Articles tagged with Genetic Disorders
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Researchers have created brain organoids from people with 16p11.2 genomic variations, which exhibit differences in brain size seen in individuals with autism spectrum disorder. The study revealed new information about molecular mechanisms that malfunction when this region is disrupted, providing opportunities for therapeutic intervention.
The Virtual NBSTRN Newborn Screening Summit brought together innovators to expand newborn screening research. The event showcased advancements in technology, advocacy, and clinical care for genetic disease detection, highlighting the importance of collaborations between researchers, healthcare professionals, families, and advocacy groups.
Researchers found a mutation in ELOVL4 enzyme impairs communication between neurons, leading to impaired motor control and coordination. The study provides new insights into the essential role of ELOVL4 in motor function and synaptic plasticity, suggesting potential therapeutic strategies for patients with spinocerebellar ataxia.
The Newborn Screening Translational Research Network (NBSTRN) has launched a new podcast called Newborn Screening SPOTlight, which shares stories of how newborn screening research saves lives every day. The podcast is co-hosted by Drs. Amy Brower and Kee Chan and features interviews with experts in the field.
Researchers identified a genetic mutation in nonhuman primates that closely resembles Pelizaeus-Merzbacher disease, a rare and progressive disorder affecting the central nervous system. The discovery was made possible by a massive genomic database built at OHSU's Oregon National Primate Research Center.
Researchers at the University of Oregon used CRISPR-Cas9 gene editing to target a specific mutation causing Fuchs' corneal dystrophy, preserving endothelial cell density and function. The study lays the groundwork for future research on using this technique to treat genetic disorders in post-mitotic cells.
A human variant of the SUV39H2 gene has been linked to autism spectrum disorders, causing cognitive inflexibility in mice and misregulated expression of genes related to brain development. The study suggests that histone methylation plays a crucial role in regulating gene expression, and its absence may lead to serious problems.
Researchers at TMDU discovered a novel disorder resulting from a mutation in the AIOLOS protein, which causes immune deficiency and interferes with IKAROS protein function. The study found that the mutant protein forms a heterodimer with IKAROS, recruiting it to incorrect regions of the genome and leading to immunodeficiency.
Researchers found that chlorpyrifos, a common pesticide, amplifies the effect of CHD8 gene mutations, leading to reduced protein levels in brain organoids. This study highlights the potential role of genetic and environmental interactions in autism spectrum disorder.
A novel gene therapy method has shown dramatic improvement in symptoms, motor function, and quality of life for children with AADC deficiency. The treatment involves introducing a benign virus programmed with specific DNA into precisely targeted areas of the brain.
Researchers at Mayo Clinic have discovered a single-gene cause of a neurodevelopmental disorder, identifying 28 unique variants in the SPTBN1 gene. The study provides hope for diagnosis and potential treatment for affected individuals.
Researchers found similar circuit malfunctions in the thalamus of mice with genes mutated for autism and schizophrenia. This discovery could lead to developing drugs targeting this circuit to treat people with different disorders.
Researchers found 556 novel markers of colorectal tumors with microsatellite instability, which are differentially expressed genes. These markers were identified by incorporating cell composition into their regression model, indicating a potential role in disease prognosis.
Researchers have linked specific genes to obsessive-compulsive disorder (OCD) using genome-wide analysis, pointing toward novel avenues for treatment. The study identified a strong correlation between OCD and rare mutations in genes such as SLITRK5.
A study by Nagoya University researchers reveals that cohesin's ring needs to open for certain processes, like DNA replication and chromosome segregation. This opening facilitates the progressive replication of the DNA double helix and allows DNA looping, crucial for regulating gene expression.
A team of researchers at the University of Maryland School of Medicine has identified a new gene, AP1G1, that is associated with neurodevelopmental disorders and intellectual disabilities. The gene plays a crucial role in transporting essential materials within brain cells, and its disruption can lead to significant developmental delays.
A new genetic cause, unrelated to OI, has been identified as causing infantile fractures in a child with EDS hypermobility type. The discovery may help prevent misdiagnosis of non-accidental trauma and improve treatment options for children with this condition.
Researchers at UIC's Center for Alcohol Research in Epigenetics have discovered a key regulator of gene expression and anhedonia during alcohol withdrawal. Blocking STAT3 activity alleviates withdrawal-induced depression in rats, and similar results are seen in human postmortem hippocampus samples of individuals with alcohol use disorder.
A recent study has found a possible link between prostate cancer and schizophrenia, with certain gene polymorphisms correlated to disease prognosis. Polymorphisms in genes controlling neurotransmitter metabolism were studied in patients with prostate cancer, revealing a potential protective effect against schizophrenia-like symptoms.
Researchers at Vanderbilt University Medical Center identified a common mechanism underlying a spectrum of brain disorders caused by variations in the SLC6A1 gene. Boosting transporter function via genetic or pharmacological means may be beneficial in treating these disorders.
Scientists at Oxford Brookes University have identified specific genes linked to developmental coordination disorder (DCD), also known as dyspraxia. The study suggests that genetics studies can unravel the underlying biology of DCD, leading to improved diagnosis and treatment.
Researchers have identified a new gene mutation responsible for non-familial cerebral cavernous malformation cases. The MAP3K3 c.1323C>G mutation is found in almost all patients with type II CCM lesions, allowing for potential targeted treatment without surgery.
New national screening guidelines from the U.S. Preventive Services Task Force recommend that regular screenings begin at age 45 for Americans without symptoms or high-risk factors. The updated guideline aims to detect colorectal cancer earlier and improve treatment outcomes, particularly among younger adults.
University of Houston researcher Beau Alward aims to use African cichlid fish Astatotilapia burtoni to study social disorders like autism. He plans to utilize CRISPR/Cas9 gene editing to create a genetic model of social dysfunction, allowing for a more precise understanding of genes involved.
Researchers at Vanderbilt University Medical Center developed a predictive model to identify patients who may benefit from genetic testing based on routine information in electronic health records. The model accurately classified over 87% of cases and 96% of controls, and identified potential patients with rare undiagnosed diseases.
The Treatabolome project is an EU initiative that seeks to deliver rare disease and gene-specific treatment information to healthcare professionals. Systematic reviews on various rare neurological disorders are now available, providing a foundation for the platform's database.
A study led by Genevieve Konopka and Bradley C. Lega found significant differences in gene activity between the anterior and posterior portions of the hippocampus, with genes associated with mood disorders active in the anterior portion and cognitive disorders in the posterior portion.
Researchers found that the defective Cullin 3 gene leads to increased levels of Plastin 3, causing neurons to migrate slower and accumulating in the cortex. This study provides new insights into the mechanisms underlying autism spectrum disorder and may pave the way for therapeutic treatments.
Finnish researchers have identified the LOXHD1 gene as the cause of nonsyndromic early-onset hereditary canine hearing loss in Rottweilers. The study's findings have implications for breeding practices, allowing dogs to be tested for the defective gene and preventing deafness in puppies.
Researchers used base editing to introduce a single point mutation in the PCSK9 gene, reducing LDL cholesterol levels by up to two-thirds. This precision technology holds promise for treating inherited metabolic liver diseases.
Researchers have discovered new genetic variants responsible for neurodevelopmental disorders, including intellectual disabilities and developmental delays. These variants affect chromatin remodeling genes, leading to abnormalities in brain function and development.
Researchers identified a new genetic mutation causing progressive muscle damage, shedding light on the function of over 4,000 genes associated with hereditary diseases. The study's findings provide crucial insights into the development of muscle cells and their ability to recover.
Researchers at INRS discovered a compound that alleviates some neurological symptoms of CHARGE syndrome, a rare genetic disorder affecting 1 in 10,000 newborns. The treatment targets GABAergic neurons and shows therapeutic effects on both neurological and behavioral symptoms.
A recent study conducted at the University of Helsinki found that the risk of intellectual disability in younger siblings is low. The study utilized exome sequencing to determine the genetic background of developmental disorders and identified 9 new candidate genes, including 1 potentially novel gene enriched in the Finnish population.
A novel genetic mitochondrial disorder has been identified in seven patients with biallelic variants in the LIG3 gene. The mutation leads to reduced LIG3 protein levels, diminished ligase activity, and consequent deficits in mitochondrial DNA maintenance.
Researchers found that damage to the autism-associated gene Dyrk1a leads to abnormal growth-factor signaling, undergrowth of neurons and brain, and eventually autism-like behaviors in mice. An existing drug, a growth hormone, restored normal brain growth in the affected mice.
Researchers created a zebrafish model to study pseudoxanthoma elasticum (PXE), a rare genetic disease causing calcification in the retina and vascular system. The new model provides insights into the disease's mechanisms and identifies potential drug targets.
An international team found a strong genetic link between the shape of our face and brain, with 76 overlapping locations. However, this connection does not predict behavioral traits or risk of conditions like Alzheimer's disease.
Researchers at University of Wisconsin-Madison discovered a disrupted Akt protein pathway in men with bipolar disorder, leading to memory problems and weakened brain connections. The findings offer a new target for treating bipolar disorder's often-overlooked cognitive impairments.
Researchers identify a new genetic disease causing delayed intellectual development and cataracts in children, with the COPB1 gene variant as the underlying cause. The study uses tadpoles to mimic human gene variants, demonstrating the link between the gene and disease.
A new study identifies gene variants that cause a metabolic deficiency in the eye, linking it to a rare eye disease called macular telangiectasia type 2. The research found that most patients have a serine deficiency that leads to toxic lipid accumulation, causing damage to retinal cells.
Researchers found that certain genes in inflammatory cells called glial cells increased their activity and grew longer appendages after death. This discovery challenges current understanding of post-mortem gene expression and cell activity, which may impact research on disorders like autism, schizophrenia, and Alzheimer's disease.
A new study reveals how proteins alter X chromosome architecture, contributing to its inactivation and potentially leading to cures for genetic disorders. The findings suggest that the shape and structure of the X chromosome play a vital role in gene silencing.
A single letter difference in a gene leads to sickle cell disease affecting 20 million worldwide, with varying life expectancy depending on social and environmental factors. A new review calls for integrative studies to better understand the disease globally and develop locally-appropriate interventions.
A new high-throughput biological assay technique has been developed to systematically analyze the impact of nearly 100,000 genetic variants on transcription factor binding to DNA. The study found that noncoding genetic variant rs7118999 can affect DNA binding with a transcription factor, regulating blood lipid levels in type 2 diabetes.
A recent study has identified a novel gene, POU1F1, associated with a development disorder of pituitary origin in Karelian Bear Dogs. The research found that the disease is inherited recessively and can be diagnosed using a gene test, paving the way for its eradication from the breed.
Researchers at Penn Medicine found that genetically manipulating a fly's Imitation SWItch/SNF (ISWI) gene led to marked sleep disturbances, memory problems, and social dysfunction. The study suggests that targeting sleep may improve symptoms in children with neurodevelopmental disorders
Researchers have identified a brain enzyme that activates dormant neural stem cells, enabling them to proliferate and generate new neurons. The study found that the enzyme Pr-set7 plays a crucial role in maintaining genome stability and regulating cell cycle, leading to reactivation of neural stem cells.
Researchers found modest differences in gene expression between individuals with a mental disorder and those without, but more pronounced differences in transcript levels. The study identifies specific transcripts associated with each disorder, providing insights into their distinctness and potential treatment responses.
A new study by UC San Francisco and UC Berkeley scientists has identified a crucial biological link between autism risk genes and the process of prenatal neurogenesis. The research also highlights the protective role of estrogen in preventing disruption to this process, which can steer the brain on a normal course of development.
Researchers discovered a strong link between genetic changes and cerebral palsy, which often co-occurs with other neurodevelopmental disorders. The study identified disease-causing changes in 229 genes, decreasing the risk of recurrence for future children born to affected parents.
Researchers discovered that three patients with DOCK8 deficiency spontaneously repaired their faulty genes through somatic reversion, restoring normal immune function. This breakthrough has implications for future therapies and treatments for the often-fatal disease.
A rare genetic syndrome caused by mutations in the gene SATB1 has been identified, characterized by neurodevelopmental delay, intellectual disability, and muscle tone abnormalities. Variations in the gene lead to different levels of protein activity, resulting in varying symptoms and severity.
A recent study analyzing over 250,000 genomes identifies genetic similarities between PTSD and other mental health disorders, including anxiety and bipolar disorder. The research also suggests that certain medications used for other conditions may be effective in treating individual symptoms of multiple disorders.
A recent study found 18 specific gene loci linked to PTSD, providing potential new targets for treatment. The research validated the disorder's underlying biology and genetic overlap between symptoms.
Research suggests that primary care physicians play a smaller role in high-value spending than previously thought, with most PCPs contributing less than 9% of low-value spending per patient. Genetic testing is also limited in predicting disease in healthy individuals, highlighting the need for caution in its use as a preventive tool.
The Marlene and Spencer Hays Foundation has awarded COMBINEDBrain a $68,000 grant to support the development of treatments for rare genetic neurodevelopmental disorders. The consortium of patient advocacy groups, researchers, and clinicians will use the funding to prepare for clinical trials and bring in more researchers.
Research identifies two causal genes, CHD3 and CHD8, contributing to Chiari 1 malformation. Children with unusually large heads are four times more likely to be diagnosed with the condition. The study's findings may lead to new ways to identify people at risk before serious symptoms arise.
A study published in Science Translational Medicine shows that MEK inhibitors can stimulate PAX6 expression in the eye of mice with aniridia, partially normalizing their eye development. Researchers also found that topical administration of the drug enhanced PAX6 and cleared corneas, allowing mice to see better.
Scientists have discovered 17 genetic abnormalities that cause brain aneurysms, providing a new understanding of the disease and potential markers for instability. The study also highlights the importance of genetic predisposition to high blood pressure and smoking in developing intracranial aneurysms.