Articles tagged with Genetic Disorders
Researchers linked disease-related proteins and genes to identify specific cellular pathways responsible for Alzheimer's genesis and progression. The study identified 38 proteins with causal effects in Alzheimer's progression, including 15 potential targets for medicines.
Researchers discovered genetic variation in sucrose digestion affects sugar consumption and preference. Individuals with complete SI gene deficiency consumed less sucrose-rich foods than those with partial functionality.
A study reveals racial disparities in genetic detection rates for inherited retinal diseases, with lower rates observed in Black patients compared to white patients. The findings highlight the need for improved genetic testing and therapeutic development to address these disparities.
The National Comprehensive Cancer Network has updated its guidelines for genetic/familial high-risk assessment, incorporating the latest scientific research and expert recommendations to enhance screening practices and treatment options. The expanded guidelines cover various cancer types and provide guidance on genetic testing, heredit...
The CRISPR tool was successfully used to correct a genetic defect in cells affected by chronic granulomatous disease. However, the repair process also introduced new genetic defects, highlighting the need for caution when using CRISPR technology in clinical settings.
A recent study has identified 51 amyotrophic lateral sclerosis (ALS)-associated mutations in mitochondrial DNA that could help diagnose the disease. The mutations, which include 13 that increase the risk of ALS and 38 protective ones, were found to be significantly associated with an increased or decreased risk of developing the disease.
Researchers developed an AI-based method to analyze kidney lesions in female patients with Alport syndrome, predicting renal prognosis and guiding treatment interventions. The approach uses a modified stain and deep learning to detect basement membrane lesions, showing a positive correlation with proteinuria concentration.
The SynGAP Research Fund has awarded grants to Dr. Clement Chow to advance therapeutic development for SYNGAP1-Related Disorders. His research uses drug repurposing to identify compounds like N-acetyl-L-leucine as potential treatments.
The Clinical Genome Resource (ClinGen) has published data on over 2,700 genes curated for clinical relevance to genetic diseases. The consortium has identified 2,420 gene-disease relationships, classified 5,161 unique pathogenic variants and validated 1,557 genes for dosage sensitivity assessments.
Researchers developed a mouse model mimicking the liver symptoms of myotonic dystrophy type 1, revealing fatty liver disease and hypersensitivity to medications. The study found that a gene regulating fat synthesis is misspliced in affected livers, providing potential treatment pathways.
A new discovery by Cold Spring Harbor Laboratory's Lloyd Trotman suggests that menadione, a precursor to vitamin K, can slow prostate cancer progression in mice. The supplement depletes a lipid called PI(3)P, killing cancer cells and slowing disease progression significantly.
Researchers have successfully integrated genome sequencing into newborn screening to identify hundreds of rare genetic disorders. This approach allows for earlier diagnosis and treatment, promoting health equity and reducing time to diagnosis.
A new study in mice shows a unique mRNA delivery method can successfully edit faulty genes in fetal brain cells. The technology has the potential to stop progression of genetic-based neurodevelopmental conditions like Angelman syndrome and Rett syndrome before birth.
Dr. Fyodor Urnav proposes a set of initiatives to address the crisis, including pooling patients by syndrome and permitting multiple gene editors in a single Investigational New Drug application. This approach aims to accelerate the development of CRISPR therapies for rare genetic diseases.
Researchers aim to improve gene therapy design for life-long correction of genetic diseases, but face unknowns including immune response and genomic changes. A five-year NIH award will fund an analysis of genetic and cellular determinants of gene therapy longevity.
Researchers identified a protein that could improve the cardiovascular health of patients with progeria, a rare genetic disorder. The discovery provides promising insights into potential treatments targeting cardiovascular complications in HGPS.
Researchers found that female mouse models of Rett syndrome have a mosaic-like distribution of cells expressing wild-type and mutant MeCP2 protein, leading to dysregulated genes. The study also discovered an unusual disease progression, with females having more dysregulated genes at the pre-symptomatic stage than later on.
A Geisinger study found a significant link between increased autism risk and the Y chromosome, offering a potential explanation for the disparity in ASD prevalence among males. The research analyzed genetic data from over 177,000 patients and confirmed prior work on Turner syndrome's association with ASD risk.
A large-scale study of children with genetic disorders found that thousands benefited from targeted treatments and support after receiving a genetic diagnosis, with over 20% able to start or adjust therapies. Researchers expect this number to grow as new genetic therapies develop.
A genome-wide association study found that inherited genetics is a key factor in why some people develop gout, while others don't. The research identified new targets for preventing gout attacks and hopes to lead to improved treatment options.
A new study reveals a promising therapy using antimiRs to treat myotonic dystrophy type 1 (DM1), a genetic disorder caused by abnormally high CTG repeats in the DMPK gene. The treatment increased MBNL1 levels and improved muscle cell functions, reducing disease symptoms.
Researchers identified a crucial protein, TIMP3, overproduced in AMD and found that blocking its activity can reduce drusen formation, suggesting a promising treatment strategy. The study offers new avenues for preventing AMD and improving the lives of millions affected by this disease.
The study analyzed the genetic profiles of 80,000 people and found that repeat expansion disorders (REDs) are common across different populations. The findings suggest a significant shift in how we think about genetic testing, profiling, and counseling for these conditions.
Researchers found altered synaptic architecture in neurons expressing mutant PrP before primary symptoms appear. Treatments targeting synapse health may help combat the diseases' symptoms.
A new method using shared segments within the genome has identified undiagnosed cases of Long QT syndrome, a rare disorder that can lead to abnormal heart rhythms and sudden cardiac death. The approach was developed by researchers at Vanderbilt University Medical Center and applied to a DNA biobank to detect carriers of rare disease-ca...
Researchers have discovered a gene responsible for some inherited retinal diseases, which damage the retina and threaten vision. The study identified the UBAP1L gene as a cause of different forms of retinal dystrophy, including maculopathy and cone-rod dystrophy, affecting central and night vision.
A UD researcher has received a $2.3M NIH grant to investigate inherited retinal diseases. The funding will support groundbreaking research that could lead to significant breakthroughs in understanding and addressing these conditions.
A new individualized risk prediction tool has been developed to predict the severity of heart disease in people suffering from Long QT syndrome. The test analyzes genetic mutations associated with the condition and can identify those at high risk of sudden cardiac death, allowing for tailored treatment.
A study from University of California San Diego reveals a direct association between inherited genetic variants in mitochondrial DNA and the severity of Gulf War illness. The findings support an emerging hypothesis that GWI is driven by mitochondrial dysfunction rather than inflammation.
Researchers have identified eight novel genetic mutations in patients with CSF1R-Related Disorder worldwide, highlighting the prevalence of the disease and paving the way for future individualized treatment. The discovery also suggests that genetic and environmental factors may influence the disease.
Researchers developed a compact 'gene scissor' tool, TnpB, which shows a 4.4-fold increase in efficiency of modifying DNA, making it more effective as a gene editing tool. The tool can be used to treat patients with familial hypercholesterolemia, reducing cholesterol levels by nearly 80%.
Researchers identified over 3,000 harmful genetic changes in the RAD51C gene that increase ovarian cancer risk six-fold and breast cancer risk four-fold. These findings can help doctors and diagnostic laboratory scientists better assess cancer risk and provide more personalized care.
The new center aims to provide state-of-the-art genomic services to patients with difficult-to-diagnose diseases, aiming to shed light on undiagnosed conditions and uncover rare variations of more common diseases. The grant will enable the provision of advanced diagnostic services to alleviate the burden of these disorders.
Research analyzing 4.184 million genetic data from 23andMe participants found that those with sickle cell trait have a higher risk of venous thromboembolism and pulmonary embolism, yet relatively lower risk of blood clotting overall compared to FVL.
A UCLA-led research team has identified degeneration-associated molecular markers shared by several forms of dementia. The study also found cell type-specific changes that underlie each condition, highlighting potential new therapeutic targets.
Researchers at Karolinska Institutet successfully used gene therapy to improve vision in 11 out of 12 patients with Bothnia dystrophy, a form of hereditary blindness. The treatment involved injecting a specially designed virus under the retina, which produced normal protein and restored visual function.
A study published in Kidney International Reports identified mutations in the IFT140 gene as a potential cause of polycystic kidney disease in patients without a family history. The findings suggest that these patients may be underdiagnosed due to mild symptoms and atypical kidney characteristics.
Children's Hospital of Philadelphia researchers have reported encouraging evidence of an effective new gene therapy to treat multiple sulfatase deficiency. The ex vivo gene therapy improved sulfatase production and reduced symptoms associated with the disease in preclinical models.
Researchers at Nagoya University have developed a method to chemically alter siRNAs, reducing off-target effects and improving the safety of siRNA drugs for genetic therapy. By modifying the seed region of siRNAs with formamide, they achieved suppression of off-target effects with higher efficiency than existing chemical modifications.
Researchers at the University of Hawaii have developed a new gene editing technology that can efficiently deliver healthy genes to the body. This method addresses limitations of current methods and has shown success rates of up to 96%, potentially leading to faster and more affordable treatments for various genetic diseases.
Researchers used genetic method Mendelian randomization to show high levels of fasting insulin cause reduction in Lp(a), rather than the other way around. Low Lp(a) is unlikely to be a risk factor for type 2 diabetes, independent of pre-existing hyperinsulinaemia and insulin resistance.
A multi-university research team led by University of Virginia engineering professor Gustavo K. Rohde has developed a system that can accurately spot genetic markers of autism in brain images. The system uses generative computer modeling technique called transport-based morphometry, which reveals brain structure patterns that predict v...
Silent gene mutations may have significant consequences beyond their own gene, according to a study published in the Proceedings of the National Academy of Sciences. Researchers found that synonymous mutations in one gene can increase the production of a neighboring gene by recruiting RNA polymerase to cryptic transcription sites.
A study published at Uppsala University found that chronic cough is hereditary, with a 50% increased risk for offspring if one parent has the condition. The research also revealed differences in care between regions and highlights the need for better guidelines.
A study published in Nature Communications implicates the gene CHCHD2 in Huntington's disease progression and identifies it as a potential therapeutic target. The researchers found that mutations in the HTT gene affect CHCHD2, which is involved in maintaining mitochondrial function.
A computational model can predict which drugs will be most effective in treating diseases caused by mutations that bring protein synthesis to a halt. The predictive model, RTDetective, accelerates the design, development, and efficacy of clinical trials for genetic disorders and cancers.
Researchers have identified two proteins, PARP1 and histone H1.2, that interact with an ALS-causing mutant FUS protein, leading to pathological changes. Inhibiting these proteins may be a possible therapeutic target for familial ALS cases caused by mutations in the FUS gene.
Researchers discovered that Huntington's disease protein aggregates cause breaks in the nuclear envelope, leading to DNA damage and misregulation of neuronal genes. The study suggests a common mechanism for neurodegenerative diseases involving nuclear aggregate-induced ruptures.
Researchers at Edith Cowan University have uncovered a significant genetic connection between Alzheimer's disease and several coronary artery disease-related disorders, offering opportunities to improve health outcomes. The study found that some of the same genes played a role in or are associated across these conditions.
A study published in Cardiovascular Research Journal found that a gene deficiency in patients with atrial fibrillation leads to reduced energy production in heart cells. PITX2-deficient cardiac cells have smaller and less efficient mitochondria, pushing the heart into an oxygen-deficient stress state.
A Rutgers study found that the genetic makeup of adolescent peers can have long-term consequences for an individual's risk of developing substance use disorders, depression, and anxiety. The study used Swedish national data to assess peer social genetic effects for several psychiatric disorders.
Researchers have identified nearly 300 common and over 20 rare genetic variants as significant risk factors for schizophrenia. The study emphasizes the role of multiple genes rather than single-gene causation, revealing complexity in the mechanisms underlying the disorder.
Researchers at Lawson Health Research Institute have made a world-first discovery using advanced technology and artificial intelligence (AI) to accurately diagnose rare diseases and prenatal exposure-related birth abnormalities. They used EpiSign technology, which measures a patient's epigenome, to identify patients affected by recurre...
The PD GENEration study has found that 13% of participants have a genetic form of Parkinson's disease, significantly higher than previous estimates. The study, which reached its goal of 15,000 participants ahead of schedule, provides insights into the genetics of the disease and its potential for precision medicine.
Researchers at the Mayo Clinic Comprehensive Cancer Center discovered a new treatment approach that improved survival rates for patients with B-cell precursor leukemia by nearly 60%. The study found that adding blinatumomab to chemotherapy reduced the risk of leukemia recurrence and death.
Researchers found that mutations in the TLR7 gene significantly increase the risk of severe COVID-19, as well as changes in the TBK1, INFAR1, and IFIH1 genes. The study also suggests gender-specific differences in how genetic factors influence disease progression.
A new genetic test has identified a mutation causing progressive retinal atrophy (PRA) in English Shepherd Dogs, allowing breeders to eliminate the disease from their population. The test is available for purchase and will help prevent the disease from being passed on to puppies.
Researchers highlight DDX41's distinct contribution to myeloid neoplasms with germline predisposition. The discovery sheds light on unique pathogenesis and disease phenotype associated with DDX41 variants.
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.
Researchers at UW Medicine have developed a new gene therapy that delivers protein packets to replace defective genes in muscles, halting disease progression and reversing pathology. The therapy uses adeno-associated viral vectors and aims to restore normal muscle health, with human trials expected to begin in two years.