Articles tagged with Genetic Disorders
Dr. Judith G. Hall, a pioneering geneticist, has been awarded the David L. Rimoin Lifetime Achievement Award for her groundbreaking research and teaching on human growth and connective tissue disorders. She is recognized for helping establish medical genetics as an accredited clinical specialty.
Researchers have identified the genetic basis of melorheostosis, a rare bone disorder characterized by excess bone formation resembling dripping candle wax. The study found that mutations in the MAP2K1 gene were responsible for the condition, offering potential treatment targets and insights into bone development.
Researchers have identified genetic links between ALS and frontotemporal dementia, suggesting that treatments for one may also work for the other. The study found common genetic variations associated with both disorders, including those near the MAPT gene and BNIP1.
A recent study developed a model to predict the effect of genetic variants on cognitive traits, opening the way for better interpretation of genetic analyzes and early care for children at risk. The discovery paves the way for clinicians to estimate cognitive impact of rare genetic variants.
Researchers discover bassoon gene mutations associated with a rare brain disorder, PSP-like symptoms, and cognitive decline. The study highlights the importance of analyzing BSN gene mutations in patients with neurological disorders.
Researchers found that genetic changes outside of genes, specifically regulatory elements, can cause rare developmental disorders. This discovery is a positive step towards providing an explanation for children with undiagnosed neurodevelopmental disorders, and could lead to diagnoses and treatment options for thousands of families.
A study by McMaster University researchers has pinpointed a gene responsible for neurodevelopmental disorders, including autism. The study found that alterations of the thousand and one amino-acid kinase 2 (TAOK2) gene play a direct role in these disorders.
Researchers have discovered 50 new gene regions increasing schizophrenia risk, including genes previously associated with intellectual disability and autism. These findings shed light on the disorder's complex genetics, suggesting subtle genetic variants can contribute to its development.
Researchers have developed a safer and more specific CRISPR/Cas9 system to treat Huntington's disease, a neurodegenerative disorder caused by a defective gene. The new technique successfully inactivates the mutant gene and reduces toxic protein synthesis, offering hope for a potential cure.
Researchers have uncovered key events in familial frontotemporal lobar degeneration (FTLD) linked to PGRN gene mutations. They discovered that tau phosphorylation drives synapse loss and communication disruption, providing a new avenue for treatment targeting tau phosphorylation.
The inaugural issue of The CRISPR Journal features a range of articles on CRISPR biology, technology, and genome editing. Research highlights include progress in treating genetic diseases, such as hereditary blindness and Batten disease, using CRISPR-Cas9 gene editing.
A UCLA-led study has found significant overlap in gene expression patterns among autism, schizophrenia, and bipolar disorder, with distinct differences also observed. Researchers have identified a molecular pathological signature for these disorders, providing a large step forward in understanding their underlying causes.
Researchers found that androgens increase cell spread and prevent death, potentially predisposing boys to autism. The study identified key genes regulated by testosterone that contribute to the risk of autism.
The Vilcek Prize in Biomedical Science is awarded to Alexander Rudensky for his work on regulatory T cells and their role in cancer treatment. Two younger immigrants, Polina Anikeeva and Sergiu P. Pasca, receive $50,000 prizes for their promising contributions to biomedical engineering and brain disease research.
Researchers at UConn Health have reversed Prader-Willi syndrome in lab-grown brain cells by targeting the ZNF274 protein, which silences many genes. The breakthrough provides clues for treating this genetic disorder and offers new hope for patients with life-threatening childhood obesity.
Researchers identified unique epigenetic signatures for nine neurodevelopmental disorders, enabling better diagnosis with minimal clinical overlap. The signatures can be used to screen for multiple syndromes simultaneously and distinguish between similar cases.
A new study suggests a shared genetic susceptibility between epilepsy and mood disorders, particularly in individuals with focal epilepsy. The study found a significant increase in lifetime prevalence of mood disorders among people with focal epilepsy compared to those with generalized epilepsy.
Researchers found a significant increase in lifetime prevalence of mood disorders among individuals with focal epilepsy, but not generalized epilepsy. The study suggests a shared genetic susceptibility to these conditions, specifically expressed in people with focal epilepsy.
Scientists at Bielefeld University confirm the presence of a previously unknown genetic defect 'MPS III-E' causing progressive blindness and inner ear hearing impairment in patients. Biochemical studies revealed that the disorder is caused by an enzyme deficiency, which can be treated with biotechnological enzyme replacement therapy.
Researchers discovered that the stress gene NR4A1 adjusts energy output and synapse number of prefrontal cortex neurons in response to stress. Chronic stress may interfere with normal brain circuit function through this gene's impact on cellular connectivity, but altering its expression protects PFC cells from synaptic loss.
Researchers identified shared immunity-related pathways involved in advanced stages of inherited blindness, hinting at potential therapeutic strategies. The study's findings also reveal similarities with common vision disorders like diabetic retinopathy and age-related macular degeneration.
A novel genetic study aims to identify unique genetic signatures of patients at risk for opioid addiction, enabling tailored treatment approaches. The research will also inform the development of an 'addiction risk score' to guide clinicians in prescription decisions.
Early evidence suggests that a gene therapy developed at St. Jude improves immune systems in infants as young as 2 months old with XSCID, offering broad protection and reducing the need for protective isolation. The treatment has been shown to be well-tolerated and effective in restoring immune function.
Mental illnesses like depression, bipolar disorder, and PTSD affect nearly 1 in 5 adults in the US. Psychologist Lee Anna Clark proposes revisiting diagnostic manuals to address complex factors causing these conditions. The phenomenon of mental illness is multi-determined and less categorical than previously thought.
A research team has quantified blind spots in protein function, revealing that 30% of proteins with unknown functions are enzymes. This discovery has significant implications for understanding rare genetic diseases and could lead to a better insight into the onset and triggers of inherited metabolic diseases.
A new study using pluripotent stem cell technology reveals that having too much or too little of the CHRNA7 gene can lead to similar biological effects in brain cells. This discovery sheds light on the mechanisms underlying neuropsychiatric disorders and offers a potential avenue for treatment.
Researchers have tested a potential new drug, NitroSynapsin, in a mouse model of an autism disorder and found it largely corrected electrical, behavioral and brain abnormalities. The candidate drug is intended to restore the signaling imbalance found in virtually all forms of autism spectrum disorder.
A study has found a connection between genetic mutations in lysosomal storage disorders and an increased risk of developing Parkinson's disease. Researchers analyzed the largest available Parkinson's disease genetic dataset, discovering that nearly half of those with the disease carried damaging mutations in these genes.
Researchers found that a genetic variant in the dopamine receptor gene delayed maturation of a brain region involved in reward planning in boys, but not girls. In girls, the opposite effect was seen, with the same variant delaying cortical maturation while promoting healthy development in boys.
Geneticists at Emory University School of Medicine have discovered a mysterious DNA modification in animals, specifically adenine methylation, which increases four-fold under conditions of stress in the brain. This epigenetic modification may play a role in neuropsychiatric disorders.
Researchers have made the largest study on genetic patterns and molecular changes in specific tissues, showing tens of thousands of variants with detectable effects. The studies also identified rare genetic variants contributing to extreme changes in cellular markers.
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.