Articles tagged with Genetic Disorders
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Researchers developed MOVA to evaluate the pathogenicity of missense variants based on their structural position. The new method showed superior performance in predicting pathogenicity, especially for hotspot mutations in ALS-causing genes like TARDBP and FUS.
Researchers developed Eye2Gene, an AI system that accurately identifies genetic causes of inherited retinal diseases from retinal scans. The system achieved higher accuracy than human experts in identifying causative genes, with a ranking score above 70% in over 70% of cases.
Indiana University School of Medicine researchers will investigate muscle-directed gene therapies and test alternative treatment options for degenerative disorders like Duchenne muscular dystrophy. The goal is to develop more successful and long-term ways to help patients living with muscle disorders.
Researchers found that only 6.8% of cancer patients underwent genetic testing within two years of diagnosis, with lower rates among Black, Hispanic, and Asian patients. The low rates are attributed to lack of integration of test results into cancer management and prevention.
Researchers found a link between bipolar disorder and potentially pathogenic mosaic mutations in genes associated with developmental disorders and autism spectrum disorder. Mosaic variants were also discovered in mitochondrial tRNA genes of patients with BD, suggesting a compromised contribution to the disease's molecular mechanisms.
Researchers found that a mutated PDE3A gene prevents kidney damage despite severe hypertension. The study suggests that this mutation could be used therapeutically to prevent chronic kidney disease.
A new study found that obstructive sleep apnea causes widespread changes in gene activity in mice, affecting up to 16% of genes, particularly in lung tissue. The findings may lead to diagnostic and therapeutic approaches, including blood tests tracking dysregulated gene products.
A new study maps French Canadian populations using a unique dataset of over five million records spanning 400 years, revealing the complex relationship between human migration and genetic variation. The research shows that the genetic structure of French Canadians is encoded within its genealogy.
Researchers found that individuals with only one defective allele can suffer from life-threatening diseases, challenging the assumption that defects in one allele are asymptomatic. The study highlights the importance of considering haploinsufficiency, where a single functioning gene is insufficient to prevent disease.
Gene therapy is being tested for rare skeletal dysplasia, affecting 1 in 200,000. Patients will receive a one-time infusion of viral vector containing correct gene sequence.
The Human Pangenome Reference Consortium expands and updates the human genome project with nearly full genomic data from 47 people of diverse ancestry. Researchers at UW Medicine made significant contributions to drafting the pangenome reference and studying variation within repetitive DNA, which could improve equity in human genome re...
The study identifies two patients with a novel neurodevelopmental disorder linked to MRTFB gene variants, which disrupt the protein's ability to regulate other genes. The mutations result in altered wing development in fruit flies and are associated with intellectual disability, difficulty speaking, and other symptoms.
A new study finds that one-time genomic screening of adults aged 20-60 for hereditary breast and ovarian cancer syndrome, Lynch syndrome, and familial hypercholesterolemia is cost-effective based on quality-adjusted life-year measures. The study suggests that this approach could improve disease management and reduce healthcare costs.
Researchers found that solriamfetol, armodafinil–modafinil, and pitolisant reduce excessive daytime sleepiness in patients with obstructive sleep apnea already using conventional therapy. However, patients may be more likely to discontinue the use of these medications due to adverse events including headache, anxiety, and insomnia.
A new study led by Mass General Brigham researchers found that 88% of rare disease experts agree on the benefits of genomic sequencing in newborn screening. The experts recommended screening for over 600 genetic conditions, including those associated with hemophilia and retinoblastoma.
A team of researchers from UNIGE and Beihang University has identified the FOXI3 gene as responsible for one form of Goldenhar syndrome, a rare congenital disorder. Pathogenic variants in both copies of the FOXI3 gene are necessary for the disease to develop, following an autosomal recessive inheritance pattern.
A new study reveals delayed diagnosis of HoFH leads to premature cardiovascular disease, highlighting the need for increased lipid screening and aggressive treatment. Despite available therapies, most patients require further lipid-lowering treatments.
A study published in Clinical Pharmacology & Therapeutics has identified six single nucleotide polymorphisms associated with opioid use disorder. The findings suggest that genetics play a role in the development of OUD, but environmental factors also contribute to its progression.
A molecular autopsy revealed that a young child with mild COVID-19 symptoms died from cardiac arrest due to an atypical coronary artery anomaly and underlying Noonan syndrome, a rare genetic disorder.
A novel genetic disorder has been identified in 21 patients from around the world, characterized by neurodevelopmental and craniofacial symptoms. The disorder is caused by rare variants in the MAP4K4 gene, which is involved in multiple signaling pathways, including the RAS pathway.
Research discovers that reduced levels of Hsp47 protein can prevent blood clots in humans, pigs, and bears, even when immobile for extended periods. The study's findings could lead to new medicines for people with inherited blood clotting disorders.
A nationwide UK research study has diagnosed around 5,500 children with severe developmental disorders, identifying the genetic cause of their condition. The Deciphering Developmental Disorders study used genomic sequencing technology to provide diagnoses for families from across the UK and Ireland.
Researchers found that a mutation in the SKD3 enzyme can cause 3-methylglutaconic aciduria (MGCA7), a genetic disorder associated with variable neurologic deficits and low neutrophil count. The mutation leads to protein aggregation and inactivates the enzyme, disrupting mitochondrial function.
Researchers developed an optimized genome-editing method that vastly reduces mutations, enabling more effective treatment of genetic diseases. The new technique uses a 'safeguard gRNA' to control DNA cleavage, reducing off-target effects and cytotoxicity.
Tulane University researchers discovered a possible genetic cause of hypermobility and hypermobile Ehlers-Danlos syndrome, linking it to folate deficiency due to the MTHFR gene variation. Elevated folate levels in blood tests can aid in diagnosis, while methylated folate has shown promising treatment results for patients.
A survey of allergists and immunologists reveals that diagnosing and treating hereditary angioedema can be challenging, particularly for patients in rural areas. Patients living in rural areas are more likely to face barriers to care, including longer travel times to reach medical facilities.
A recent study revealed the key to a protein that commonly causes blindness, including its role in transporting toxic compounds out of the eye. Mutations in this protein can cause vision loss in diseases like Stargardt disease, which affects approximately 30,000 people nationwide.
A new American Heart Association scientific statement provides guidance on interpreting incidental genetic variants associated with cardiovascular disease risk. The statement aims to determine whether a variant truly carries a health risk and suggests next steps for individuals and healthcare professionals.
A protein called PI3K plays a crucial role in immune cell function, and genetic variations disrupting its signalling have been identified as the root cause of two immunodeficiency disorders. The study reveals how minor disruptions in immune cell signalling can lead to immune deficiency or dysfunction.
Researchers have discovered a novel medication that effectively treats a rare hereditary muscle disease causing complete immobility and death. The treatment has also shown promise in treating severe statin-associated myopathy, with improved symptoms in patients awaiting treatment.
Researchers have successfully restored vision in mice with retinitis pigmentosa using a new CRISPR-based genome editing technique. The PE SpRY system corrected genetic mutations and restored normal electrical responses to light, preserving vision into old age. This breakthrough offers potential for treating inherited blindness.
Dr. Alexander M. Holtz received the award for his published article on heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies. The study highlights primary cilia-dependent defects in Hedgehog signaling, shedding light on a previously unknown autosomal dominant condition.
The ACMG Foundation presented four Next Generation Fellowship Awards to Amélie Pinard, Mina Tabrizi, Herodes Guzman, and others. These awards recognize the support of Bionano Genomics and Sanofi and aim to advance medical genetics and genomics specialties.
Molecular biologist Shixin Liu is recognized for developing cutting-edge biophysical tools to visualize and understand biomolecular machines. His work aims to establish a quantitative input-output relationship between environmental stimuli and gene expression profiles.
A cross-disciplinary team developed a convolutional neural network to analyze microscopy images of chromosomes with cohesion defects. The algorithm achieved 73.1% accuracy in classifying new images, streamlining experiments with chromosome analysis.
Children with Down syndrome are highly vulnerable to developing aggressive leukaemia due to a defect in the RUNX1 gene, which regulates blood cell formation. Researchers have identified a specific variant of the gene that promotes leukaemia development and discovered potential therapeutic approaches to correct this malfunction.
Researchers have identified a new method to predict which sarcoma patients will benefit from a potential new treatment. By inhibiting the plk1 gene, they were able to target and slow down the growth of sarcoma cells. This breakthrough could lead to improved treatment options for sickest sarcoma patients in 5-10 years.
A Geisinger study supports genetic testing as a standard of care for people with cerebral palsy, similar to other neurodevelopmental disorders. The analysis found similar genetic diagnostic yield for CP and NDD, suggesting earlier identification of genetic changes and potential treatment through genetic testing.
Researchers developed a microfluidic model of vascular malformation caused by PIK3CA mutation, allowing them to study disease mechanisms and test treatment efficacy. The model successfully replicated the disease's manifestations and responded to alpelisib, a newly approved PIK3CA inhibitor.
Wilate prophylaxis showed an 84% reduction in bleeding episodes and improved quality of life in children and adults with all types of VWD. The treatment reduced the frequency of bleeding episodes by lowering the mean total annualized bleeding rate compared to on-demand treatment.
Archaeologists have discovered the earliest example of angular notched trephination, a type of cranial surgery, in the Ancient Near East. The discovery, made at Megiddo, Israel, suggests that one brother may have had leprosy, making them potentially among the earliest documented examples of the disease.
Researchers discovered that administering oxygen during episodes of dystonia significantly reduces symptoms and improves quality of life. The study found that rapid oxygen delivery interrupts cortical spreading depression, a phenomenon linked to hypoxia and triggering the condition.
Researchers at the National Institutes of Health have discovered a possible cause for rare genetic disorders, facioscapulohumeral muscular dystrophy (FSHD) and arhinia. The toxic protein DUX4, overproduced in FSHD patients, not only kills muscle cells but also prevents the development of the human nose.
A recent study finds a strong association between hypertensive disorders of pregnancy and an increased risk of coronary artery disease and stroke. The study suggests that hypertensive disorders in pregnancy can be classified as risk factors for cardiovascular disease, highlighting the importance of prenatal care.
Scientists have successfully corrected limb length in a mouse model of FZD2-associated autosomal dominant Robinow Syndrome, a genetic disorder that affects skeletal growth and development. The treatment involves using a drug that stimulates the signalling pathway, resulting in significantly longer limbs than untreated mice.
A new genetic test can identify dogs at risk of a potentially deadly disorder resulting in excessive bleeding and bruising after surgical procedures. The DEPOHGEN test will allow for preventative treatment by administering antifibrinolytic drugs to dogs with the mutation before surgery.
A new nonhuman primate model of Usher syndrome has been confirmed, providing hope for the development of a treatment for this leading cause of blindness-deafness. The model, created using CRISPR/Cas9 technology, exhibits symptoms similar to those experienced by humans with the condition.
Researchers discovered a causal mechanism behind BPTA syndrome by identifying a change in the HMGB1 protein that disrupts cellular self-organization. This disruption leads to developmental disorders and predisposition to cancer, with hundreds of comparable genetic changes associated with various conditions.
A team of researchers discovered that a mutation in the HMGB1 protein causes a rare disorder with severe malformations, suggesting a link between protein droplets and genetic disease. The study's findings could have implications for understanding congenital malformations, common diseases, and cancer.
Researchers at USC Keck School of Medicine have identified two new avenues for treating diverse forms of ALS by suppressing genes and inhibiting proteins. The findings suggest that targeting SYF2 gene suppression and PIKFYVE kinase inhibition may lead to broadly effective treatments for the disease.
A team of scientists from ETH Zurich has developed a new diagnostic strategy for methylmalonic aciduria (MMA), a rare metabolic disorder affecting approximately one in 90,000 newborns. The approach, which considers genetic, RNA, protein, and metabolomics data, correctly diagnosed 84% of patients examined.
Researchers have solved an 80-year-old medical mystery that causes kidney damage in children and can be fatal in babies. They discovered a gene mutation is the primary cause, but found that around 10% of patients without the mutation still experience symptoms.
In a mouse model of laser-induced CNV, RORα expression was highly increased in the choroidal/RPE complex post-laser, while loss or inhibition of RORα worsened CNV with increased lesion size and vascular leakage. RORα negatively regulates pathological CNV development by modulating angiogenic response and inflammatory environment.
Researchers found that abnormal methylation processes lead to disruption of gene expression essential for brain development in people with Williams syndrome. The study suggests targeting treatments to correct these disruptions.
A study from Japan found that variations in psychiatric diagnoses across different cultures can affect the efficacy of antipsychotics in clinical trials. Researchers analyzed data from 28 double-blind randomized trials and found that psychotic features were associated with varying therapeutic responses to antipsychotic medications.
Researchers identified the molecular mechanism underlying Weiss-Kruszka syndrome, a rare neurodevelopmental disorder characterized by craniofacial anomalies and autistic features. The study reveals that the ZFP462 gene mutation leads to a failure to safeguard neural lineage specification during early embryonic development.
Researchers found that early prenatal alcohol exposure changes gene function and epigenome in placenta and human embryonic stem cells. These changes are associated with altered DNA methylation patterns, particularly in genes linked to nervous system development, such as DPPA4 and FOXP2.
A recent study published in Frontiers in Cell and Developmental Biology has found that the unique checkerboard pattern of cells in the organ of Corti is essential for proper hearing. The researchers discovered that when hair cells adhere to each other abnormally, it leads to apoptosis and a decrease in hair cell numbers, resulting in h...
Researchers discovered that radiation damage to paternal DNA is passed on to offspring through a highly error-prone repair mechanism. This leads to structural changes in the paternal chromosomes and causes developmental defects. Histone proteins play a crucial role in shielding damaged chromosomes from accurate repair.
The special issue highlights innovation across various stakeholders in newborn screening, including researchers, healthcare professionals, and families. Key findings include the development of novel technologies to screen, diagnose, and treat newborns, as well as long-term follow-up studies and NBS expansion.