Research on inherited diseases and their causes. Covers RNA therapies, hidden diabetes subtypes, pulmonary disease, and prenatal genetic testing.
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.
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.
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.
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.
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 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.
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 found altered synaptic architecture in neurons expressing mutant PrP before primary symptoms appear. Treatments targeting synapse health may help combat the diseases' symptoms.
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 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.
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.
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.