Articles tagged with Genetic Disorders
Researchers found a direct connection between deletions in two genes in the 16p11.2 region of human chromosome 16 and certain brain and body traits, including seizures, hyperactivity, and obesity. The study suggests that multiple genes interact to produce various characteristics.
A new study successfully uses a shortened version of the CEP290 gene to treat Leber congenital amaurosis type 10, a rare genetic disorder causing blindness. The treatment shows significant improvement in photoreceptor survival and function.
Researchers developed higher resolution genetic diagnostic tools to identify genetic anomalies in children with neurodevelopmental disorders. The study linked novel DLG2 promoters and coding exons to developmental delay and intellectual disability, providing a potential pathogenic role in these conditions.
Researchers have developed a new CRISPR delivery system, CRISPR-Gold, that can repair the mutation causing Duchenne muscular dystrophy. The system achieves an 18-times-higher correction rate and improves muscle strength and agility in mice.
A genetic variant associated with multiple psychiatric disorders is linked to changes in a brain network that may increase an individual's risk of developing bipolar disorder or schizophrenia. The variant affects the expression of the SNAP25 protein, impacting information processing between brain regions involved in regulating emotions.
Researchers developed a new mouse model lacking the Upf3b gene to study its underlying role in intellectual disabilities and neurodevelopmental disorders. The study found that Upf3b-deficient mice exhibited defects in neural stem cell specialization, dendrite formation, and sensory processing.
A new analysis estimates that genetic factors account for 83% of the risk for autism spectrum disorder, while nonshared environmental influences contribute 17%. This estimate is higher than previous twin studies but more accurate than a lower estimate using traditional methods.
Researchers at Rutgers University created brain cells from blood samples of individuals in a three-generation family with Tourette syndrome. The study found that a mutation in the PNKD gene is likely the cause of the disorder, which affects one in every 100-150 people in the US.
Researchers at the University of York discovered that transcription factors operate as spherical clusters of molecules, not single entities. This discovery may provide insights into human health problems associated with genetic disorders and cancer, offering new avenues for understanding gene expression.
Researchers have identified networks of genes related to autism spectrum disorder (ASD) that may also be involved in cancer, potentially leading to new treatment options. The study used a computational technique to account for gene interactions, revealing genes that could affect similar pathways.
Researchers found eight mutations associated with autism in the TRIO gene, which can lead to weaker or stronger connections between brain cells. Weaker connections may hinder information storage and processing, while stronger connections cause trouble communicating between brain cells.
Scientists have identified a class of mammalian lncRNAs that evolved from ancestral genes, gaining regulatory powers and serving as master switches in various biological processes. These 'recycled' genes may hold the key to understanding human diseases and developing new treatments.
Researchers discovered the GREB1L gene associated with renal agenesis, a hereditary condition causing one or no kidneys. The finding enables early detection of the disorder, providing relief to families.
A genetic mutation in the CLPX gene has been identified as a potential cause of erythropoietic protoporphyria (EPP), a form of porphyria that may have inspired vampire folklore. The discovery highlights the complex genetic network underlying heme metabolism and holds promise for future therapies.
Researchers have discovered ultra-rare gene mutations associated with eating disorders, targeting a pathway involved in appetite regulation and inflammation. The findings suggest potential new treatments for these conditions, particularly for bulimia nervosa.
Researchers used gene therapy with LeXis, a 'junk DNA' suppressor of cholesterol, to reduce plaque in mice with familial hypercholesterolemia. The treatment lowered cholesterol and blockages in arteries, and appeared to reduce fat build-up in liver cells.
Researchers detect granulins inside cells for the first time, suggesting a potential FTD treatment strategy by targeting lysosomal function. The discovery may have therapeutic potential for Alzheimer's disease and Parkinson's disease as well.
A research team has identified two genes, NRXN1 and CNTN6, that are significantly modified in people with Tourette syndrome. These genes encode proteins involved in cell fusion in the nervous system and are linked to an increased risk of developing the condition.
Researchers successfully corrected a genetic mutation causing hypertrophic cardiomyopathy in human embryos, preventing its inheritance. The technique could apply to thousands of inherited genetic disorders and increase IVF success rates.
Researchers have discovered a new gene involved in Fanconi anaemia, a rare genetic disease affecting bone marrow and causing congenital defects. The RFWD3 gene was found to be related to DNA repair and mutations were detected in a child with the disorder.
A recent study using three genetic sequencing technologies found that late-breaking mutations occurring after conception are linked to autism spectrum disorder (ASD). These mutations, known as post-zygotic mutations, were discovered in a subset of cells and disproportionately affect the amygdala.
The Phase 3 clinical trial data showed statistically significant and clinically meaningful improvements in functional vision and visual field in participants with RPE65-mediated inherited retinal disease. Participants demonstrated marked gains in full-field light sensitivity and peripheral vision.
A NIH-funded study suggests that children's visual engagement is heritable and altered in autism, with identical twins showing synchronized eye movements and reduced attention to face regions. Researchers found that genetic factors influence social behaviors, which can help identify new treatments for autism.
Researchers have successfully delivered a gene therapy to the brains of mice with mucopolysaccharidosis type 1, preventing neurologic deficits. The noninvasive intranasal approach shows promise for treating genetic disorders affecting the brain.
Nicholas Katsanis, Director of the Center for Human Disease Modeling at Duke University, receives the 2017 Curt Stern Award for his groundbreaking research on ciliary disorders. The award recognizes his work on signaling roles of cilia and mechanisms behind rare genetic disorders.
A study found that hoarding symptoms are heritable and moderately stable between 15-18 years old, suggesting genetic effects play a significant role. The findings could help inform treatments development for young people experiencing hoarding symptoms, preventing potential progression into Hoarding Disorder as adults.
Researchers discover a new link between Zellweger syndrome and sugar metabolism, finding that the condition affects both lipid and carbohydrate pathways. This breakthrough could lead to new treatments for the rare disease.
A study published in Neurology found that approximately 17% of ALS cases are caused by gene mutations, with rare and likely harmful variants being more common in those with the disease. The research highlights the importance of genetic factors in ALS development and suggests a larger percentage of sporadic cases may be linked to genetics.
A new disease gene, MCM3AP, has been identified as causing early-onset axonal neuropathy and mild intellectual disability in multiple families worldwide. The gene was discovered using a global genetic matching platform, connecting patients and researchers from Finland to countries like Australia, Canada, Turkey, and Belgium.
Researchers have developed a new fruit fly model to investigate the link between proline metabolism and aggression in neuropsychiatric disorders. The study found that disrupting a specific protein in the brain can induce increased aggression, highlighting the importance of precise regulation of proline metabolism for normal behavior.
A novel gene defect has been identified as the cause of a severe skin blistering disorder in Central Asian Shepherd dogs. The defect, found in the COL7A1 gene, leads to the absence of collagen, causing fragile skin and blisters.
A new study identifies key genes linked to the Galapagos cormorant's loss of flight, which shares similarities with human developmental disorders. The research suggests that shorter wings may have been advantageous during diving, reducing buoyancy and increasing survival.
Research identifies CRKL gene as crucial for normal genitourinary development, with gene dosage changes associated with developmental abnormalities. The study's findings have significant implications for initial patient diagnosis and potential treatments for individuals affected by DiGeorge syndrome.
A new control mechanism for the Opitz syndrome gene has been discovered, revealing a previously unknown cell signaling pathway. This finding could lead to the development of new treatments targeting this pathway.
Scientists identified a key gene, MDR1, governing toxin removal in the gut, which is linked to bowel disorders like Crohn's disease. Targeting vital cell parts with drugs can reverse damage and improve outcomes.
Researchers identified a genetic locus on chromosome 12 associated with anorexia nervosa, which also shows correlations with neuroticism and schizophrenia. The study suggests that anorexia may have both psychiatric and metabolic roots, potentially leading to new treatment opportunities.
Scientists at MU used whole genome sequencing to identify genetic variants causing rare diseases like progressive retinal atrophy and Niemann-Pick type 1 in domestic cats. This helps feline preservationists implement breeding strategies for endangered species.
Researchers at Case Western Reserve University developed a gene-carrying nanoparticle that delivers healthy RPE65 genes to photoreceptor cells, preventing vision loss in mice with Leber congenital amaurosis. The therapy's success indicates promise for treating other inherited visual disorders.
Researchers identified a genetic mutation responsible for keratolytic winter erythema (KWE), a rare skin disorder prevalent among Afrikaners. The discovery enables dermatologists to diagnose KWE in patients and provides a starting point for developing potential treatments.
A worldwide consensus aims to diagnose most rare genetic diseases by 2020 through international cooperation and data-sharing. Despite advances in technology, the genetic mutations behind half of known rare genetic diseases remain a mystery.
Researchers found that new genes are more likely to appear in full form rather than gradually evolving through proto-genes. This is because non-coding DNA sequences give rise to highly ordered proteins, which are often deleterious to the organism.
Researchers used stem cells from patients with Angelman syndrome to identify the underlying cellular defects that cause the disorder. They found that brain cells fail to mature, disrupting synaptic connections critical for learning and cognitive development.
Researchers have created a promising mouse model for the devastating genetic disorder NGLY1 deficiency. The double-deletion mice survive and exhibit symptoms analogous to humans with the condition, making them useful for testing potential therapies.
A research team at St. Jude Children's Research Hospital has revealed a previously unknown immune machinery underlying neutrophilic dermatosis, a group of autoinflammatory skin disorders. By mapping the biological pathways involved, the researchers identified key molecules and signaling nodes that drive inflammation and tissue damage.
Researchers identified a key mutation in a tumor suppressor gene as the cause of a rare genetic disorder that leads to myelodysplastic syndrome. Children with this condition develop a shortage of normal blood cells due to disrupted bone marrow function.
Researchers have discovered a potential treatment for ALS and spinocerebellar ataxia 2 using gene silencing technology. The drug, an antisense oligonucleotide, reduces problems associated with SCA2 by silencing the ataxin 2 gene.
Researchers at JAX will study mouse models of inherited RPE-driven disease to identify potential molecular pathways for druggable targets. Their goal is to prevent, delay onset or decrease the severity of age-related macular degeneration and other heritable retinal diseases.
A team of researchers has identified the cause of a rare genetic disorder known as dystonia, which affects 70,000 people in the UK. The study found that mutations in the hippocalcin gene lead to overactivation of specific calcium channels, causing abnormal neuronal signaling and movement disorders.
The Muscular Dystrophy Association (MDA) and the Charcot-Marie-Tooth Association (CMTA) have awarded a $119,999 grant to study gene therapy for CMT1X. The two-year research project aims to examine the effectiveness of repeated injections and treatment at later stages of the disease.
A new Michigan State University study found that refugees diagnosed with post-traumatic stress disorder (PTSD) have an overactive gene associated with mental health that disrupts their stress defense system. This causes the body to overreact to stress, leading to increased symptoms of PTSD.
A team of scientists at the University of California San Diego has created a cellular model of anorexia nervosa using induced pluripotent stem cells, revealing a potential genetic link to the disease. The study identified a novel gene, TACR1, that may contribute to the development of eating disorders.
Researchers at the University of Helsinki have identified a novel gene associated with acute respiratory distress syndrome (ARDS) in Dalmatian dogs. The gene study found that the disorder results from a defect in an anillin protein which binds to actin, leading to abnormal regeneration capacity of the bronchiolar epithelium.
Researchers found master genes that control hundreds of other genes linked to various neurological and psychiatric disorders. The study suggests that modifying these master genes could lead to new treatments for brain diseases.
Researchers identified an enzyme called CYP46A1 that eliminates both cholesterol and cholestanol from the brain, reducing the formation of debilitating brain lesions. The discovery could inform clinical trials to test the enzyme's potential as a therapeutic target for these diseases.
Researchers at University of Pittsburgh found a potential inverse relationship between schizophrenia and rheumatoid arthritis, with eight genes showing opposing effects on risk. The study suggests that immune system dysfunction may play a role in both disorders.
Researchers from the University of Würzburg discovered four variants of the GLRB gene associated with anxiety and panic disorders, triggering an
A Northwestern University study found that eliminating certain receptor genes in mice leads to obsessive-compulsive disorder (OCD)-like behaviors, such as excessive grooming. The research provides strong evidence for the biological basis of OCD and may lead to new treatments for the disorder.
Researchers uncovered 91 genes linked to neurodevelopmental disorders, including 38 previously unknown risk factors. The study found overlap between conditions like autism and intellectual impairments, with some genes associated with both. Additional findings suggest less severe mutations may cause autism without intellectual disability.
A new genomic technique has been devised to quickly and accurately detect imprinted genes expressed in each cell type, improving diagnosis of genetic diseases like Prader-Willi and Angelman syndrome. Researchers have identified novel imprinted genes and demonstrated their tissue-specific expression.
Researchers have identified additional genes that may contribute to the metabolic disorder TMAU, suggesting that genetic testing may not be sufficient to identify all cases. This new insight provides reassurance to those who report fish-like odor symptoms without mutations in the FMO3 gene.