Articles tagged with Genetic Disorders
Researchers discovered a causal mechanism behind BPTA syndrome by identifying a change in the HMGB1 protein that disrupts cellular self-organization. This disruption leads to developmental disorders and predisposition to cancer, with hundreds of comparable genetic changes associated with various conditions.
Researchers at USC Keck School of Medicine have identified two new avenues for treating diverse forms of ALS by suppressing genes and inhibiting proteins. The findings suggest that targeting SYF2 gene suppression and PIKFYVE kinase inhibition may lead to broadly effective treatments for the disease.
A team of scientists from ETH Zurich has developed a new diagnostic strategy for methylmalonic aciduria (MMA), a rare metabolic disorder affecting approximately one in 90,000 newborns. The approach, which considers genetic, RNA, protein, and metabolomics data, correctly diagnosed 84% of patients examined.
Researchers have solved an 80-year-old medical mystery that causes kidney damage in children and can be fatal in babies. They discovered a gene mutation is the primary cause, but found that around 10% of patients without the mutation still experience symptoms.
In a mouse model of laser-induced CNV, RORα expression was highly increased in the choroidal/RPE complex post-laser, while loss or inhibition of RORα worsened CNV with increased lesion size and vascular leakage. RORα negatively regulates pathological CNV development by modulating angiogenic response and inflammatory environment.
Researchers found that abnormal methylation processes lead to disruption of gene expression essential for brain development in people with Williams syndrome. The study suggests targeting treatments to correct these disruptions.
A study from Japan found that variations in psychiatric diagnoses across different cultures can affect the efficacy of antipsychotics in clinical trials. Researchers analyzed data from 28 double-blind randomized trials and found that psychotic features were associated with varying therapeutic responses to antipsychotic medications.
Researchers identified the molecular mechanism underlying Weiss-Kruszka syndrome, a rare neurodevelopmental disorder characterized by craniofacial anomalies and autistic features. The study reveals that the ZFP462 gene mutation leads to a failure to safeguard neural lineage specification during early embryonic development.
Researchers found that early prenatal alcohol exposure changes gene function and epigenome in placenta and human embryonic stem cells. These changes are associated with altered DNA methylation patterns, particularly in genes linked to nervous system development, such as DPPA4 and FOXP2.
A recent study published in Frontiers in Cell and Developmental Biology has found that the unique checkerboard pattern of cells in the organ of Corti is essential for proper hearing. The researchers discovered that when hair cells adhere to each other abnormally, it leads to apoptosis and a decrease in hair cell numbers, resulting in h...
Researchers discovered that radiation damage to paternal DNA is passed on to offspring through a highly error-prone repair mechanism. This leads to structural changes in the paternal chromosomes and causes developmental defects. Histone proteins play a crucial role in shielding damaged chromosomes from accurate repair.
The special issue highlights innovation across various stakeholders in newborn screening, including researchers, healthcare professionals, and families. Key findings include the development of novel technologies to screen, diagnose, and treat newborns, as well as long-term follow-up studies and NBS expansion.
A recent analysis of Psychiatric Genomics Consortium datasets found genetic correlations between psychiatric disorders differ between European and East Asian populations. Japanese psychiatrists tend to diagnose bipolar disorder less frequently in patients with psychotic features.
Researchers investigate how lung cancers evade the immune system to develop more effective immunotherapy treatments. The study aims to uncover a new way lung cancers disguise themselves from the immune system, potentially leading to improved treatment outcomes.
A Geisinger study of over 90,000 patients confirmed a strong link between genetics and neuropsychiatric disorders. The research revealed that approximately one in 100 participants carried a rare gene variant increasing the risk for conditions like schizophrenia and autism spectrum disorder.
The NIH's All of Us Research Program has returned genetic health-related DNA results to over 155,000 participants, detailing increased risk for specific health conditions and medication processing. Participants can choose to receive tailored reports, including a Hereditary Disease Risk report and a Medicine and Your DNA report.
Researchers from Japan have developed an RNA interference method using antisense oligonucleotides to correct a genetic defect in Fukuyama Muscular Dystrophy. This approach has shown promise in treating patients with the disease, which is characterized by generalized muscle weakness and intellectual disability.
A new study pinpoints the first-ever domestication of cats to nearly 10,000 years ago in the Fertile Crescent region. Genetic analysis reveals that humans' transition from hunter-gatherers to farmers sparked the bond between humans and rodents-eating cats, leading to their migration with humans worldwide.
Researchers have engineered a family of adeno-associated viral vectors that can deliver cargo to the primate brain, offering a safer and more efficient way to treat genetic diseases. The PAL family of AAVs has been shown to be three times better at delivering their cargo into the brain than current leading AAV delivery vehicle AAV9.
A study of 1.5 million children found no association between prenatal benzodiazepine exposure and increased risks of autism spectrum disorder or attention-deficit/hyperactivity disorder. The results challenge current assumptions about maternal benzodiazepine use and neurodevelopmental disorders.
A Rutgers-led study found that a gene mutation associated with autism causes an overstimulation of brain cells, disrupting the normal information flow. The researchers used human stem cells and transplanting them into mouse brains to understand how the mutation affects brain development.
Researchers have developed mini eyes, or organoids, from stem cells donated by patients with Usher syndrome. These mini eyes allow scientists to study light-sensing cells and understand the development of blindness in the disease.
Researchers developed a simple urine test to measure cystic fibrosis severity and assess treatment effects. The test reveals the extent to which new treatments are beneficial, correlating with disease severity and lung function.
Researchers found that deleting a copy of the Arid1b gene in specific brain cells decreased inhibitory signaling, leading to changes in synaptic properties and connectivity. The study suggests that this gene may be a key target for therapeutics in treating autism spectrum disorder.
A fetus with infantile-onset Pompe disease has been successfully treated in utero using enzyme replacement therapy, resulting in normal cardiac and motor function. The child is now thriving as a toddler, meeting developmental milestones after receiving postnatal enzyme therapy at a pediatric hospital.
A new study by UCL researchers found that tailoring whole genome sequencing analysis to individual patients can double the diagnostic rates of rare diseases. The personalised approach increased the diagnostic rate from 16.7% to 31.4%, detecting potential disease-causing variants in a further 3.9% of patients.
Researchers have developed a new gene therapy that selectively targets overactive brain cells, reducing excitability and suppressing seizures in mice. The treatment shows promise for treating neurological disorders such as epilepsy, Parkinson's disease, schizophrenia, and pain disorders.
Researchers discovered a link between reduced protein synthesis and Feingold syndrome type 1, a rare genetic disorder. The study suggests that a nutritional supplement may help reverse this decrease, potentially alleviating intestinal symptoms in patients with the condition.
A Dartmouth study reveals that disruptions in the mTORC1 pathway can rescue neuronal overgrowth and synapse function dysregulated by Pten loss, potentially offering new treatments for autism spectrum disorders. The research team also found that administering Rapamycin to children showed some benefit to symptoms of autism.
Johns Hopkins Medicine researchers have developed a novel genetic engineering approach to deliver gene therapy by utilizing a cell's natural process to
Researchers have developed a pioneering gene editing strategy that can repair faulty genes in immune cells, offering new hope for patients with conditions like CTLA-4 insufficiency. The technique uses CRISPR/Cas9 to target and correct the faulty gene, preserving important regulatory mechanisms.
Researchers discovered that zinc can restore the functioning of proteins affected by mutations in the GNAO1 gene, leading to severe mental and motor disabilities. By reactivating hydrolysis, zinc enables neurons to communicate correctly with their environment.
Researchers investigate how motor proteins transport vital proteins and RNAs to the right location within cells, where they can cause or prevent genetic neurological diseases. By understanding these highly regulated transport systems, scientists hope to develop new treatments for conditions like spinal muscular atrophy and Charcot-Mari...
A University at Buffalo-led study suggests the huntingtin protein is involved in neuronal injury and regeneration. The research found that HTT moves from the injury site to the cell body, carrying components necessary for survival.
Researchers at UCI have made significant progress in precision genome editing for treating inherited retinal diseases, enabling precise gene correction and disease rescue. The study highlights the potential of this technology to revolutionize treatment of genetic disorders of vision, with over 270 causative genes identified.
A new computer program, ExtRaINSIGHT, has been developed to track harmful mutations in the human genome throughout evolution. The study found three regions of the genome that are extremely sensitive to mutations, including splice sites, miRNA molecules, and central nervous system genes.
Researchers found a specific CAPRIN1 gene mutation linked to impaired protein production, leading to autism spectrum disorders, ADHD, language impairments, and muscle weakness. The study also identified similar symptoms in patients with early-onset ataxia and myasthenia.
A phase 3 clinical trial showed tofersen reduces SOD1 and neurofilament light protein levels, slowing down disease progression. Longer-term use may help stabilize muscle strength and control in people with genetic ALS.
A study by Karolinska Institutet found that children with primary immunodeficiency diseases have a higher mortality rate due to COVID-19. Genetic analysis revealed mutations in genes important for immune defense, and some children lacked antibodies to the coronavirus.
A mutation in the TMEM163 zinc transporter gene has been definitively linked to hypomyelinating leukodystrophy, a rare and often fatal neurological disorder. The study's findings provide new insights into the role of zinc in normal brain development, injury, and disease.
A team of scientists has solved the structure of cystinosin and determined how mutations interfere with its normal function. This provides insights into the underlying mechanisms and suggests a way to develop new treatments for the devastating genetic disease.
A new study from Harvard University identifies the genes and genetic sequences that orchestrate the formation of the human pelvis during pregnancy. The research shows that key pelvic features form around 6- to 8-week mark, including a curved and basin-like shape.
A new study published in Cell Reports has identified the molecular pathways responsible for reduced seizures during fasting. The researchers found that amino acid sensing plays a critical role in the beneficial effects of fasting on seizures, suggesting targeted dietary strategies may be effective for patients without DEPDC5 mutations.
Researchers used data from over 400,000 individuals to model genetic and environmental factors influencing common neuropsychiatric disorders. Gene-environment interactions accounted for a significant proportion of variability in some disorders, while others showed more substantial contributions.
Researchers discovered a gene called nervy that helps fruit flies respond to socio-environmental signals to stop fighting. The study's findings have implications for understanding aggression in humans and potentially treating psychiatric disorders like Parkinson's disease.
A new study suggests that low-dose ketamine is generally safe and effective in treating clinical symptoms of children diagnosed with ADNP syndrome, a rare neurodevelopmental disorder. The treatment resulted in improvements in social behavior, attention deficit, and hyperactivity, as well as reduced aggression.
Researchers have developed a novel DNA-based method to identify people at greater genetic risk of developing Alzheimer's disease before symptoms appear. The method uses data on common DNA variants from over 7.1 million individuals and predicts a person's risk of Alzheimer's, depending on which DNA variants they have.
A study found that genetic testing before pregnancy can detect the risk of severe developmental disorders in 44% of cases if parents are related. However, non-hereditary mutations play a larger role in children of non-consanguineous couples, and many genes remain undetected.
Young people with 22q11.2 Deletion Syndrome show distinct brain activity patterns during sleep, which may influence psychiatric symptoms. These differences are associated with altered connections within and between brain areas.
Researchers identified a molecule produced by astrocytes that interferes with normal neuron development in Rett, fragile X and Down syndromes. Blocking this molecule reduces disease signs in mice brains, suggesting potential therapeutics to treat these disorders.
Researchers identified a group of Ashkenazi Jews who fell victim to antisemitic violence during the 12th century, shedding new light on Jewish medical history in Europe. The study suggests that a bottleneck event shaped the modern-day Ashkenazi Jewish population prior to the 12th century, earlier than previously believed.
Children with Down syndrome have a unique preference for food textures, preferring crispy and oily foods over brittle or gooey ones. Researchers found that adding nutritional value to these preferred foods could help improve the children's eating habits and reduce choking incidents.
Researchers at CSU found that a gene called MSH1 helps keep plant mitochondrial genomes mutation-free, allowing for quick sorting of normal and diseased DNA. This process is more efficient in plants than in humans, where mutations are passed down through generations.
Researchers at NIH have developed a 3D structure of the twinkle protein, which helps identify mutations that cause mitochondrial diseases. The discovery could lead to targeted treatments for patients with conditions like progressive external ophthalmoplegia and Perrault syndrome.
Scientists at UC San Diego and Salk Institute discover link between mitochondrial function, inflammation, and DNMT3A and TET2 genes in atherosclerosis. Abnormal inflammatory signaling is triggered by low levels of these genes, leading to excessive plaque buildup.
PubCaseFinder, a clinical decision support system, has been updated to provide more precise phenotyping and automated differential diagnosis. The new version enables users to filter ranked lists using causative genes, modes of inheritance, and disease names, making it easier for medical professionals to diagnose rare and genetic diseases.
A new gene therapy approach using the neuroprotective protein SynCav1 has shown promising results in slowing down ALS disease progression and increasing life span in rodent models. The treatment preserved spinal cord motor neurons and extended longevity in mice, with similar effects observed in a rat model of ALS.
Researchers have identified a novel gene FIBCD1 as likely causative of rare neurodevelopmental disorders. The study found that FIBCD1 is a receptor for ECM 'sugar' components and linked to diseases such as autism, ADHD, schizophrenia, and Alzheimer's.
Researchers found substantial iron deposits in motor circuits of the brain in individuals with high genetic risk for hereditary hemochromatosis, increasing risk for Parkinson's disease and other movement disorders. Males were more affected than females due to natural processes.
Researchers used multimodal adaptive optics imaging to study photoreceptor and retinal pigment epithelium relationships in eyes with vitelliform macular dystrophy. The study provides valuable insights for developing new therapies to treat this rare eye disorder.