Articles tagged with Genetic Disorders
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 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.
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.
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 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.
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.
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.
Researchers from Sechenov University found that the absence of cadherin 13 protein affects mice's response to early stress differently than its activation. This discovery sheds light on the genetic basis of neuropsychiatric disorders.
A study published in Nature Neuroscience found that mice with a SETD5 mutation have brains less flexible, leading to difficulties in forming new memories and adapting to situations. The researchers also discovered that the gene cooperates with other proteins to regulate gene expression during learning and memory formation.
A new computer tool has been developed to identify patients with chronic pulmonary embolism (PE) who can be safely treated at home. The tool uses a sensitive cardiac injury marker, troponin, to measure the severity of PE and predict patient outcomes.
A study has discovered that only a small fraction of rare, undiagnosed developmental disorders in the British Isles are caused by recessive genes. The researchers found that five percent of patients had inherited disease-causing gene mutations from both parents, far fewer than previously thought.
Researchers developed a new marker that can accurately detect cardiac injury, reducing the need for costly and invasive stress tests. The test uses high-sensitivity cardiac troponin I (hs-cTnI) assays to measure troponin concentrations lower than conventional assays.
Children's hospitals will use electronic health records and DNA samples to identify genetic markers for severe pediatric growth disorders, enabling early diagnosis and targeted treatments.
A new study found that athletes with a specific gene variant associated with dyslexia were less likely to suffer concussion injuries. The study suggests that the more diffuse wiring of the dyslexic brain may provide neuroprotection against impact injuries.
Researchers have found associations between addiction-related phenotypes and variants in the PTPRD gene, a neuronal cell adhesion molecule. A chemical compound, 7-BIA, has been shown to selectively inhibit phosphatase activity of PTPRD in mice, reducing cocaine self-administration rates.
Researchers have found that a rare gene mutation alters brain development in mice, impairing memory and disrupting communication between nerve cells. Transplanting specific types of nerve cells into the brain improved memory problems in affected mice.
Researchers have identified 102 genes associated with autism spectrum disorder (ASD) through the largest genetic sequencing study to date. This study distinguishes between ASD and intellectual disability, providing valuable insights into the genetics of ASD.
A ground-breaking UK Biobank paper describes the release of whole genome genetic data from 500,000 participants. This will enable researchers to understand the underlying genetics of disease and interactions between genetic and lifestyle factors.
Researchers at Boston Children's Hospital have developed a new method to create customized mouse models for studying the brain. This technique involves using a natural toxin to kill off developing brain cells, allowing scientists to reconstitute the forebrain from genetically engineered stem cells. The resulting mice have tightly contr...
Researchers at ETH Zurich successfully heal genetic disease phenylketonuria in mice using a modified CRISPR/Cas9 system. The technique achieved a high correction rate of up to 60% and restored normal levels of phenylalanine, eliminating the disorder's symptoms.
A new study has found evidence that links dynamin-binding protein (DNMBP) to congenital bilateral cataracts and severe vision loss in infants and children. The researchers discovered mutations in the DNMBP gene on chromosome 10, indicating a recessive disorder common in inbred populations.
A new model is proposed to generate ongoing automated updates for genetic test results, allowing clinicians to better communicate relevant information to patients. This could enable personalized medicine by providing continuous interaction between clinics and labs, reanalysis of changing data, and more accurate diagnoses.
A study published in PNAS has reversed symptoms of Smith-Magenis syndrome in mice by reactivating the RAI1 gene. This breakthrough may lead to new treatments for this neurodevelopmental disorder. Researchers used optogenetic stimulation to restore social interaction deficits, providing hope for improved patient outcomes.
Researchers have discovered new genetic mutations associated with Tourette Disorder, which may disrupt cell polarity and lead to chronic vocal and motor tics. The study's findings provide a deeper understanding of the condition and offer potential insights for developing improved treatments.
Researchers identified a rare genetic disorder in a human patient caused by mutations in the ornithine decarboxylase 1 (ODC1) gene. The disorder is characterized by large birth weight, hair loss, and developmental delays, and may be treatable with the FDA-approved drug DFMO.
Researchers have identified a genetic predisposition to early-onset atrial fibrillation in black and Latino populations. A large registry of patients found that there is a significant family history of AFib in these groups, particularly among younger patients.
A new study finds that individuals with a disease-associated mutation can have vastly different symptoms due to the total amount of rare mutations in their genome. The researchers discovered a correlation between the number of mutations and cognitive development, IQ scores, and head size.
Researchers have successfully tested a medicine that can treat hereditary angioedema by inhibiting the kallikrein enzyme, preventing severe swelling. The daily administration of the drug has been shown to prevent symptoms from developing, offering a new hope for patients suffering from this rare genetic disease.
The study will recruit 400 newborns with a wide variety of possible genetic disorders, comparing whole genome sequencing to targeted genomic sequencing for accuracy and effectiveness. The researchers aim to determine if the targeted panel can be safely integrated into newborn care, eliminating ethical dilemmas and saving healthcare costs.
Researchers discover that autistic disorders are caused by poor maturation of synapses in the reward system, leading to impaired social communication. This finding has significant implications for understanding and treating autism spectrum disorders.
A new study published in Molecular Genetics and Metabolism identified the drug nitisinone as a treatment for alkaptonuria, also known as black bone disease. The treatment significantly reduces the accumulation of homogentisic acid, stopping disease progression and partially reversing ochronosis.
Chinese researchers have improved the adenine base editing (ABE) system to generate mouse or rat models for human genetic disorders, such as DMD and Pompe disease. The ABE system allows for efficient alteration of genetic codes with minimal undesired outcomes, making it a promising technology for therapeutic applications.
A new genetic link has been found between the gene IRF2BPL and a previously undiagnosed neurological disorder characterized by progressive neurodevelopmental regression. Mutations in IRF2BPL were identified in seven individuals, including five with severe symptoms and two with milder characteristics.
Researchers have made significant breakthroughs in treating hereditary angioedema with the new drug BCX7353. The medication has been shown to significantly reduce attack frequency and improve quality of life by up to 75% compared to placebo, offering a convenient oral administration without severe side effects.
A study by St. Jude Children's Research Hospital and UCSF identified germline mutations in the genes SAMD9 or SAMD9L as responsible for a rare bone marrow disorder, myelodysplasia and leukemia syndrome with monosomy 7. The research found that some children with these mutations can spontaneously recover normal bone marrow function witho...
Researchers have discovered a second-generation drug that can silence the gene responsible for inherited ALS by injecting it into rodents. The new version of the drug is more effective at reducing SOD1 protein production and delaying disease progression. It may be ready for early-stage clinical trials.
Researchers at George Washington University are investigating the CC2D1A gene's role in making males more susceptible to autism than females. The study aims to identify molecular mechanisms underlying this disparity and potentially develop sex-specific therapies.
Professor Stephen Robertson's research team identified the cause of Recessive Spondylocarpotarsal Synostosis Syndrome, a condition resulting in bone fusion. Genome sequencing revealed multiple genes implicated in the disorder, offering diagnostic and therapeutic options.
A study on Rett syndrome found that small molecule inhibitors reactivated the inactive X-linked MECP2 gene, rectifying morphological defects in human induced pluripotent stem cell-derived neurons. The treatment has potential therapeutic applications for the neurodevelopmental disorder.