenital heart disease (CHD). The technique identified 35 new genes not previously suspected in the disease, opening the way for more accurate pre-natal genetic testing.
Researchers from UNIGE found that a single missing genetic switch can lead to clubfoot and other malformations by disrupting cellular activation. The study highlights the crucial role of genetic switches in developmental disorders, suggesting that flaws in these mechanisms may be responsible for numerous malformations.
Jpx RNA regulates CTCF anchor site selection and formation of chromosome loops, determining gene expression. This discovery may lead to new treatments for diseases influenced by chromatin looping.
Researchers genetically mapped the cell types of the mouse iris, revealing four new cell types and mapping genetic changes that occur when the iris dilates. This research may help connect genetic similarities between mice and humans, offering clues for developing new diagnostic tests and treatments for eye diseases.
Researchers used CRISPR gene-editing tools to show that a gene controlling bone growth in fish fins plays the same role in forming fingers and toes in four-legged creatures. The study suggests that the last common ancestor between ray- and lobe-finned fish already had the genetic toolkit to shape their appendages.
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.
Researchers at UC San Diego will document brain development from birth through early childhood, focusing on environmental factors and mental disorders. The HBCD study aims to optimize brain imaging technologies and predict future behavioral problems.
A new study published in Current Biology found that active genes do not form clusters and share resources during early fruit fly development. The researchers used high-resolution microscopy to visualize the physical position of active genes within the nucleus, observing that each gene has its own pool of transcriptional machinery.