Articles tagged with Genetic Disorders
A study published in EBiomedicine reveals a genetic link between the HLA-G gene and preeclampsia. The researchers found that certain alternative forms of the HLA-G gene are connected to the male-to-female ratio at birth, fetal survival, and pregnancy complications.
A new study by Penn State researchers reveals that genetic deletions linked to neurodevelopmental disorders affect not only brain development but also other parts of the body. The findings suggest that these deletions can cause defects in multiple organ systems, including heart, kidney, and skeletal structures.
Researchers identified mutations in the CNOT1 gene that affect brain development and impair memory and learning, suggesting potential therapeutic benefits. The study also revealed interactions between CNOT1 and known autism spectrum disorder genes, paving the way for further research.
Scientists have identified a key mechanism in X chromosome inactivation that may lead to treatments for rare congenital disorders and certain cancers. By understanding how this mechanism works, researchers hope to develop novel medicines for diseases like Rett syndrome.
RCSI researchers have found a potential new way to promote blood clotting that could be used to treat the most common genetic bleeding disorder, Von Willebrand Disease. A modified molecule has been shown to extend the life of the clotting protein within the body's circulation, significantly increasing its half-life fivefold.
Researchers used a new genetic engineering technique, known as base editing, to repair a single mutation in the Tmc1 gene, restoring partial hearing in mice. The technique has potential for treating other genetic forms of hearing loss and diseases.
A recent study identifies two genes, SNRNP35 and ZNF140, that may affect PTSD susceptibility. Individuals with PTSD tend to have lower expression of SNRNP35 in the brain and higher expression of ZNF140 in the blood. This research could lead to new treatment and prevention strategies for PTSD.
A team of researchers led by Jung-Bum Shin identified Myosin-VIIa as a crucial protein in maintaining proper tension in hair cell mechanoreceptors, enabling sound detection. The discovery sheds light on the biological architecture of hearing and may lead to new treatments for hearing loss.
A study analyzing data from the Rhode Island Consortium for Autism Research and Treatment found that only 3% of individuals diagnosed with autism spectrum disorder reported having fully received clinical genetic tests recommended by medical professional societies. The study reveals a dissonance between professional recommendations and ...
A team of Emory scientists compared the most common inherited form of amyotrophic lateral sclerosis and frontotemporal dementia with spinocerebellar ataxia type 36. They discovered that protein products can poison cells in one disease but not the other, providing new insights into their pathological mechanisms.
A new hereditary disease, FACAS, has been discovered that causes a cold-induced urticarial rash in patients exposed to temperatures below 15°C. The researchers found that the disorder is caused by a previously unknown mutation in the 'Factor 12' gene.
A recent study has found a correlation between paternal age and the development of neurodevelopmental disorders in children. The research, published in PLOS ONE, suggests that older fathers may pass on epigenetic markers that increase the risk of conditions such as autism and ADHD.
Research implicates ACTL6B gene absence in six families with recessive autism. Altered transcriptional repression and neural circuitry defects suggest conserved function and potential for autism research.
Researchers at Oregon Health & Science University developed a synthetic molecule that targets and corrects a mutated gene causing Usher syndrome in mice. The technique may be used to deliver drug therapy through amniotic fluid to the fetus, potentially treating and preventing several types of congenital hearing and balance disorders.
Girls with autism spectrum disorder (ASD) exhibit distinct brain activity patterns, including motor and striatal underactivation to social stimuli, and larger rare copy number variants affecting those regions. Typically developing girls show executive engagement when viewing social stimuli, suggesting resilience to autism.
Researchers are studying gene transcription in blood of patients undergoing buprenorphine treatment to understand its therapeutic effects. The study aims to identify key genes and their association with clinical results, potentially leading to new treatments for opioid use disorder.
A new neurodegenerative disorder has been discovered in children, characterized by developmental regression and severe epilepsy. The disorder is caused by a variation in the NRROS gene and appears to require two copies of the defective gene.
A recent study has identified the RAB39b gene as a critical regulator of early brain development, with mutations leading to macrocephaly and autism spectrum disorder. The research used mouse models and human brain organoids to demonstrate how this gene disrupts neural progenitor cell growth and differentiation.
A new genetic map of psychiatric disorders has been completed by an international study involving 230,000 patients worldwide. The research identified 109 genetic variants associated with eight psychiatric disorders, including autism, ADHD, and schizophrenia.
Researchers created H-MAGMA, a computational tool that links non-coding genetic variants to their target genes in brain disorders. The study found that genes associated with psychiatric disorders are typically expressed early in life, while neurodegenerative disorder-associated genes are expressed later.
OCU400, a novel gene therapy product candidate, demonstrates efficacy in rescuing photoreceptors from degeneration by resetting retinal homeostasis. The treatment has the potential to be broadly effective across genetically diverse IRDs, offering hope for millions of people worldwide affected by inherited retinal degenerations.
Researchers at Kyoto University have designed a new compound that can bind to DNA and activate genes, which could lead to new treatments for cancers and hereditary diseases. The compound, called ePIP-HoGu, targets specific DNA sequences and recruits gene-modifying molecules.
A team of researchers has identified a membrane-associated protein crucial for human T-cell development and immune function. The study, published in Nature Communications, sheds light on the molecular mechanisms underlying rare genetic diseases that cause severe immune deficiencies.
A new model of chromosome X-linked adrenoleukodystrophy in C. elegans has been identified, accelerating research on the disease and its potential pharmacological targets. The model points to glial cells as responsible for neurological damage, with oxidative stress caused by mitochondria being a major cause.
The University of Utah Health is launching a project that uses rapid whole genome sequencing to identify genetic disorders in newborns, aiming to cut diagnosis time to 72 hours or less. The goal is to personalize treatment and improve outcomes for critically ill infants with genetic-related diseases.
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 CRISPR gene-editing technique that prevented genetic liver disease in mice by introducing a 'minigene' that expresses the enzyme ornithine transcarbamylase. The approach showed promise for treating rare metabolic disorders and other hereditary diseases.
Researchers delivered an ALDH2 gene to mice with the deficiency, using a virus-mediated approach. The treated mice showed no signs of the acute abnormalities or chronic disorders normally associated with ethanol exposure in ALDH2 deficiency.
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.
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.
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.
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.