Articles tagged with Genetic Disorders
A research team identified two different RAD50 variants in a patient with progressive bone marrow failure and immunodeficiency, leading to loss of function of the MRN complex. The findings suggest that RAD50 deficiency/Nijmegen breakage syndrome-like disorder is characterized by growth retardation and microcephaly.
The study demonstrates that concurrent DNA and RNA sequencing improves the detection of novel variants in individuals undergoing hereditary cancer testing, expanding identification of those with hereditary cancer predisposition. This advancement enables personalized therapeutics and surveillance for these individuals.
A new study validates Low-Pass Genome Sequencing (LP GS) as a robust and cost-effective alternative to Chromosomal Microarray Analysis (CMA) for prenatal diagnosis. LP GS detects six additional Copy Number Variations (CNVs) in cases with negative CMA results, highlighting the importance of sequencing depth in its detection sensitivity.
A Geisinger Health System study found that genomic screening for hereditary hemochromatosis type 1 can identify underdiagnosed cases and encourage treatment. The screening program resulted in 69% of those notified proceeding with a lab test, and 69% of those showing iron overload beginning subsequent treatment.
Researchers have developed a novel approach, REVeRT, to efficiently transport large genes using dual AAV vectors at the transcript level. This new method offers increased efficiency, fewer side effects, and greater flexibility compared to existing strategies.
A novel procedure using a refined technique and narrower tube has reduced the risk of transmitting mitochondrial disease during assisted reproduction. The study found that the new protocol resulted in normal development of embryos and healthy offspring, with minimal transfer of maternal mitochondria to the offspring.
USC is partnering with seven leading regenerative medicine institutes to form the Los Angeles and surrounding area regenerative medicine consortium. The partnership aims to advance regenerative medicine using stem cells and gene therapies for treating unmet medical needs.
Researchers discovered a synthetic plant biology approach to prevent protein aggregation in human cells and nematodes, using the plant enzyme stromal processing peptidase (SPP) derived from chloroplasts. This finding opens the door to testing SPP as a potential therapy for Huntington's disease.
A new CRISPR-based gene-editing tool, AsCas12f, has been developed with enhanced editing ability and compact size. The engineered enzyme has already shown success in animal trials and holds promise for improved treatments of genetic disorders.
Researchers at Osaka University have developed a new gene editing technique called NICER, which significantly reduces off-target mutations compared to traditional CRISPR/Cas9 methods. This novel approach uses multiple small cuts in DNA strands and promotes interhomolog homologous recombination to correct heterozygous mutations.
A recent study found that gene panel sequencing as a first-tier screening test detected 2.7% of infants, with 50.4% diagnosed correctly. This alternative method identified undiagnosed cases in 1 out of every 500 newborns and showed promise for reducing false positives.
A study by researchers at the University of Tokyo found that the presynaptic Ube3a E3 ligase molecule plays a key role in eliminating neural synapses. This discovery offers insights into developmental disorders such as Angelman syndrome and autism spectrum disorders.
A phase 2 study of idrevloride in hypertonic saline has shown significant improvement in lung function for individuals with primary ciliary dyskinesia. The treatment, an epithelial sodium channel blocker, is safe and well-tolerated, offering hope for newly developed treatments for the rare disease.
A new technology has identified a genetic abnormality causing xeroderma pigmentosum (XP)-F, a skin disorder. The technique effectively reversed many cellular phenotypes associated with XP and may be effective for genetic treatments of other diseases.
Researchers at Van Andel Institute have identified a key part of a mechanism that annotates genetic information before it is passed from fathers to their offspring. The findings shed new light on genomic imprinting, a fundamental biological process linked to diseases such as Silver-Russell syndrome and certain cancers.
Researchers developed a new model of hereditary Alzheimer's disease in marmosets by introducing mutations into the PSEN1 gene, which causes early-onset disease in humans. The study aims to characterize and validate genetic, molecular, functional, and cognitive features of aging and Alzheimer's disease in these animals.
A massive genetic study has identified specific DNA changes that increase the risk of developing epilepsy. The research found 26 distinct areas in our DNA involved in epilepsy and proposed alternative drugs targeting these genes. The findings may inform better diagnosis, classification, and treatment strategies for epilepsy.
The WVU team evaluated Code Interpreter's features, finding it accessible to students but limited for scientists working with biological data. The plugin breaks down barriers for coding, but lacks internet access and parallel processing capabilities.
A recent NIH-supported study found a significant association between a genetic variant in people of African ancestry and an increased risk of developing Parkinson's disease. The variant, in the GBA1 gene, is associated with a higher risk of 3.5 times for those carrying two copies.
Researchers have uncovered how aberrant nucleoside storage in lysosomes leads to constitutive activation of TLR7 and TLR8, driving histiocytosis in SLC29A3 disorders. The study suggests that TLR7/8 stress response is a key player in the condition's pathogenesis.
Scientists have discovered an additional source of genetic mutations that cause rare conditions like Huntington's disease. Expanded CAG repeat RNA can form aggregates that reduce global protein synthesis and lead to neurotoxicity.
Researchers found seven potential genes linked to increased autism risk, including rare inherited variations and polygenic scores. Children with language delays had a higher likelihood of inheriting these genes, suggesting a link between genetic risk and language delay.
A new multi-center study found that having a genetic variant in the prealbumin gene alone is not sufficient for diagnosing transthyretin amyloid cardiomyopathy in older Black patients. Researchers suggest that a blood test measuring prealbumin levels may be useful in identifying patients at risk of developing cardiac amyloidosis.
Researchers from IU School of Medicine have diagnosed a Sumatran Orangutan named Mila at the Indianapolis Zoo with Alkaptonuria, a rare autosomal recessive disorder. The diagnosis was confirmed through molecular analysis of DNA, providing veterinarians with crucial information on Mila's health and treatment options.
Researchers are studying the characteristics of fragile X-associated tremor ataxia syndrome (FXTAS), aiming to develop treatments for this debilitating condition. The study focuses on understanding the phenotype of FXTAS, including its progression and impact on males and females.
A study published in Alcohol: Clinical and Experimental Research found that a group of genes involved in neuronal plasticity and pain perception are also associated with alcohol use disorder (AUD) risk. These genes work together to influence neural communication, leading to changes in brain function that can contribute to AUDs.
Scientists have teamed up to improve drug delivery by designing more effective lipid nanoparticles. Their latest study documents how high-throughput workflows can produce and characterize LNPs at record speed, with neatly ordered structures leading to better silencing of faulty genes in human neurons.
Researchers at UCLA Jonsson Comprehensive Cancer Center confirmed genetic variants of unknown significance are verified mutations that increase the risk of kidney cancer. The findings could lead to new treatment options for people with hereditary leiomyomatosis and renal cell cancer (HLRCC).
Research by Professor Björn Schumacher investigates the role of male germ cells in genetic mutations. The study suggests that paternal DNA damage can lead to faulty repairs in the genome, resulting in structural variants.
A new national study found whole genome sequencing to be nearly twice as effective as a targeted gene sequencing test at identifying genetic disorders in newborns and infants. The targeted panel missed 40% of diagnoses that WGS captured, while also revealing 134 new genetic diagnoses.
Children with mitochondrial disorders have a weaker and less diverse antibody response to viral infections due to altered B cell function. The study provides insights into how immune cells differ in these patients and how this affects their response to infections.
A new study from Aarhus University has found that applying AI predictions of protein structures enhances the CRISPR technology, making the cuts in a patient's DNA more precise. This discovery may lead to better treatments for patients with genetic disorders and potentially develop cures for various genetic diseases.
Researchers have discovered that gene editing technologies may introduce unintended mutations and damage to DNA in early human embryos. The study found that most cells repair breaks in the DNA using non-homologous end joining, which can lead to additional genetic abnormalities.
The American College of Medical Genetics and Genomics has released its updated Secondary Findings Gene List (SF v3.2) with three new cardiovascular genes added, including CALM1, CALM2, and CALM3. The list provides guidance on reporting incidental findings in clinical exome and genome sequencing.
Patients with GATA2 deficiency have impaired ability to produce immune cells, leading to increased risk of recurrent infections and blood cancers. The study's findings suggest that a zebrafish model may help develop new treatments to slow or reverse the disease.
Researchers at Tel Aviv University have developed an innovative gene therapy that shows promise in treating Dravet syndrome, a severe developmental epilepsy affecting children. The treatment was found to be effective in improving epilepsy, protecting against early death, and enhancing cognitive abilities.
Researchers identified a rare genetic defect in the DOCK11 gene causing abnormalities in white and red blood cells, leading to inflammation and immune system dysregulation. The defect also affects T cell activation, with potential connections to tumor diseases.
A plant-based, oral delivery of proinsulin regulated blood sugar within 15 minutes similar to naturally secreted insulin in diabetic mice. This method eliminates the need for expensive laboratory equipment and results in a shelf-stable product, making it more affordable and accessible.
Research identified three genetic risk factors for Dupuytren's contracture, a condition affecting fingers, that originated from Neanderthal DNA. The study, based on 7,871 affected individuals and 645,880 healthy controls, provides evidence of the intermingling between Neanderthals and modern humans influencing disease prevalence.
Researchers created a detailed snapshot of the structure of human cilia using advanced microscopy and artificial intelligence techniques. The study found that key elements of the axoneme structure are missing in people with primary ciliary dyskinesia, leading to defective cilia and breathing difficulties.
Researchers at Niigata University developed a machine-learning model to predict the age of onset for spinocerebellar degeneration diseases like SCA3 and DRPLA. The model achieved higher prediction accuracy than traditional parametric survival analyses, making it a valuable tool for genetic counseling.
Researchers developed MOVA to evaluate the pathogenicity of missense variants based on their structural position. The new method showed superior performance in predicting pathogenicity, especially for hotspot mutations in ALS-causing genes like TARDBP and FUS.
Researchers developed Eye2Gene, an AI system that accurately identifies genetic causes of inherited retinal diseases from retinal scans. The system achieved higher accuracy than human experts in identifying causative genes, with a ranking score above 70% in over 70% of cases.
Indiana University School of Medicine researchers will investigate muscle-directed gene therapies and test alternative treatment options for degenerative disorders like Duchenne muscular dystrophy. The goal is to develop more successful and long-term ways to help patients living with muscle disorders.
Researchers found that only 6.8% of cancer patients underwent genetic testing within two years of diagnosis, with lower rates among Black, Hispanic, and Asian patients. The low rates are attributed to lack of integration of test results into cancer management and prevention.
Researchers found a link between bipolar disorder and potentially pathogenic mosaic mutations in genes associated with developmental disorders and autism spectrum disorder. Mosaic variants were also discovered in mitochondrial tRNA genes of patients with BD, suggesting a compromised contribution to the disease's molecular mechanisms.
Researchers found that a mutated PDE3A gene prevents kidney damage despite severe hypertension. The study suggests that this mutation could be used therapeutically to prevent chronic kidney disease.
A new study found that obstructive sleep apnea causes widespread changes in gene activity in mice, affecting up to 16% of genes, particularly in lung tissue. The findings may lead to diagnostic and therapeutic approaches, including blood tests tracking dysregulated gene products.
A new study maps French Canadian populations using a unique dataset of over five million records spanning 400 years, revealing the complex relationship between human migration and genetic variation. The research shows that the genetic structure of French Canadians is encoded within its genealogy.
Researchers found that individuals with only one defective allele can suffer from life-threatening diseases, challenging the assumption that defects in one allele are asymptomatic. The study highlights the importance of considering haploinsufficiency, where a single functioning gene is insufficient to prevent disease.
Gene therapy is being tested for rare skeletal dysplasia, affecting 1 in 200,000. Patients will receive a one-time infusion of viral vector containing correct gene sequence.
The Human Pangenome Reference Consortium expands and updates the human genome project with nearly full genomic data from 47 people of diverse ancestry. Researchers at UW Medicine made significant contributions to drafting the pangenome reference and studying variation within repetitive DNA, which could improve equity in human genome re...
The study identifies two patients with a novel neurodevelopmental disorder linked to MRTFB gene variants, which disrupt the protein's ability to regulate other genes. The mutations result in altered wing development in fruit flies and are associated with intellectual disability, difficulty speaking, and other symptoms.
A new study finds that one-time genomic screening of adults aged 20-60 for hereditary breast and ovarian cancer syndrome, Lynch syndrome, and familial hypercholesterolemia is cost-effective based on quality-adjusted life-year measures. The study suggests that this approach could improve disease management and reduce healthcare costs.
Researchers found that solriamfetol, armodafinil–modafinil, and pitolisant reduce excessive daytime sleepiness in patients with obstructive sleep apnea already using conventional therapy. However, patients may be more likely to discontinue the use of these medications due to adverse events including headache, anxiety, and insomnia.
A new study led by Mass General Brigham researchers found that 88% of rare disease experts agree on the benefits of genomic sequencing in newborn screening. The experts recommended screening for over 600 genetic conditions, including those associated with hemophilia and retinoblastoma.
A team of researchers from UNIGE and Beihang University has identified the FOXI3 gene as responsible for one form of Goldenhar syndrome, a rare congenital disorder. Pathogenic variants in both copies of the FOXI3 gene are necessary for the disease to develop, following an autosomal recessive inheritance pattern.
A new study reveals delayed diagnosis of HoFH leads to premature cardiovascular disease, highlighting the need for increased lipid screening and aggressive treatment. Despite available therapies, most patients require further lipid-lowering treatments.
A study published in Clinical Pharmacology & Therapeutics has identified six single nucleotide polymorphisms associated with opioid use disorder. The findings suggest that genetics play a role in the development of OUD, but environmental factors also contribute to its progression.
A molecular autopsy revealed that a young child with mild COVID-19 symptoms died from cardiac arrest due to an atypical coronary artery anomaly and underlying Noonan syndrome, a rare genetic disorder.