Articles tagged with Genetic Disorders
Researchers developed a new NIPT-based method that reveals 33 pathogenic copy number variations (CNVs) in the Duchenne muscular dystrophy (DMD) gene. This study provides valuable insights into the frequency and spectrum of maternal CNV carriers in the Chinese population.
LMU researchers have developed strategies to repair mutated proteins that cause an inherited stroke disorder called CARASIL. The team used a combination of in-vitro and in-vivo methods to restore the function of the protease HTRA1, which plays a crucial role in maintaining equilibrium in the extracellular matrix.
Researchers discovered a new genetic cause of inherited Parkinson's disease, the CARS E795V mutation, which affects protein function and leads to neurological symptoms. The study found that this rare mutation is responsible for the condition in nine individuals from four families.
A new study by UCLA Health reveals racial disparities in Huntington's disease diagnoses, with Black patients receiving diagnoses one year later than White patients. The study analyzed nearly 5,000 patient data points and found that these disparities may exacerbate underrepresentation of minority groups in clinical trials.
Researchers at UNC School of Medicine have identified a small molecule that could potentially treat Angelman syndrome by 'turning on' the dormant paternally-inherited UBE3A gene copy. The compound, (S)-PHA533533, has shown excellent uptake in developing brains and bioavailability, making it a promising lead for gene therapy.
Scientists have mapped over 5,000 genetic variants in the 'tumour protection' gene BAP1 that significantly increase cancer risk. These variants can be used to develop new treatments, including IGF-1 inhibitors, to slow down or prevent cancer progression.
Researchers at the University of Alberta discovered a critical link between the heart and brain in KBG syndrome, a rare neurodevelopmental disorder. The study found that mutations in the ANKRD11 gene impact both brain development and heart defects.
A CHARMed collaboration has created a set of molecular tools called CHARMs that can turn off disease-causing genes, including those coding for the prion protein. The tools have shown promise in silencing the prion protein gene and improving or eliminating disease symptoms in animals.
A breakthrough in chrysanthemum breeding uses CRISPR/Cas9 to enhance disease resistance and genetic research. The study establishes a reliable gene-editing system for chrysanthemums, which promises to advance genetic research and improve the breeding of ornamental plants.
A first-of-its-kind study compared preventative therapy efficacy between two groups: gene therapy alone and in combination with risdiplam or nusinersen. Dual therapy showed promise in independent sitting outcomes, but not in walking age or muscle disease progression prevention.
Researchers at U of T have harnessed CRISPR to efficiently and precisely control RNA splicing, enabling the systematic interrogation of gene functions and correction of splicing deficiencies in diseases. This new tool allows for targeted activation or repression of alternative exons with high specificity.
Researchers have developed three new cellular models of myotonic dystrophy type 1 that accurately represent the clinical diversity of the disease. The models show great heterogeneity in genetic expansion and molecular alterations, making them suitable for studying pathophysiology and testing therapeutic options.
A new study found that physical activity and cognitive training can improve life satisfaction and mood for adults with Down’s syndrome. The Mindsets study involved 83 participants who were assigned to one of four groups for an eight-week period, including a control group, light physical exercise, or BrainHQ activities.
A retrospective study of 202 participants found that only 83 presymptomatic carriers underwent predictive testing, highlighting limitations in current genetic testing methods. The researchers advocate for a comprehensive clinical approach combining genetic counseling, predictive testing, and monitoring, as well as psychosocial support.
Researchers from Tokyo Medical and Dental University used long-read RNA sequencing to decode genetic intricacies and disease links. The study identified novel isoforms, cell-type-specific splicing patterns, and disease-linked transcripts associated with immune-related diseases.
A study using induced pluripotent stem cells has revealed that inflammation triggered by retrotransposons and interferon signaling causes atherosclerosis in Werner syndrome patients. The researchers propose targeting the interferon signaling pathway as a potential treatment for reducing stroke and heart attacks.
A recent study by Tokyo Medical and Dental University researchers suggests that a specific variant of the CARD9 gene prevalent across northern China, Korea, and Japan may have originated from a common ancestor. The c.820dup variant was found to be relatively common in China and has been estimated to be between 2,000 and 4,000 years old...
Research finds that Huntington’s disease damages microscopic blood vessels in the brain, affecting coordination between neuronal activity and oxygenation. The study uses non-invasive measurement techniques to monitor disease progression and evaluate potential treatments.
Research suggests that altered lipid signaling in brain cells contributes to mental disorders, with specific inhibitors showing promise in rebalancing this mechanism. The study found similar changes in both human patients and healthy relatives, as well as mice with genetic disorders, opening up new treatment opportunities.
Researchers discovered that PMP22 duplication disrupts lipid metabolism and plasma membrane organization in developing Schwann cells, leading to myelin degradation and nerve damage. Targeting dysregulated lipid pathways may reverse some detrimental effects of CMT1A.
Researchers identified a genetic cause of intellectual disability, caused by mutations in the non-coding gene RNU4-2, which affects tens of thousands of people worldwide. The discovery is significant, as it represents one of the most common single-gene genetic causes of neurodevelopmental disorders.
Researchers found that a drug approved to treat autoimmune diseases and cancers alleviated symptoms of APS-1, a rare genetic syndrome caused by elevated interferon-gamma. Ruxolitinib, a Janus kinase inhibitor, normalized IFN-gamma responses and reduced AP-1-related symptoms in study participants.
A new study from the University of Lausanne reveals that both high and low levels of the AFF3 protein can lead to severe intellectual deficits and developmental disorders. The research, led by Alexandre Reymond, identifies a critical role for the gene in development and highlights the importance of precise dosage.
A genomic study uncovers germline ARID1B and mitochondrial variants that may drive pediatric chordoma genesis, a rare and aggressive bone tumor. The study found aberrant indels and haywire mitochondria in 22% of pediatric chordoma samples.
A recent study has cataloged gene-isoform variation in the developing human brain, providing crucial insights into neurodevelopmental and psychiatric disorders. The research found thousands of isoform switches that occur during brain development, implicating previously uncharacterized RNA-binding proteins.
The study reveals that FLVCR1 and FLVCR2 transport choline and ethanolamine across cellular membranes, supporting cell growth and stability. This discovery contributes to understanding rare diseases and developing new therapies for patients suffering from severe neurological and muscular disorders.
Researchers evaluated anemia cases using stringent clinical and laboratory criteria, identifying rare congenital sideroblastic anemias and nonsideroblastic iron defects with pathogenic gene mutations. This study highlights the importance of active screening and awareness for these conditions in the Indian subcontinent.
The Gilbert Family Foundation has invested $21 million in grants to launch the Next-Generation NF1 Models Initiative, a research program focused on developing advanced models of the NF1 disease. The initiative aims to accelerate the discovery of treatments that address both symptoms and underlying causes of neurofibromatosis.
Researchers at Clemson University discovered that certain Neanderthal-derived genetic variations are more common in people with autism than in the general population. These findings suggest long-term effects of ancient human hybridization on brain organization and function, potentially leading to earlier diagnostics.
Three FAU researchers have received $1M in FDOH grants to develop innovative approaches against Alzheimer's disease. Mare Cudic aims to explore the link between glycosylation and neuroinflammation, while Ruth Tappen develops an online screening tool for older drivers with cognitive decline.
Researchers at the University of Trento have identified a collection of molecular tools to rewrite DNA, including a compact Cas9 enzyme from the human microbiome. The discovery has potential for gene therapy applications and could speed up the development of therapies for genetic diseases.
Scientists have identified the genetic mutation that causes SCA4, a progressive neurological disorder. The mutated gene ZFHX3 leads to impaired protein recycling in nerve cells, causing symptoms such as difficulty walking and balancing. This discovery opens the door to potential treatments for both SCA4 and another related form of ataxia.
Researchers have found that genetic mutations are not essential for cancer onset, and instead, epigenetic dysregulation plays a crucial role. Epigenetic changes can cause gene expression to be altered, leading to tumour formation even after the signal has been restored.
A groundbreaking study reveals an unsuspected role of the SNUPN gene in muscle cell function, identifying it as the causative factor for a debilitating muscular dystrophy. Researchers found that alterations in the Snurportin-1 protein encoded by the SNUPN gene disrupts muscle cell integrity and function.
Researchers developed a gene-based therapy that restored typical cellular function in organoids created from cells of people with Timothy syndrome. The treatment used antisense oligonucleotides to decrease the use of mutated exon 8A and increase reliance on non-affected exon 8, restoring normal calcium channel functioning.
Researchers develop gene therapy to delay progression of metachromatic leukodystrophy by correcting enzyme deficiency and reducing neuroinflammation. Successful treatment has been demonstrated in mice, paving the way for potential human clinical trials.
A new Spanish study provides the first stratification of the risk of developing dilated cardiomyopathy among symptom-free genetic carriers. Researchers found that nearly 11% of genetic carriers developed the disease within a median follow-up period of 37 months.
Researchers at Kobe University discovered a new gene, FDFT1, responsible for porokeratosis by identifying epigenetic silencing. Patients with localized lesions didn't have inherited damaged copies, leading to a hypothesis that epigenetic changes are the first hit. The findings have implications for treatment and counseling.
Researchers found a unique genetic mutation in the PD-L1 gene, essential for preventing autoimmune diabetes. The discovery sheds light on the role of PD-L1 in regulating immune cells and could lead to new treatments for the devastating disease.
A study of over 1 million Swedish children reveals that genetic differences contribute to phenotypic variation in autism spectrum disorder, differing significantly between males and females. The findings suggest underlying causes of autism may differ between the sexes, partly explaining the skewed sex ratio in the condition.
A team of researchers has identified a single nucleotide change in the TBX1 gene that affects skull base development, contributing to human's unique brain size. This variation is associated with lower TBX1 expression levels in humans compared to extinct hominins, leading to distinct changes in cranial morphology.
Researchers have identified a rare genetic condition, Glutamine Synthetase Stabilization Disorder, which causes seizures and delayed development. The study found that genetic variants increase the stability of an enzyme producing glutamine, disrupting brain development.
A recent study by Shinshu University researchers found that 1.62 per 1,000 live births have congenital deafness, with bilateral HL affecting 0.84% and unilateral HL affecting 0.77%. The main causes of these conditions were identified as hereditary factors and cochlear nerve deficiency.
A genetic variant affecting mitochondrial POLG enzyme function delays viral infection detection, leading to delayed severe inflammation and brain/liver damage. This mechanism explains variable ages of onset and manifestations of neurological diseases like MIRAS in patients carrying the variant.
Researchers at the University of Helsinki have successfully corrected a gene defect causing argininosuccinic aciduria, a severe metabolic disease. The team used CRISPR-Cas9 technique to reprogram patient cells, guiding them to differentiate into liver cells that no longer produced harmful argininosuccinic acid.
Researchers discovered that known genetic variants account for a large portion of chronic kidney diseases with unknown origin. The study found that 10% of patients had pathogenic variants in CKD-causing genes, and some hereditary renal diseases could be diagnosed and treated early on to slow down disease progression.
A new study from Aarhus University reveals that only 67% of Danes registered with an ectodermal dysplasia diagnosis actually have congenital ectodermal dysplasia. The study identifies key characteristics, including abnormal teeth, skin issues, and nail problems, highlighting the need for collaboration across healthcare disciplines.
A study published in Nature Genetics reveals early cell changes in healthy carriers of BRCA1 and BRCA2 gene mutations, suggesting a potential target for breast cancer prevention. The researchers created the world's largest catalogue of human breast cells, which may lead to the use of existing immunotherapy drugs as an early intervention.
Researchers developed a single-assay approach using exome sequencing data to detect large-scale pathogenic mutations, detecting 91 previously undetectable mutations. This shift could enable earlier diagnoses and save the NHS vital resources.
A recent study by University of Colorado Boulder researchers sheds light on the interactions between genetic variants and their impact on smoking behaviors. The study found that certain gene variants can interact with each other and with Mr. Big, a widely replicated genetic variant associated with smoking behaviors.
Researchers discovered two novel GNE gene mutations that may cause a rare blood disorder called macrothrombocytopenia. The mutations affect the synthesis of sialic acid, critical for brain development and angiogenesis. Further studies are needed to understand the mechanism underlying this disorder and explore therapeutic interventions.
Researchers found that patients with lung disease have a higher risk of developing heart disease, regardless of age or smoking status. The study, published in Orphanet Journal of Rare Diseases, suggests that Proteinase 3 enzyme may play a key role in this increased risk.
Researchers identify 'junk proteins' as possible cause of ALS, a degenerative disease characterized by motor neuron death. The accumulation of these proteins is linked to the aging process, suggesting a new hypothesis for understanding ALS.
Researchers at the University of Alabama at Birmingham discovered that the ALG6 variant is associated with altered phenotypes in patients with RP59, including delayed peripheral rod degeneration and diminished macular cone photoreceptor health. This study highlights the complex effects of modifier genes in human genetic disease.
The Sylvester Comprehensive Cancer Center researchers will investigate the genetics behind endometrial cancer in Black women and its awareness among different populations. They aim to identify high-risk women, understand hereditary mutations, and raise physician awareness.
Scientists have successfully tested novel gene therapies in a whole human liver, opening up new avenues for treating life-threatening inherited diseases. The use of a normothermic liver perfusion system enables accurate testing of gene therapeutics directly in the clinical target organ.
Researchers have discovered new genetic mechanisms related to spinocerebellar ataxia type 37, a rare neurological disorder that affects balance and movement. The study employed advanced techniques such as CRISPR/Cas9 gene editing and machine learning to uncover the disease's underlying causes.
Meena Sethuraman, a third-year medical student, received the 2024 ACMG Foundation/Revvity Travel Award for her research on genetic variants in fatty acid oxidation disorders. The award recognizes her platform presentation on characterizing pathogenicity of ACADVL variants in very long-chain acyl-CoA dehydrogenase deficiency.
Christiana Wang, a second-year PhD candidate, has been awarded the prestigious award for her platform presentation on antisense oligonucleotide therapy for a dominant negative SPTAN1 pathogenic variant. Her research aims to develop individualized therapy for treating rare genetic disorders.
A large-scale study found that individuals with haemochromatosis genes have higher levels of liver, musculoskeletal, and brain diseases, particularly after age 65. The research analyzed data from over 450,000 European Ancestry participants in UK Biobank.