Research on inherited diseases and their causes. Covers RNA therapies, hidden diabetes subtypes, pulmonary disease, and prenatal genetic testing.
A study using UK Biobank data found a genetic link between psychotic experiences and neuropsychiatric disorders. The research suggests that individuals with a genetic predisposition to psychosis may also be at increased risk for other mental health conditions.
Researchers identified a critical gene network disrupted in autism spectrum disorder (ASD) that correlates with symptom severity. The findings suggest genetic factors influencing brain development during pregnancy are primary causes of ASD, providing potential biomarkers for early diagnosis and prediction of symptom severity.
Researchers identified a genetic flaw in the ZCCHC8 gene that decreases protein production necessary for maintaining telomere length. This finding may lead to the development of diagnostic markers for inherited 'short telomere' diseases.
Administering nanoparticles carrying messenger RNA for the arginase gene restored urea cycle function and prolonged lifespan in genetically deficient mice. This treatment approach holds promise for treating inherited metabolic disorders like arginase deficiency.
A new study by McMaster University researchers reveals that over 1,125,000 men globally have hemophilia, with 418,000 having severe forms of the disease. The study found a significant life expectancy disadvantage for those with hemophilia, particularly in lower-income countries.
Researchers at Brown University developed a simple method to isolate trophoblast cells from cervical swabs, which carry the complete fetal genome. This technique enables less invasive diagnosis of genetic disorders in developing fetuses, increasing the proportion of trophoblasts by 700%.
Researchers at Massachusetts General Hospital have discovered a gene that regulates the behavior of an enzyme involved in Alzheimer's disease, which also causes a rare neurological disorder. The study suggests that targeting this enzyme could lead to new treatments for Alzheimer's.
A team of researchers has identified dozens of genetic mutations linked to rare eye and skin disorders in knockout mice. These discoveries may help clinicians identify equivalent genes in human patients with no known genetic cause.
Researchers identified the molecular mechanism linking a protein mutation with abnormal nervous system development in neurodevelopmental disorders. A complex of proteins called the SWI/SNF complex was found to be affected, leading to changes in gene expression and brain development.
A new study led by Trinity College Dublin researchers has found that genetics account for about 52% of the risk of developing motor neuron disease. The study involved 1117 people diagnosed with MND and found that those who carried an abnormal copy of the C9orf72 gene were more likely to have inherited it from their mothers.
A collaborative research project analyzing over 400,000 individuals identified several sets of genes marked across all five psychiatric disorders. These genes play a role in the same biological pathway or are active in the same tissue type, increasing risk for multiple disorders.
Stephen Montgomery, a Stanford University geneticist, receives ASHG's Early-Career Award for his innovative work on gene regulation, rare genetic variants, and exercise-induced molecular impacts. He has made significant contributions to the field, mentoring numerous students and postdoctoral researchers.
Researchers analyzed data from Denmark, Finland, Sweden, Israel, and Western Australia to estimate the impact of genetic and non-genetic factors on autism spectrum disorder (ASD) risk. The study found that both genetic and non-genetic factors contribute significantly to ASD risk.
A global research study led by the University of Otago in New Zealand identified eight genetic variants significantly associated with anorexia nervosa. The findings suggest a metabolic basis to the disease, linking it to traits such as body mass index and physical activity levels.
A large-scale genome-wide association study identifies eight genetic variants associated with anorexia nervosa, suggesting a combination of metabolic and psychiatric components. The findings encourage considering metabolism in understanding the disorder's causes and improving treatment approaches.
A new clinical trial will test the effects of the anti-obesity drug setmelanotide on participants with Bardet-Biedl syndrome or Alström syndrome, two rare genetic disorders that include obesity as a symptom. The trial aims to assess the drug's ability to lead to significant weight loss in these individuals.
Researchers at Harvard Medical School developed a precise gene-editing tool to target the faulty Tmc1 gene in Beethoven mice, achieving an unprecedented level of accuracy. The treatment successfully preserved hearing in mice with hereditary deafness, paving the way for potential treatments of other dominantly inherited genetic diseases.
Researchers at Children's Hospital of Philadelphia identified a gene mutation responsible for a complex defect in a young boy's body. They harnessed this knowledge to develop a novel treatment that dramatically improved the boy's condition, reshaping his abnormal lymphatic vessels into a more normal anatomy and function.
Researchers discovered a new mutation in the leptin gene associated with severe early-onset obesity. The mutation causes Leptin proteins to be misfolded, rendering them ineffective and leading to excess body fat.
A Mount Sinai study reveals that over 30% of heart disease risk is attributed to genetic factors, surpassing previous estimates. Researchers identified 28 independent gene networks active in coronary artery disease and found an additional 11% contribution to the inherited risk.
A team of researchers delivered a therapeutic gene to the spinal canal of infant rhesus monkeys, resulting in sustained expression of the alpha-I-iduronidase enzyme. The study's findings suggest a promising approach for treating severe forms of neuropathic storage diseases.
Researchers analyzed genomic data from over 31,000 parent-child trios and identified 307 significantly enriched genes, 49 of which are novel. The study explains about 51% of the DNM burden in their dataset, leaving half unexplained, providing clues for future discovery.
Researchers created an AI algorithm, VarCoPP, to identify genetic combinations causing rare diseases. The algorithm provides confidence intervals for predicting pathogenicity, aiding doctors in diagnoses.
The SYNGO Consortium has released a public data resource that provides a standardized framework for describing synaptic functions. The knowledge base includes nearly 3,000 descriptions of more than 1,100 unique synaptic genes, compiled from published experimental information.
The new system uses a database of clinical information to pinpoint DNA changes that cause illness, predicting consequences and ruling out harmless variations. This improves diagnosis for disorders caused by multiple genes, such as severe intellectual disabilities in children.
Researchers are using novel experimental approaches to understand autism spectrum disorder, including studying networks of interacting genes and protein regulation. These studies aim to identify common molecular mechanisms underlying the disorder, which could lead to new treatments.
A team developed an integrative model of the transcription preinitiation complex (PIC) using IBM's Summit system. The new model provides superior insights into protein structures and dynamics, revealing how mutations cause genetic diseases.
A new study using single-cell analysis of brain cells from autism patients found that specific genetic changes in neural cells and brain circuits correlate with the clinical severity of autism. The research identified autism-specific genes that could represent high-priority targets for new therapeutic treatments.
A study of human brains found that gene activity in specific cells is associated with autism severity, targeting potential treatments. Researchers identified a common set of circuit changes in neurons and glial cells, which were closely correlated with behavioral symptoms.
A new study reveals that up to 90% of individuals at risk for Huntington's disease choose not to take a gene test, primarily due to uncertainty about treatment options and the inability to undo the knowledge. The study suggests that supportive counseling is necessary to help these individuals make informed decisions.
Researchers identified 20 new genetic associations with bipolar disorder in a massive study of over 50,000 subjects across 14 countries. The findings highlight the complexity of the disease and its overlap with other psychiatric disorders.
A recent study published in eLife has identified the gene SHANK3 as a key player in sleep problems associated with autism spectrum disorder. The research found that individuals with autism have trouble falling asleep due to difficulty regulating their body's circadian clock, which regulates the 24-hour day and night cycle.
Dr. Bradley Yoder receives the prestigious prize for his significant research on polycystic kidney disease, recognizing his work on primary cilium function and its role in cyst development. The award aims to stimulate research towards a treatment and cure for PKD.
Salil Lachke's research aims to understand the developmental disorders that cause anophthalmia and microphthalmia, rare eye defects occurring in 1 in every 5,300 babies born in the US. The NIH grant will support his investigation of Rbm24, a gene implicated in eye development and potentially other diseases.
A machine-learning system using clinical natural language processing and genome sequencing diagnose rare genetic diseases in record time, providing critical information to intensive care physicians. The automated pipeline achieved significant time-savings and concurred with expert manual interpretation in 97% of cases.
Researchers developed an AI-powered platform that rapidly diagnoses genetic diseases in critically ill infants, matching expert interpretation in 95 cases. The platform correctly diagnosed three of seven ICU patients with 100% sensitivity and precision, affecting treatment outcomes.
A Tel Aviv University study reveals that gene deletion in neurons is responsible for hypersocial behavior in Williams syndrome, caused by myelin sheath deficits. The research also identifies potential treatments using FDA-approved MS drugs.
Researchers have identified a rarely-seen type of DNA mutation as the cause of an inherited metabolic disorder, a condition where the body can't break down specific nutrients. The gene responsible for the disorder is intact but a repeat expansion error prevents it from functioning.
A new research unit at Charité - Universitätsmedizin Berlin aims to improve the identification and diagnosis of rare genetic diseases by analyzing non-coding DNA sequences. The researchers will develop software for whole-genome data analysis, enhancing our understanding of gene regulation and transcription.
Dr. Roger E. Stevenson, a senior clinical and research geneticist at the Greenwood Genetic Center, has received the 2019 ACMG Foundation David L. Rimoin Lifetime Achievement Award. The award recognizes his vision in founding the center, groundbreaking research on X-linked intellectual disability, and leadership in establishing programs...
A large genomic study of nearly 275,000 people identified 18 genetic variants associated with either heavy alcohol consumption or alcohol use disorder. The study suggests that certain genes, such as DRD2 and SIX3, may need to be present for people to develop AUD. This research may inform future treatments for each alcohol disorder.
Researchers estimated how common carriers of intermediate and pathological range polyglutamine disease-associated gene variants were among the general population using data from five European studies. The study found that approximately 2% of participants carried intermediate range variants and 1% carried pathological range variants.
Researchers at Scripps Research have developed a potential drug that targets the genetic defect causing myotonic dystrophy type 1, a disease affecting 1 in 2,500 people. The therapy, called Cugamycin, improves muscle defects without harming healthy gene transcripts.
Two new genes, ENAM and ACP4, have been identified as causative variants in canine enamel development defects. The study reveals that these genes are also associated with human enamel development disorders.
Researchers found that autoimmune diseases like Addison's and vitiligo often cluster together due to genetic links. In contrast, celiac disease tends to be less associated with other autoimmune conditions.
Researchers discovered a shared genetic signature among three rare skin diseases, targeting the dermal microenvironment and favoring cancer progression. The study presents new pharmacological targets for treatment, offering a clinical priority to improve patients' lives.
Researchers have identified five common genetic variants that increase the risk of autism, providing a new insight into the biological processes involved. The study also found genetic differences between clinical subgroups of autism and a significant overlap with other mental disorders.
Researchers have identified specific brain cell types, areas and biological processes linked to the genetic risk of insomnia, a major step towards understanding its mechanisms. The study found that over 100 genes contribute to insomnia, with some influencing the functionality of axons and specific cell types in the frontal cortex.
Researchers discovered a precise pathway causing neurodevelopmental disorders, including rare condition Kaufman oculocerebrofacial syndrome. Genetic sequencing revealed the buildup of protein BCKDK in the brain, leading to intellectual disability and speech loss.
A new Tel Aviv University study uses genetically manipulated yeast cells to mimic the pathology and symptoms of congenital metabolic diseases. The innovative platform will allow scientists to screen thousands of drug-like small molecules to identify potential therapies for these devastating diseases.
A study published in The BMJ found that people with the most common genetic disorder in northern Europe are associated with substantially higher levels of disease than previously thought. The faulty genes often lead to serious health problems, including haemochromatosis and liver disease.
Researchers discovered that anxiety-depressive disorder in mice is associated with impaired energy metabolism in the brain, particularly in the hypothalamus and hippocampus. This finding provides a fresh look at the depression development mechanism and other psycho-emotional diseases formation.
Researchers found that enhancers regulate the SOX9 gene, which is critical for male development. The study reveals that disruptions to these enhancers can lead to disorders of sex development.
Researchers have created a sophisticated genomic model that links DNA variations and gene activity to the risk of brain disorders. The model identifies 321 genes associated with schizophrenia, revealing its primary role as a disorder of neurons rather than other brain cells.
A comprehensive genomic analysis of the human brain has revealed new insights into its development, variability, and links to neuropsychiatric illnesses. Researchers found that genetic risk variants can influence brain function early in life and manifest themselves later in distinct groupings.
MeCP2 duplication syndrome, a rare genetic disorder affecting mainly boys, may benefit from new treatments by blocking key protein interactions. Researchers at the University of Edinburgh identified a crucial part of the protein binding to NCoR as responsible for disease symptoms, paving the way for therapies that target this interaction.
Later-born siblings of children with autism spectrum disorder (ASD) or attention-deficit/hyperactivity disorder (ADHD) are at higher risk of developing the same disorder. The study analyzed data from over 15,000 siblings and found that those born after an older child with ASD or ADHD were more likely to be diagnosed with either condition.
A McGill-led research team has developed a computational process to track the transmission histories of rare genetic diseases, tracing CAID back to two European founding families in 17th century Quebec. The researchers hope to extend their search techniques to more common genetically based diseases and identify new genetic variants.
The Camden Opioid Research Initiative will investigate the genetic and biological factors that contribute to opioid use disorder, using a three-pronged approach with biobank samples and studies on chronic pain patients and medication-assisted treatment. The goal is to develop new treatments and prevent overdose deaths in New Jersey.
University of Kent researchers have successfully used IVF embryo breakthrough technology to screen for genetic merit and chromosome disorders in cattle. This innovative approach allows for earlier decision-making on the quality of breeding stock and more efficient delivery of genetically screened embryos to farms.