Articles tagged with Genetic Disorders
A recent study conducted at the University of Helsinki found that the risk of intellectual disability in younger siblings is low. The study utilized exome sequencing to determine the genetic background of developmental disorders and identified 9 new candidate genes, including 1 potentially novel gene enriched in the Finnish population.
A novel genetic mitochondrial disorder has been identified in seven patients with biallelic variants in the LIG3 gene. The mutation leads to reduced LIG3 protein levels, diminished ligase activity, and consequent deficits in mitochondrial DNA maintenance.
Researchers found that damage to the autism-associated gene Dyrk1a leads to abnormal growth-factor signaling, undergrowth of neurons and brain, and eventually autism-like behaviors in mice. An existing drug, a growth hormone, restored normal brain growth in the affected mice.
Researchers created a zebrafish model to study pseudoxanthoma elasticum (PXE), a rare genetic disease causing calcification in the retina and vascular system. The new model provides insights into the disease's mechanisms and identifies potential drug targets.
An international team found a strong genetic link between the shape of our face and brain, with 76 overlapping locations. However, this connection does not predict behavioral traits or risk of conditions like Alzheimer's disease.
Researchers at University of Wisconsin-Madison discovered a disrupted Akt protein pathway in men with bipolar disorder, leading to memory problems and weakened brain connections. The findings offer a new target for treating bipolar disorder's often-overlooked cognitive impairments.
Researchers identify a new genetic disease causing delayed intellectual development and cataracts in children, with the COPB1 gene variant as the underlying cause. The study uses tadpoles to mimic human gene variants, demonstrating the link between the gene and disease.
A new study identifies gene variants that cause a metabolic deficiency in the eye, linking it to a rare eye disease called macular telangiectasia type 2. The research found that most patients have a serine deficiency that leads to toxic lipid accumulation, causing damage to retinal cells.
Researchers found that certain genes in inflammatory cells called glial cells increased their activity and grew longer appendages after death. This discovery challenges current understanding of post-mortem gene expression and cell activity, which may impact research on disorders like autism, schizophrenia, and Alzheimer's disease.
A new study reveals how proteins alter X chromosome architecture, contributing to its inactivation and potentially leading to cures for genetic disorders. The findings suggest that the shape and structure of the X chromosome play a vital role in gene silencing.
A single letter difference in a gene leads to sickle cell disease affecting 20 million worldwide, with varying life expectancy depending on social and environmental factors. A new review calls for integrative studies to better understand the disease globally and develop locally-appropriate interventions.
A new high-throughput biological assay technique has been developed to systematically analyze the impact of nearly 100,000 genetic variants on transcription factor binding to DNA. The study found that noncoding genetic variant rs7118999 can affect DNA binding with a transcription factor, regulating blood lipid levels in type 2 diabetes.
A recent study has identified a novel gene, POU1F1, associated with a development disorder of pituitary origin in Karelian Bear Dogs. The research found that the disease is inherited recessively and can be diagnosed using a gene test, paving the way for its eradication from the breed.
Researchers at Penn Medicine found that genetically manipulating a fly's Imitation SWItch/SNF (ISWI) gene led to marked sleep disturbances, memory problems, and social dysfunction. The study suggests that targeting sleep may improve symptoms in children with neurodevelopmental disorders
Researchers have identified a brain enzyme that activates dormant neural stem cells, enabling them to proliferate and generate new neurons. The study found that the enzyme Pr-set7 plays a crucial role in maintaining genome stability and regulating cell cycle, leading to reactivation of neural stem cells.
Researchers found modest differences in gene expression between individuals with a mental disorder and those without, but more pronounced differences in transcript levels. The study identifies specific transcripts associated with each disorder, providing insights into their distinctness and potential treatment responses.
A new study by UC San Francisco and UC Berkeley scientists has identified a crucial biological link between autism risk genes and the process of prenatal neurogenesis. The research also highlights the protective role of estrogen in preventing disruption to this process, which can steer the brain on a normal course of development.
Researchers discovered a strong link between genetic changes and cerebral palsy, which often co-occurs with other neurodevelopmental disorders. The study identified disease-causing changes in 229 genes, decreasing the risk of recurrence for future children born to affected parents.
Researchers discovered that three patients with DOCK8 deficiency spontaneously repaired their faulty genes through somatic reversion, restoring normal immune function. This breakthrough has implications for future therapies and treatments for the often-fatal disease.
A recent study found 18 specific gene loci linked to PTSD, providing potential new targets for treatment. The research validated the disorder's underlying biology and genetic overlap between symptoms.
A rare genetic syndrome caused by mutations in the gene SATB1 has been identified, characterized by neurodevelopmental delay, intellectual disability, and muscle tone abnormalities. Variations in the gene lead to different levels of protein activity, resulting in varying symptoms and severity.
A recent study analyzing over 250,000 genomes identifies genetic similarities between PTSD and other mental health disorders, including anxiety and bipolar disorder. The research also suggests that certain medications used for other conditions may be effective in treating individual symptoms of multiple disorders.
Research suggests that primary care physicians play a smaller role in high-value spending than previously thought, with most PCPs contributing less than 9% of low-value spending per patient. Genetic testing is also limited in predicting disease in healthy individuals, highlighting the need for caution in its use as a preventive tool.
The Marlene and Spencer Hays Foundation has awarded COMBINEDBrain a $68,000 grant to support the development of treatments for rare genetic neurodevelopmental disorders. The consortium of patient advocacy groups, researchers, and clinicians will use the funding to prepare for clinical trials and bring in more researchers.
Research identifies two causal genes, CHD3 and CHD8, contributing to Chiari 1 malformation. Children with unusually large heads are four times more likely to be diagnosed with the condition. The study's findings may lead to new ways to identify people at risk before serious symptoms arise.
A study published in Science Translational Medicine shows that MEK inhibitors can stimulate PAX6 expression in the eye of mice with aniridia, partially normalizing their eye development. Researchers also found that topical administration of the drug enhanced PAX6 and cleared corneas, allowing mice to see better.
Scientists have discovered 17 genetic abnormalities that cause brain aneurysms, providing a new understanding of the disease and potential markers for instability. The study also highlights the importance of genetic predisposition to high blood pressure and smoking in developing intracranial aneurysms.
Researchers found a molecular basis for the connection between disrupted circadian rhythms and substance abuse in mice with an NPAS2 gene mutation. The study revealed sex-based differences in behavioral changes related to cocaine administration and striatum activation.
Researchers have identified the BICRA gene as a new disease gene involved in neurodevelopmental disorders. The study found that mutations in the BICRA gene can cause disease in humans and flies, and may provide new insights into how to develop individualized medical plans for patients with similar conditions.
Scientists at Scripps Research have developed a new strategy to treat RNA-repeat expansion disorders, which affect millions of people worldwide. The compound has shown promise in early tests against myotonic dystrophy 1 and Fuchs endothelial corneal dystrophy by neutralizing toxic RNAs and preventing their capture of essential proteins.
Researchers analyzed 1,330 disease-associated genes and identified 18 features associated with pathogenic variants and 14 with benign variants. The study provides a molecular atlas of pathogenic mutations and aims to accelerate personalized drug discovery and precision medicine.
Researchers found that gene mutations underlying inflammatory skin disorders also delay wound healing by disrupting the balance of immune cells and inflammation. Treatment with a TLR4 inhibitor showed promise in normalizing the wound healing process in mice with these mutations.
Researchers at UNC School of Medicine show that gene editing with CRISPR-Cas9 can restore function in an animal model of Angelman syndrome. The therapy was effective in restoring the UBE3A enzyme in human neurons and treating deficits in an animal model, offering a long-lasting treatment or cure for this debilitating disease.
A research team at Greenwood Genetic Center successfully restored normal heart and valve development in an animal model for Mucolipidosis II using small molecules. The study used cathepsin protease inhibitors to normalize cardiac development in a zebrafish model with genetic mutations that disrupted growth factor signaling.
Researchers identified 28 new genes associated with developmental disorders, including 500 families, using the largest genetic resource available. The study estimates that another 1,000 genes linked to these conditions remain undiscovered.
Researchers create an artificial C-to-U conversion system using APOBEC1, allowing for the restoration of mutated genes and potentially treating genetic disorders. The system was tested on blue fluorescent protein (BFP) RNA with a 199T>C mutation, showing high editing efficiency.
A University of Cincinnati researcher is conducting a study on pharmacogenomics and opioid addiction. The goal is to identify genetic markers associated with OUD and compare them between patients who have and don't have the condition.
Researchers have made a groundbreaking genetic discovery that sheds light on the cause of rare nerve disorders, including Rett syndrome. The study found two new mutations in the KIF1A gene to be responsible for these conditions.
A new study by UCSF researchers uses exome sequencing to identify genetic diseases as the underlying cause in 37 cases of nonimmune hydrops fetalis, a life-threatening condition. The study finds that genetic diagnoses are critical for families and healthcare providers to guide prenatal management strategies.
A study published in Nature Genetics developed a more accurate predictor of coronary artery disease based on genetic factors by comparing genome-wide association analysis across different ancestries. The researchers identified 48 genetic loci associated with the disease, including eight previously unknown variants.
The Murdoch Childrens Research Institute will establish a biobank of biological samples from people with Prader-Willi Syndrome and Angelman Syndrome, two rare genetic diseases affecting 1 in 15,000 people. The biobank will help researchers better understand the causes of these disorders and develop new treatments.
A new study published in Biological Psychiatry found that individuals with secure attachment styles have neutralized genetic risk factors for PTSD symptoms. The ability to form loving and trusting relationships with others was found to be a strong protective factor against severe PTSD symptoms.
A recent NIH-funded study confirms that about 14% of cerebral palsy cases may be linked to rare genetic mutations, which control brain circuit development during early childhood. The results led to recommended changes in treatment for at least three patients and provide new insights into the disorder.
A NIH-funded study identified neuronal abnormalities in cortical cells from individuals with 22q11.2 deletion syndrome, a genetic disorder associated with mental illnesses and developmental delays. The study suggests that overexpression of the DGCR8 gene and exposure to certain antipsychotic drugs can restore normal cellular functioning.
Researchers at Medical University of South Carolina found that genetic variation in three specific brain genes can predict the effectiveness of naltrexone in treating alcohol use disorder. Patients with certain combinations of gene variations showed consistently reduced drinking when taking naltrexone, making personalized medicine a po...
Researchers successfully used gene therapy to overcome cardiac effects of Friedreich's ataxia in a mouse model, achieving exercise performance similar to healthy littermates. The treatment delivered the frataxin gene via adeno-associated virus (AAV) and showed promising results.
Researchers found that heroin use alters the expression of the FYN gene, which regulates Tau production and is associated with neurodegenerative diseases like Alzheimer's. The study suggests that FYN inhibitors may be a promising therapeutic tool for opioid addiction.
Researchers at Johns Hopkins University have developed a computational system called Watershed to predict the functions of rare genetic variants in individual genomes. This breakthrough could lead to the identification of genetic causes for previously undiagnosed disorders and health issues, with implications for public health.
A study by University of Pennsylvania researchers describes an effective gene therapy for Krabbe disease in dogs, which has shown promising results with no significant symptoms after four years. The treatment approach, using the AAV9 vector, has also been found to positively affect both central and peripheral nervous systems.
A recent study published in Psychological Science found that marriage to a spouse with a history of parental alcohol misuse increases the likelihood of developing alcohol use disorder. The research suggests that it's not the spouse's genetic makeup but rather their upbringing by an AUD-affected parent that influences this risk.
Researchers at ETH Zurich have developed RNA molecules that can compensate for gene mutations in bone marrow cells, a potential breakthrough for treating rare hereditary diseases. The molecules bind to the body's own RNA and restore ferrochelatase enzyme production, which is deficient in patients with erythropoietic protoporphyria.
Researchers studied epigenetic modifications associated with posttraumatic stress disorder (PTSD) in trauma survivors, finding a link to the gene NTRK2 and reduced PTSD risk. The study revealed that epigenetic modification of NTRK2 was predictive of PTSD risk, but its relationship with PTSD is complex and influenced by multiple factors.
A comprehensive assessment of genomic sequencing as a standalone newborn screening tool found it comes up short, missing about 160 cases and incorrectly identifying 8,000. However, sequencing can still be useful in suspicious cases not clearly identified by MS/MS.
A breakthrough study using gene therapy to target the inner retina has prevented blindness in a mouse model of CLN3 Batten disease. The treatment led to significant survival of bipolar cells and preserved retinal function, according to researchers.
Researchers identified thousands of potentially functional SNPs associated with changes in gene expression, highlighting the unique value of using iPSC-derived neurons as a model. The study advances understanding of genetic causes of neuropsychiatric disorders and offers a path to novel disease treatments.
A study suggests that a single point mutation in the Cav1.2 channel, G406R, may explain the mechanism of autism spectrum disorder (ASD). The mutation causes abnormal calcium overload leading to heart problems and spontaneous gene activation, resulting in uncontrolled long-term dysregulations.
A new therapeutic approach for CLN3 Batten disease has been developed by a team led by Rosalind Franklin University researcher Michelle Hastings. The treatment uses antisense oligonucleotides to target the mutated gene causing the disease, showing promise in rodent models and human cells cultured from patients.
Researchers at UC Berkeley have obtained the first 3D structure of a base editor, a promising DNA manipulation tool that can precisely replace one nucleotide with another. This discovery could lead to more versatile and controllable base editors for use in patients, addressing 60% of known genetic diseases.
A new study published in PLOS Medicine shows that genetic pre-screening can reduce the number of screening tests needed to identify individuals at risk for osteoporotic fractures by up to 41 percent. This could lead to cost savings and more efficient screening programs.
A research team from Göttingen University has re-examined the skin of Dark Ronald XX and found no evidence of the PLOD1 mutation responsible for Warmblood fragile foal syndrome. The study suggests that the disease may have originated from a different genetic source, challenging previous theories.