Articles tagged with Genetic Disorders
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Researchers at Baylor College of Medicine have identified new variants of CDKL2 and CDKL1 genes associated with developmental disorders, including epilepsy. The study proposes a mechanism by which defective variants cause neurological symptoms in affected individuals.
Research from the Long Life Family Study found individuals from long-lived families have significantly better vascular health than the general population. The study identified key risk factors and four genomic regions linked to PAD risk, providing novel insight into underlying mechanisms.
A new Clinical Research Center of Excellence will improve care for individuals with SYNGAP1-related disorders and expand the Natural History Study to include Prospective Multidisciplinary Multisite Study. The center, established at Children's Hospital Colorado, aims to accelerate research and provide specialized care.
A study found that adding blood metabolite data to genetic risk scores improves glaucoma prediction accuracy, particularly in individuals at high genetic risk. Higher levels of lactate, pyruvate, and citrate were associated with a reduced risk of glaucoma.
A study uncovered new genetic clues explaining why some prostate cancers grow slowly while others become life-threatening, identifying 223 mutations that determine tumor progression. The research shows germline and somatic variability work together to initiate and drive prostate cancer.
Rare genetic diseases affect 300 million people globally, with one in three dying before age five. Global collaborations are transforming clinical care by leveraging genomic technologies and evidence-based approaches.
Researchers developed an AI approach to identify genes contributing to neurodevelopmental disorders like autism spectrum disorder, epilepsy, and developmental delay. The tool enhances gene discovery by predicting additional genes involved in these conditions.
Researchers identified a single gene, CIROZ, responsible for pediatric heart defects and abnormal organ placement. The study found that mutations in this gene can lead to severe heart defects at birth, emphasizing the importance of preventive strategies and curative therapies.
Australian Red Cross Lifeblood researchers surveyed over 4,000 people with haemochromatosis and found that their blood and plasma can be used to save lives. The study highlights the potential for these donors to increase blood supplies globally, particularly in countries accepting plasma donations from individuals with this condition.
Researchers found that a rare genetic syndrome causes different damage mechanisms in male and female brains, affecting neurogenesis and energy production. The study suggests that the ADNP protein plays a crucial role in brain development and aging, with distinct functions in males and females.
A Danish study reveals that testosterone treatment can nearly halve the mortality rate among men with Klinefelter syndrome, reducing cardiovascular disease risk and increasing life expectancy. The treatment also improves quality of life and may have positive effects on metabolism, muscle mass, and bone health.
The Rice University lab, in collaboration with Baylor College of Medicine, has developed a new gene-editing strategy called Repair Drive that improves the effectiveness of gene therapies in the liver. The technique enables the repair of liver cells at higher rates and equips them with a selective advantage to outcompete incorrectly edi...
A team of geneticists discovered a gene 'silencer' in junk DNA that prevents the devastating neurological disease autosomal dominant leukodystrophy (ADLD). The silencer element regulates lamin B1 expression, only affecting one type of cell, and its presence can spare patients from fatal symptoms.
Scientists at Duke University have discovered a master epigenetic switch that can be activated using CRISPR to compensate for missing genes in Prader-Willi syndrome. This approach could potentially treat the disease by turning on naturally suppressed genes from one parent, addressing the underlying genetic defect.
Researchers in the Galej Group at EMBL Grenoble have provided new structural insights into the U11 snRNP subunit of the minor spliceosome, revealing its ability to specifically identify rare substrates. The study sheds light on the complex assembly pathway of the minor spliceosome, which is critical for processing minor introns in genes.
A groundbreaking study analyzed data from over 78,000 cancer patients to identify nearly 800 genetic changes impacting survival outcomes. The research also discovered genes significantly associated with survival in various cancers, such as breast, ovarian, skin, and gastrointestinal cancers.
The Syngap Research Fund's 2024 Impact Report showcases the organization's progress in accelerating SYNGAP1 research, collaborating with academia and industry, and advocating for patients' rights. The report highlights seven core scientific programs and over $6M in funding for SYNGAP1-related disorders science.
Thousands of proteins rely on their tails to become successfully embedded within the cellular membrane. Researchers discovered a protein called YidC that helps short tails cross the fatty membrane, enabling functional protein-tail integration.
A new drug-free intervention targets the root cause of progressive loss of neural function in SMA by gradually reawakening functionally silent motor neurons. Early results show improved leg muscle strength and walking in adults with SMA, regardless of symptom severity.
Researchers at the University of Maryland discovered multiple pathways for dsRNA molecules to enter cells, challenging previous assumptions about RNA transport. They found that a protein called SID-1 plays a key role in regulating genes across generations, which could lead to better targeted treatments for human diseases.
A new study adds weight to the safety and effectiveness of a gene therapy for hypophosphatasia, a rare inherited disorder that causes abnormal bone development. The treatment, AAV8-TNAP-D10, has shown promising results in mice models, with female mice achieving improvements in bone and teeth at lower doses.
UCSF researchers found that when brain cells of female mice express only a maternal X chromosome, their memory and cognitive skills deteriorate faster. This study could explain the variation in brain aging between the sexes and individual women.
A new study suggests that stalled amyloid protein production contributes to the development of Alzheimer's disease. Researchers found that rare familial genetic mutations linked to early-onset dementia cause deficiencies in multiple APP processing steps, leading to neurodegeneration.
A European consortium has successfully diagnosed over 500 patients with unknown conditions, including rare neurological disorders and hereditary cancers. The diagnoses were made possible by extensive collaboration and reanalysis of existing genome data.
Researchers found subtle brain changes in people with Huntington's disease 20 years before symptoms appear, offering hope for earlier interventions. The study identified early markers of neurodegeneration through advanced imaging and biomarkers.
The new NCCN Guidelines for Patients: Genetic Testing for Hereditary Breast, Ovarian, Pancreatic, and Prostate Cancer provide evidence-based recommendations for assessing and testing for inherited genetic mutations. The resource aims to inform individuals about their cancer risks based on personal or family history.
Batten disease, a neurodegenerative disorder, affects the bowel wall's enteric nervous system, causing degeneration and bowel symptoms. Gene therapy has been shown to slow symptoms and extend lifespan in mice by preventing enteric neuron degeneration.
Two non-retinoid compounds were identified that improve cell surface expression of rhodopsin in 36 genetic subtypes of retinitis pigmentosa and protect against retinal degeneration in mice with the disease. The treatment showed improved overall retina health and function, prolonging photoreceptor survival.
A new study led by UCL researchers reveals that people at risk of hereditary dementia significantly impact their choices about having children and parenting. Genetic risk is viewed in the context of other factors, with concerns including practical and emotional challenges of caring for someone with familial frontotemporal dementia.
A massive study of human protein variants found that 61% of disease-causing mutations destabilize proteins, leading to cataracts, neurological disorders, and muscle-wasting diseases. The researchers created the Human Domainome 1 catalogue, which includes over half a million mutations across 522 human protein domains.
Trametinib reduces mortality and morbidity in children with severe HCM caused by pathogenic variants in the RAS/MAPK pathway. The study provides strong evidence for personalized treatment targeting the underlying genetic causes of RASopathies.
Researchers have developed a new genetic engineering tool, mvGPT, that can precisely edit genes, activate gene expression, and repress genes all at the same time. The technology has shown promise in treating genetic diseases such as Wilson's disease and type I diabetes by targeting multiple genetic conditions simultaneously.
Researchers discovered that some cells can inactivate one parent's copy of a gene, influencing disease outcomes. This phenomenon could help explain diseases with flares or those triggered by environmental factors.
Researchers found that bumetanide treatment normalizes neonatal social communication in newborn pups with the fragile X mutation, but reduces post-pubertal social interaction. The study suggests stage-specific effects on social development and raises questions about timing and dosing of bumetanide for targeted interventions.
Dr. Michael Courtney's team will use advanced phenotyping techniques to assess how SYNGAP1 missense variants impact protein function, focusing on pathogenic or uncertain variants. The project aims to inform therapeutic strategies for patients with SYNGAP1-related disorders through drug repurposing and functional assays.
A preclinical study suggests the experimental compound K884 can restore lost muscle function in Duchenne muscular dystrophy (DMD) patients by strengthening muscle repair. The drug targets specific enzymes, allowing muscle stem cells to develop into functional tissue.
Researchers compared urine NAA levels in patients with mild and typical Canavan disease, finding lower levels in those with the milder form. This discovery has potential for a rapid and cost-effective way to screen for CD incidence and severity.
Researchers at Johns Hopkins Medicine have discovered that excessive Gata4 protein accumulation in vascular smooth muscle cells contributes to aortic aneurysm vulnerability in Loeys-Dietz patients. The study's findings may help refine treatments for this genetic disorder, which affects connective tissue systems.
The Jackson Laboratory (JAX) has been awarded a $230,000 grant from the SynGAP Research Fund to characterize a mouse model for SYNGAP1-Related Disorders. This work aims to test innovative tRNA suppressor therapies and generate patient-derived research models.
A scoping review found associations between myositis disease activity and gluten exposure in patients with inflammatory myopathies and celiac disease. The study suggests that gluten may act as an exogenous antigen driving myositis in genetically predisposed patients.
SynGAP Research Fund appoints Virginie McNamar as President and COO, bringing extensive Rare Disease advocacy experience. The organization aims to accelerate progress with robust organizational structure and strategic focus.
This special issue of Calcified Tissue International presents a collection of critical reviews and original research articles on osteogenesis imperfecta (OI), covering essential aspects of the condition, including its nosology, genetics, and clinical presentation. The contributions also discuss treatment strategies for both children an...
The WHO's Technical Advisory Group on Genomics published an article outlining challenges and actions to promote the use of genomics in public health. The group aims to increase awareness and provide technical guidance to accelerate access to genetic technologies, enabling preventive measures and targeted treatment for various diseases.
A new project at the University of Kansas aims to examine medical ableism and its effects on health outcomes among people with disabilities. The study will gather information directly from individuals with disabilities through the National Survey on Health and Disability.
A new study identifies a biallelic GGGCC repeat expansion causing NAXE-related mitochondrial encephalopathy in a three-year-old patient. The team found the expansion was due to maternal chromosome 1 uniparental disomy, leading to transcriptional suppression and severe mitochondrial dysfunction.
A new study introduces the PWAS Hub, a powerful tool that explores gene-disease connections across 99 common diseases. The platform identifies genes linked to specific conditions and provides valuable genetic insights for clinicians and researchers.
Global experts and medical professionals gathered in Tashkent to address rare diseases, enhancing patient care. The forum highlighted key findings on diagnosis and treatment of rare genetic disorders in Uzbekistan.
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 a protective inherited mutation in the ADNP gene that enhances protein interactions and offers protection against developmental disorders. The study challenges previous assumptions about genetic mutations and their impact on brain development.
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.
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.
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.