Articles tagged with Genetic Disorders
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.
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.
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 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 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 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.
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.
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.
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.
Melissa A. Kelly, MS, CGC, receives the 2024 ACMG Foundation Carolyn Mills Lovell Genetic Counselor Award for her platform presentation on integrating genomic medicine into healthcare. Her work exemplifies the importance of genetic counselors in clinical research and improving genetic services to populations.
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.
A study identifies a genetic mutation underlying KCNQ2 encephalopathy, a rare and devastating form of epilepsy. The research reveals key mechanisms by which the disorder manifests in patients, including suppression of normal gene function and altered protein distribution.
Researchers have discovered why some RNA-splicing drugs work better than others, revealing a key factor that impacts treatment efficacy. By analyzing the interactions between drugs and RNA, they found that combining splice-modifying drugs targeting the same gene segment can lead to greater therapeutic effects.
A team of scientists at The Hospital for Sick Children developed an innovative statistical approach to demonstrate the effectiveness of a medication in reducing disease progression and liver transplants in children with Alagille syndrome. Using data from an international real-world cohort, they found a 70% improvement in event-free sur...
Researchers decode underlying mechanisms of DCM, hippocampal neurotoxicity, and dysbiosis mediated AD progression using mass spectrometry imaging. The studies found metabolic changes in DCM rat hearts and regulation of CYPs in the hippocampus, providing new perspectives on treatment strategies.
A new study finds that gut bacteria can cause blindness in some inherited eye diseases by breaching the body's defenses. Treating these bacteria with antimicrobials may prevent sight loss, offering a potential new approach to treatment.
A statewide genomic screening program enrolls first 20,000 participants, providing information on genetic risk factors for diseases such as hereditary breast and ovarian cancer. The program aims to empower communities to understand the value of research and increase participation rates among underrepresented groups.
Researchers created novel gene editing enzymes with improved precision, reducing off-target RNA edits by over 99%. The technology has potential applications in treating mitochondrial genetic diseases and may lead to transformative treatments within the next five years.
A study has identified 1,289 genetic markers associated with Type 2 diabetes, including 145 newly discovered markers. The research provides risk scores for diabetes complications and suggests potential genetic targets for new treatments.
A recent study has uncovered 145 genes crucial for genome stability, shedding light on genetic factors influencing human health over a lifespan. The research highlights the potential of SIRT inhibitors as a therapeutic pathway for cohesinopathies and other genomic disorders.
Researchers found a genetic disorder linked to the absence of a chemical receptor called CCR2, which is essential for alveolar macrophages to properly function. This leads to half the normal count of pulmonary alveolar macrophages, resulting in tissue injury and increased susceptibility to mycobacterial infections.
Researchers found that parents' manifestation of neurodevelopmental and psychiatric traits can predict the prevalence and severity of disorders in children. The study analyzed 97,000 families and revealed a correlation between parental traits, suggesting that assortative mating may contribute to increased disease severity.
Researchers have found that a gene-based therapy targeting plakophilin-2 can interrupt the progression of arrhythmogenic right ventricular cardiomyopathy, a rare inherited disorder. The treatment reduced episodes of arrhythmia and slowed the deterioration of the heart's walls in mice.
A new study using CRISPR technology enables researchers to activate genes in easily accessible cells, providing a potential breakthrough in the diagnosis and understanding of rare genetic diseases. This method could revolutionize the process by enabling faster results within weeks.
Researchers at McGill University propose a new biological classification system for Parkinson's disease, considering alpha-synuclein, neurodegeneration, and genetics. This shift in thinking aims to diagnose the disease earlier, targeting specific patient groups with more common biology, improving treatment development success.
Scientists have identified likely 'cells-of-origin' that can grow into breast cancer in women carrying a faulty BRCA2 gene, who are at high risk of developing the disease. The study also showed these cells have potential to be targeted with an existing cancer drug to delay tumour growth.
A $2.8M NIH grant will help unravel the mysteries of disease-causing DNA folding errors, with researchers exploring the 'folding mechanisms' implicated in certain genetic disorders and cancers. The study aims to develop an artificial version of the DNA compaction system, also known as synthetic biology.
Researchers have successfully used mRNA technology to correct a rare genetic disease in mice, demonstrating its potential therapeutic use. The treatment corrected the lethal consequences of the disease and restored glutathione metabolism.
A research team developed a novel blood test called desNIPT to screen pregnant women for genetic diseases in their unborn children. The test has demonstrated effectiveness in identifying alterations in fetal genes, similar to invasive procedures like chorionic villus sampling or amniocentesis.
Researchers from Osaka University have identified erythromycin as a potential treatment for myotonic dystrophy type 1, a genetic disease characterized by progressive muscular weakness. The antibiotic showed acceptable safety and tolerability profiles in a phase 2 clinical trial, with some patients experiencing significant improvements ...
Research uncovers the genetic drivers of HDGC, highlighting CDH1 gene mutations and other genes like CTNNA1 and MAP3K6. Prophylactic total gastrectomy offers a life-saving option for high-risk individuals.
Researchers have found that RNA polymerase can recognize and transcribe artificial base pairs in the same manner as natural ones, paving the way for custom protein design. This breakthrough could revolutionize medicine by creating new medicines through designer proteins.
A clinical trial found that the ketogenic diet improved kidney function in patients with polycystic kidney disease, contradicting the long-held belief that it's a genetic disease. The study suggests that controlling the condition through dietary changes can lead to better health outcomes.
Gene therapy treatments can prompt an adverse immune reaction when the body mistakenly perceives the treatment as a viral threat. Researchers have identified a critical pathway in the liver that triggers this response, but also found a way to block it, paving the way for safer and more precise gene therapy options.
Researchers have created the first extensive map showing which genetic changes can cause disease, leading to valuable insights into neurodevelopmental disorders and cancer. The study reveals that 90% of previously unexplained genetic changes' impact on health is significant, promising speedier diagnosis and new treatment avenues.
Researchers at West Virginia University are using artificial intelligence to analyze habanero peppers and develop new methods for predicting genetic traits. The goal is to improve crop yields and prevent genetic diseases, with potential applications in human health.
A breakthrough study found that light exercise can improve cognitive health in adults with Down syndrome, leading to improved information processing and attention. After just eight weeks of walking, participants showed significant increases in physical fitness and reductions in errors during cognitive assessments.
Researchers at Salk Institute uncover a mechanism for repairing damaged nerves during peripheral neuropathy, with protein Mitf playing a key role. The findings have the potential to inspire novel therapeutics that bolster repair function and heal peripheral neuropathy.
Researchers at the University of Pittsburgh have discovered a potential new target for treating Barth syndrome, a rare genetic disease with devastating consequences. They identified a molecular culprit that could be targeted to potentially reverse the disease course and developed a small-molecule drug candidate to correct genetic tafaz...
Researchers discuss a new approach integrating genomic, epigenomic, transcriptomic, and machine learning methods to identify functional genetic variants and characterize their mode of action in regulating target genes. This method aims to improve understanding of disease etiology and prioritize causative inherited genetic variants.
Researchers discovered a link between gene therapy and the accumulation of stem cells with genetic mutations, which can lead to accelerated growth and increased blood cancer risk. The study suggests that younger patients may be safer candidates for gene therapy due to fewer genetic mutations.
A research team identified two different RAD50 variants in a patient with progressive bone marrow failure and immunodeficiency, leading to loss of function of the MRN complex. The findings suggest that RAD50 deficiency/Nijmegen breakage syndrome-like disorder is characterized by growth retardation and microcephaly.
The study demonstrates that concurrent DNA and RNA sequencing improves the detection of novel variants in individuals undergoing hereditary cancer testing, expanding identification of those with hereditary cancer predisposition. This advancement enables personalized therapeutics and surveillance for these individuals.
A Geisinger Health System study found that genomic screening for hereditary hemochromatosis type 1 can identify underdiagnosed cases and encourage treatment. The screening program resulted in 69% of those notified proceeding with a lab test, and 69% of those showing iron overload beginning subsequent treatment.
A new study validates Low-Pass Genome Sequencing (LP GS) as a robust and cost-effective alternative to Chromosomal Microarray Analysis (CMA) for prenatal diagnosis. LP GS detects six additional Copy Number Variations (CNVs) in cases with negative CMA results, highlighting the importance of sequencing depth in its detection sensitivity.
Researchers have developed a novel approach, REVeRT, to efficiently transport large genes using dual AAV vectors at the transcript level. This new method offers increased efficiency, fewer side effects, and greater flexibility compared to existing strategies.
A novel procedure using a refined technique and narrower tube has reduced the risk of transmitting mitochondrial disease during assisted reproduction. The study found that the new protocol resulted in normal development of embryos and healthy offspring, with minimal transfer of maternal mitochondria to the offspring.
Researchers discovered a synthetic plant biology approach to prevent protein aggregation in human cells and nematodes, using the plant enzyme stromal processing peptidase (SPP) derived from chloroplasts. This finding opens the door to testing SPP as a potential therapy for Huntington's disease.
USC is partnering with seven leading regenerative medicine institutes to form the Los Angeles and surrounding area regenerative medicine consortium. The partnership aims to advance regenerative medicine using stem cells and gene therapies for treating unmet medical needs.
A new CRISPR-based gene-editing tool, AsCas12f, has been developed with enhanced editing ability and compact size. The engineered enzyme has already shown success in animal trials and holds promise for improved treatments of genetic disorders.
Researchers at Osaka University have developed a new gene editing technique called NICER, which significantly reduces off-target mutations compared to traditional CRISPR/Cas9 methods. This novel approach uses multiple small cuts in DNA strands and promotes interhomolog homologous recombination to correct heterozygous mutations.
A recent study found that gene panel sequencing as a first-tier screening test detected 2.7% of infants, with 50.4% diagnosed correctly. This alternative method identified undiagnosed cases in 1 out of every 500 newborns and showed promise for reducing false positives.
A study by researchers at the University of Tokyo found that the presynaptic Ube3a E3 ligase molecule plays a key role in eliminating neural synapses. This discovery offers insights into developmental disorders such as Angelman syndrome and autism spectrum disorders.
A new technology has identified a genetic abnormality causing xeroderma pigmentosum (XP)-F, a skin disorder. The technique effectively reversed many cellular phenotypes associated with XP and may be effective for genetic treatments of other diseases.
A phase 2 study of idrevloride in hypertonic saline has shown significant improvement in lung function for individuals with primary ciliary dyskinesia. The treatment, an epithelial sodium channel blocker, is safe and well-tolerated, offering hope for newly developed treatments for the rare disease.