Articles tagged with Genetic Disorders
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A hybrid approach combining gene therapy and gene editing successfully treated an experimental model of a rare genetic disease, significantly enhancing survival. The findings could offer hope for children and adults with various inborn errors of metabolism.
Researchers developed a new database of gene essentiality, providing insight into the causes of rare childhood diseases. The study identifies new mutations likely responsible for these conditions and offers a valuable resource for clinicians and researchers.
Hokkaido University scientists have discovered the missing link in a rare hereditary disease that impairs the skin's barrier function. They found that fatty acid transporter member 4 (FATP4) plays a critical role in synthesizing acylceramides, key skin lipids that prevent water loss and protect against pathogens.
A 30-year study details clinical course of 184 individuals with genetically diverse forms of MSUD, showing increased survival and hospitalization rates. Despite advances in care, patients continue to suffer from cognitive and psychiatric disabilities, highlighting the need for safer and more effective disease-modifying interventions.
A young boy with a fatal genetic disease has made a remarkable recovery thanks to a collaborative effort between physicians and immunologists from around the world. The team combined exceptional clinical care, genetic diagnosis, and a novel immunotherapeutic drug to bring the child into full remission.
Researchers at Massachusetts General Hospital have developed a new therapy to alleviate problems caused by dysfunctional mitochondria, which produce energy in cells. The discovery could lead to treatments for rare diseases and age-associated disorders characterized by redox imbalance.
Researchers at UNH have reported the first structural model of PDE6 enzyme and its activating protein, offering clues for new therapeutic interventions to manage retinal diseases. The study's findings could lead to improved treatments for genetically inherited eye diseases like retinitis pigmentosa and night blindness.
A recent study found that clinical whole exome sequencing at major commercial labs inadequately analyzes more than a quarter of genes, affecting the accuracy of genetic disorder diagnoses. The reanalysis revealed stark inconsistencies in gene coverage across different labs, with some testing only 34% of genes.
Researchers have cracked a rare gene variant for a devastating disorder that causes severe neurodegeneration in infants, leading to loss of motor skills and language ability. Targeted B vitamin therapy has been successfully developed to treat the condition.
A new study by Massachusetts General Hospital researchers identified over 100 genetic variants that increase the risk for more than one psychiatric disorder. The study found that many distinct psychiatric diseases share a common genetic structure, with genes producing multiple effects in the body.
Researchers have discovered a common genetic link between autism and Tourette's Syndrome, which impairs brain communication. Ketamine or related drugs may be a useful treatment for both conditions.
Researchers developed Janus bases to target and silence harmful genes in rare genetic diseases. The bivalent nucleic acid recognition platform is being used to create new treatments.
A mutated gene, USP9X, regulates a network of genes underlying Intellectual Disability and Autism Spectrum Disorder. Focusing on this network may lead to therapy developments for neurological disorders.
Northwestern University scientists discovered genetic mutations in the Usp9x gene lead to reduced synapses and increased anxiety in individuals with autism spectrum disorder. This research provides a crucial understanding of the biological basis of intellectual disabilities and mental illness, potentially leading to new treatment options.
Scientists at Case Western Reserve University have identified a critical role for the Cullin 3 gene in brain development, contributing to autism spectrum disorders (ASD) and schizophrenia. The discovery sheds light on the mechanisms underlying these complex conditions, potentially paving the way for new treatments.
A new study has identified a genetic variation in the Mucin 6 gene that may contribute to late-onset Alzheimer disease. The findings suggest a strong association between the genetic variant and the disease, implying a large effect size and opening up possibilities for future therapeutic targets.
A recent animal study found a link between a MAP2 mutation and hereditary hair diseases, such as alopecia and thinning hair. The researchers identified a missense mutation in the MAP2 gene that led to decreased hair follicle density and abnormal hair formation.
Researchers at Children's National Hospital have developed virus-specific T-cells that neutralize six viruses, including CMV and EBV, in patients with primary immune deficiency diseases. The treatment shows promise in preventing and treating multiple viral infections, with partial clinical improvement in critically ill patients.
Researchers developed a gene therapy combining FGF21 and ?Klotho treatments to target multiple age-related diseases. The single-formulation treatment successfully treated obesity, type II diabetes, heart failure, and renal failure in mice.
Gene therapy approaches are being developed to treat a variety of inherited neurometabolic diseases, including X-linked adrenoleukodystrophy and mucopolysaccharidoses. Microglia are emerging key players in these diseases and are targeted for therapeutic efficacy.
A large-scale study implicates 10 new genes in the development of schizophrenia, providing insights into the genetic underpinnings of the disorder. The findings also suggest a connection between schizophrenia and other neurodevelopmental disorders.
A new genomics method, ANEVA-DOT, can identify disease-causing genes in patients with rare muscular dystrophies. The technique compares maternal and paternal allele activity levels across the genome to detect abnormalities.
A new UBC psychology study found that biological siblings of people with gambling disorder exhibit markers of increased impulsivity and risk-taking. The research suggests people with gambling disorder may have pre-existing genetic vulnerabilities to the illness.
Charcot-Marie-Tooth disease causes damage to the peripheral nervous system, affecting balance and motor skills. Researchers found that mutated enzymes take on an unusual shape, leading to unwanted interactions with nearby proteins and potential disease severity.
The Blood and Immune Deficiency-Cellular Therapy Program (BID-CTP) integrates expertise from multiple medical specialties to treat rare blood and immune system diseases. Patients with hundreds of different primary immune deficiency diseases can now receive unified care through a single, multi-specialty team.
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 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.
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.
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.