Articles tagged with Genetic Disorders
Researchers identified a key mutation in a tumor suppressor gene as the cause of a rare genetic disorder that leads to myelodysplastic syndrome. Children with this condition develop a shortage of normal blood cells due to disrupted bone marrow function.
Researchers at JAX will study mouse models of inherited RPE-driven disease to identify potential molecular pathways for druggable targets. Their goal is to prevent, delay onset or decrease the severity of age-related macular degeneration and other heritable retinal diseases.
A team of researchers has identified the cause of a rare genetic disorder known as dystonia, which affects 70,000 people in the UK. The study found that mutations in the hippocalcin gene lead to overactivation of specific calcium channels, causing abnormal neuronal signaling and movement disorders.
The Muscular Dystrophy Association (MDA) and the Charcot-Marie-Tooth Association (CMTA) have awarded a $119,999 grant to study gene therapy for CMT1X. The two-year research project aims to examine the effectiveness of repeated injections and treatment at later stages of the disease.
A new Michigan State University study found that refugees diagnosed with post-traumatic stress disorder (PTSD) have an overactive gene associated with mental health that disrupts their stress defense system. This causes the body to overreact to stress, leading to increased symptoms of PTSD.
Researchers at the University of Helsinki have identified a novel gene associated with acute respiratory distress syndrome (ARDS) in Dalmatian dogs. The gene study found that the disorder results from a defect in an anillin protein which binds to actin, leading to abnormal regeneration capacity of the bronchiolar epithelium.
A team of scientists at the University of California San Diego has created a cellular model of anorexia nervosa using induced pluripotent stem cells, revealing a potential genetic link to the disease. The study identified a novel gene, TACR1, that may contribute to the development of eating disorders.
Researchers found master genes that control hundreds of other genes linked to various neurological and psychiatric disorders. The study suggests that modifying these master genes could lead to new treatments for brain diseases.
Researchers identified an enzyme called CYP46A1 that eliminates both cholesterol and cholestanol from the brain, reducing the formation of debilitating brain lesions. The discovery could inform clinical trials to test the enzyme's potential as a therapeutic target for these diseases.
Researchers at University of Pittsburgh found a potential inverse relationship between schizophrenia and rheumatoid arthritis, with eight genes showing opposing effects on risk. The study suggests that immune system dysfunction may play a role in both disorders.
Researchers from the University of Würzburg discovered four variants of the GLRB gene associated with anxiety and panic disorders, triggering an
Researchers uncovered 91 genes linked to neurodevelopmental disorders, including 38 previously unknown risk factors. The study found overlap between conditions like autism and intellectual impairments, with some genes associated with both. Additional findings suggest less severe mutations may cause autism without intellectual disability.
A Northwestern University study found that eliminating certain receptor genes in mice leads to obsessive-compulsive disorder (OCD)-like behaviors, such as excessive grooming. The research provides strong evidence for the biological basis of OCD and may lead to new treatments for the disorder.
A new genomic technique has been devised to quickly and accurately detect imprinted genes expressed in each cell type, improving diagnosis of genetic diseases like Prader-Willi and Angelman syndrome. Researchers have identified novel imprinted genes and demonstrated their tissue-specific expression.
Researchers have identified additional genes that may contribute to the metabolic disorder TMAU, suggesting that genetic testing may not be sufficient to identify all cases. This new insight provides reassurance to those who report fish-like odor symptoms without mutations in the FMO3 gene.
Researchers identified key genes in copy number variants (CNVs) associated with neurodevelopmental disorders, including autism, schizophrenia, ADHD, and intellectual disability. These genes have a 'Goldilocks' effect, requiring precise duplication levels to function properly.
Researchers at the University of Montreal Hospital Research Centre have identified a new syndrome in mice with deleted Armc5 gene, characterized by adrenal gland abnormalities and immune system compromise. The study opens up new avenues for understanding and treating diseases linked to the ARMC5 gene.
A new device, SEEKER™, has received FDA clearance to detect four types of lysosomal storage disorders from dried blood spots. This development was made possible with NIH funding and shows a faster screening process compared to conventional methods.
Researchers have discovered 30 genes as potential therapeutic targets for reversing Rett syndrome, a severe form of an autism spectrum disorder affecting approximately 15,000 girls and women globally. The study, led by Dr. Antonio Bedalov at Fred Hutchinson Cancer Center, aims to reactivate the silenced MeCP2 gene in affected individuals.
Researchers at MUSC have identified novel potassium channel genes that correlate with drinking levels and may advance personalized medicine approaches for treating heavy drinking. A KV7 channel-positive modulator reduced heavy alcohol consumption in mouse models, suggesting these genes as promising therapeutic targets.
A complete clinical and genetic profile of steroid 11-hydroxylase deficiency has been identified, a rare inherited disorder causing genital masculinization in females. The study may lead to prenatal diagnosis and treatment to prevent genital ambiguity.
Genome editing offers promise for treating genetic disorders but raises major technological and ethical concerns. The ACMG Board of Directors emphasizes the need to overcome current limitations and address issues such as off-target effects and epigenetic marks.
Researchers have discovered two novel genetic risk factors for bipolar disorder, FADS1 and FADS2, which play a crucial role in lipid metabolism. These findings support the notion that lipid abnormalities may contribute to the development of BD.
A study at Columbia University Medical Center found that a missing CRKL gene causes kidney and urinary tract defects in people with DiGeorge syndrome. The team analyzed genomic data from over 2,600 children with congenital anomalies of the kidney and urinary tract.
A recent genetic study discovered 14 new developmental disorders in children, providing diagnoses for over 1,000 individuals and their families. The study revealed that nearly 400,000 annual births worldwide are affected by rare developmental disorders caused by spontaneous mutations.
A new genetic immunodeficiency has been characterized, allowing for the identification of patients at risk of fatal illnesses. Researchers have developed a unique platform to detect subtle immune system defects, enabling clinicians to provide timely treatments and preventive measures.
Researchers successfully used CRISPR-Cas9 technology to repair genetic mutations in blood stem cells of patients with chronic granulomatous disease, a rare and life-threatening disorder. The engineered cells maintained their gene edits long-term without side effects when implanted into mice.
Researchers successfully repaired a defective gene in blood-forming stem cells from patients with X-linked chronic granulomatous disease, suggesting a potential treatment approach. The study used CRISPR-Cas9 technology to correct a specific mutation in the CYBB gene, restoring normal functioning of white blood cells.
Richard Myers is investigating the Cyclin G-associated kinase (GAK) gene and its role in Parkinson's disease. His research aims to understand how increasing GAK levels may prevent cell death in PD.
Researchers at Duke University Medical Center have identified a potential treatment for Prader-Willi syndrome using G9a inhibitors. The study suggests that these small molecules can activate the maternal copy of the gene responsible for the disorder, leading to improved growth and lifespan in mice with Prader-Willi syndrome.
A low-carbohydrate ketogenic diet has been shown to alleviate symptoms of a rare inherited intellectual disability in mice genetically engineered with a Kabuki syndrome-like condition. The study suggests that correcting an imbalance in chromatin's open and closed states may improve mental function, offering new hope for treatment.
Researchers at the University of Rochester Medical Center have identified a potential new treatment approach for lysosomal storage disorders, which cause disruptions in cellular functioning. The study found that repurposed drugs can overcome toxic build-up in affected cells, improving survival rates and quality of life.
A team of researchers at the National Institutes of Health has uncovered a possible biochemical mechanism behind ACDC disease, which causes calcium buildup in the arteries. The study suggests that treating this condition with drugs like etidronate could help reduce calcification and potentially lead to an effective treatment.
Scientists have discovered a new mutation in the PKD1L1 gene associated with laterality defects and complex congenital heart disease. The study provides hope for affected families by offering prenatal or pre-implantation genetic diagnosis to prevent the condition from being passed on.
A new UCLA study confirms and extends earlier findings that the brains of people with autism have a distinctive pattern of unusual gene activity. This abnormality suggests possible targets for future autism drugs, and provides insights into brain development during the first decade of life.
Researchers found mutations in three genes involved in forming the hair shaft, which causes uncombable hair syndrome, a rare condition affecting around 100 documented cases worldwide. The discovery provides insights into mechanisms of healthy hair formation and secures clinical diagnosis with molecular genetic methods.
Researchers at Columbia University Irving Medical Center have demonstrated that vision loss associated with retinitis pigmentosa can be slowed dramatically by reprogramming the metabolism of photoreceptors. The treatment aims to correct downstream metabolic aberrations, rather than the underlying genetic defect.
Researchers have successfully used gene therapy to correct the faulty NPC1 gene in mice with Niemann-Pick disease type C1, improving symptoms and lifespan. The treatment has the potential to halt disease progression and improve quality of life for patients.
Researchers identified 13 gene groups common to all three mental disorders, including those involved in protein production, immune response and brain cell communication. The study suggests that targeting these shared pathways could lead to new treatment strategies.
Researchers have designed small compounds to correct mitochondrial dysfunction in Charcot-Marie-Tooth disease, potentially slowing its progression. The compounds, GoFuse and TetherX, work by targeting the mitofusin 2 protein, which is essential for healthy mitochondria and tissues.
Researchers found that providing GlcNAc supplement to Pngl-deficient flies prevents death, with nearly 70% surviving to adulthood. The study suggests a potential diet-based treatment for the rare disease NGLY1 deficiency.
Researchers used electronic health records and genome sequences to identify two genetic variations linked to age-related hearing impairment. The study found novel variations near the ISG20 gene and within TRIOBP, a gene previously associated with another type of hearing loss.
A Duke University study found that three genetic causes of microcephaly in mice share a common mechanism, involving the regulation of p53 protein. The research may improve understanding of microcephaly, autism, and other neurodevelopmental disorders.
A five-year study has identified 30 inherited genes linked to intellectual disability, a neurodevelopmental disorder affecting 213 million worldwide. The discovery could lead to DNA screenings and personalized therapeutic protocols to improve intellectual function.
A research team has identified mutations responsible for midline craniosynostosis, a type of skull-fusion disorder that affects the top of the skull. The study found that rare genetic variants in one gene interact with common changes near another gene to cause the disorder.
Researchers at Children's Hospital Los Angeles analyzed gene-disease findings to understand the co-occurrence of neurodevelopmental and mental illness with physical disorders. The study highlights the importance of a holistic approach to treating individuals, focusing on both physical and mental symptoms.
Researchers have discovered a nanotech-based delivery system that can carry the new drug into cells more effectively, improving its efficacy and allowing lower doses. This treatment shows promise for treating 50+ genetic disorders requiring brain targeting.
A comprehensive study on canine hereditary disorders found that 1 in 6 dogs carried genetic variants for diseases, and 1 in 6 previously unreported variants were discovered in a specific breed. The research highlights the importance of collaboration between academia and industry to improve dog health and welfare.
Researchers have linked a neurodevelopmental disorder to a mutation in the SON gene, which plays a crucial role in essential cellular processes. The discovery provides a new diagnostic tool and offers potential treatment options for patients with this condition.
A new approach uses computational tools and machine learning to compare patients' genomes to existing gene databases, accelerating diagnosis in rare genetic diseases. Comparing patient genes to their parents' also helps identify new disease-causing mutations.
Researchers discovered gene mutations linked to three new rare congenital heart disorders and found evidence of genetic differences between two forms of the disease. The study provides valuable insights into the genetic causes of non-syndromic CHD, which affects 90% of CHD patients worldwide.
Researchers have identified a new genetic syndrome tied to defects in protein transport, causing craniofacial abnormalities and developmental delays. The study found that mutations in the ARCN1 gene disrupt normal protein trafficking, leading to intellectual disability and bone development issues.
According to a study published in JAMA, children with trisomy 13 and 18 showed significant improvement in survival rates after undergoing surgical interventions. The study found that one-year survival for these children was around 20-30%, with some even surviving up to 10 years.
Researchers describe expanding scope of gene therapy targeting CNS diseases, including Alzheimer's and ALS. The article highlights rapid progress in viral vector development and delivery strategies for treating these conditions.
Scientists at Stowers Institute for Medical Research discovered a unifying cellular mechanism underlying Treacher Collins syndrome, a rare congenital disorder. Loss-of-function mutations in genes TCOF1, POLR1C, and POLR1D cause the condition, which affects craniofacial development and survival of progenitor neural crest cells.
Scientists discover gene BCL11A responsible for a new intellectual disability syndrome, which affects brain development and function. The study reveals that two healthy copies of the gene are necessary for normal brain cell development.
Researchers suggest combining genetics and cognitive bias studies to better understand mental health, finding that shared genes can make individuals prone to both positivity and negativity.
Researchers identified STN1 gene mutations as the cause of Coats plus syndrome, a telomeropathy that affects multiple tissues. The study found that cells with dysfunctional telomeres and decreased capacity to divide were characteristic of patients with Coats plus syndrome.
Researchers from Scripps Florida have discovered a link between bipolar disorder and the striatum, a brain region involved in motor planning and reward perception. The study identified 14 genes differentially expressed in bipolar patients compared to non-bipolar controls, suggesting a causal role in the disorder.
Researchers at Newcastle University have developed a genetic test to diagnose mitochondrial disorders, identifying six patients from four families affected by the disease. The test, which takes 2-3 days to produce results, has the potential to revolutionize diagnosis and treatment of this debilitating condition.