DiseasesDisordersDisorderAmyotrophic lateral sLinked to neurodegenerative diseaseSusceptibilityDemyelinating neurodegenerative diseaseDiseaseDementiaGeneticsNeurologyDiagnosisMechanismsMutationGenome-widePathogenesisParkinsonHumansBrainGeneTherapeuticClinicalVariantResearchIndividualsCognitiveStudyCommonProteinEnvironmentalDetectPotentially
Diseases42
- Controlling for this bias is essential in studies investigating a potential role for oligogenic variation in neurodegenerative diseases. (bmj.com)
- Genetic variation in over 50 genes contributes to the risk of developing neurodegenerative diseases. (bmj.com)
- The EU Joint Programme - Neurodegenerative Disease Research (JPND) is the largest global research initiative aimed at tackling the challenge of neurodegenerative diseases, in particular, Alzheimer's. (neurodegenerationresearch.eu)
- This new epilepsy pathway was previously shown to be involved in neurodegenerative diseases, including Alzheimer's and Parkinson's. (uiowa.edu)
- Success has been particularly limited in adult-onset neurodegenerative diseases, for which no disease-modifying drug yet exists. (nature.com)
- In this study, we sought to understand the disease stages and therapeutic hypotheses studied in clinical trials conducted in neurodegenerative diseases to date. (nature.com)
- Drosophila melanogaster is a genetic model organism that has contributed to the discovery of numerous genes whose human homologues are associated with diseases. (nih.gov)
- The development of sophisticated genetic tools to manipulate its genome accelerates the discovery of the genetic basis of undiagnosed human diseases and the elucidation of molecular pathogenic events of known and novel diseases. (nih.gov)
- In addition, an ever-increasing number of distinct mutations in the POLR3A, POLR3B, POLR1C and POLR3K subunits cause a spectrum of neurodegenerative diseases, which includes most notably hypomyelinating leukodystrophy. (nih.gov)
- Expected public health impact: The ultimate aim of this 24 months UKBIOBANK will be to develop immunosuppressive therapies for individuals with high-risk to develop a neurodegenerative disorder in the next decade and to decrease the devastating impact of these diseases on the patient and their family. (ukbiobank.ac.uk)
- Less commonly, genetic neurodegenerative diseases (e.g. (medscape.com)
- Sarah J. Tabrizi, MD, PhD, co-founder and director of the University College London Huntington's Disease Center, will offer an overview of the challenges, opportunities, and critical lessons learned from the pursuit of genetic therapies for neurodegenerative diseases. (eurekalert.org)
- Greatly concerned, participants noted the increasing prevalence of chronic multisystem illnesses such as multiple chemical sensitivity (MCS), chronic fatigue syndrome (CSF), fibromyalgia (FMS) as well as cardiovascular diseases, metabolic syndrome, neurodegenerative diseases, auto immune diseases, and cancer. (csn-deutschland.de)
- Neurodegenerative diseases cause your brain and nerves to deteriorate over time. (healthline.com)
- Other diseases, such as Tay-Sachs disease , are genetic and begin at an early age. (healthline.com)
- Neurodegenerative diseases cause permanent damage, so symptoms tend to get worse as the disease progresses. (healthline.com)
- There's no cure for neurodegenerative diseases, but treatment can help. (healthline.com)
- Among the adverse health effects related to aging, neurodegenerative diseases hold a key role. (aiche.org)
- Human biomonitoring samples have been analysed for identifying metabolomics and transcriptomics fingerprints, while they have also been mapped jointly into metabolic pathways, for identifying the perturbated pathways that are mostly associated with neurodegenerative diseases. (aiche.org)
- Alzheimer's disease (AD) and Parkinson's disease are the most common neurodegenerative diseases in the world. (karger.com)
- Although there has been much success in identifying genetic variants associated with common diseases using genome-wide association studies (GWAS), it has been difficult to demonstrate which variants are causal and what role they have in disease. (researchgate.net)
- Hence, our study demonstrates that clinical practice can be informed by comparing GWAS across common autoimmune diseases and by investigating the functional consequences of the disease-associated genetic variation. (researchgate.net)
- Many of these diseases are genetic. (utmbhealth.com)
- Research conducted at the Mitchell Center for Neurodegenerative Diseases , which functions as a Center within the Department of Neurology, is continually exploring new and promising approaches for symptom management. (utmbhealth.com)
- Medical professionals classify both conditions as neurodegenerative diseases - conditions in which a person's brain or nerve cells gradually degrade. (medicalnewstoday.com)
- Bonini, Auluck and colleagues showed last year that molecular chaperones can block the progression of neurodegenerative disease in Drosophila, suggesting that diseases like Parkinson's and Alzheimer's may result from reduced chaperone levels and might be averted by pharmacologically boosting chaperone activity. (scienceblog.com)
- Geldanamycin and its derivatives warrant further exploration as cytoprotective agents for the treatment of neurodegenerative diseases involving a-synuclein toxicity, including Parkinson's disease. (scienceblog.com)
- Recent clinical research has demonstrated that berry fruits can prevent age-related neurodegenerative diseases and improve motor and cognitive functions. (lww.com)
- The neuroprotective effects of berry fruits on neurodegenerative diseases are related to phytochemicals such as anthocyanin, caffeic acid, catechin, quercetin, kaempferol and tannin. (lww.com)
- 2001). Since oxidative stress and inflammation appear to be involved in brain aging and in neurodegenerative diseases (Casadesus et al. (lww.com)
- 2012). Neuroinflammatory processes in the brain are believed to play a crucial role in the development of neurodegenerative diseases, especially due to increased production of reactive oxygen species (ROS) (Zheng et al. (lww.com)
- 2003). In agreement with these observations, there is evidence that increased oxidative stress plays an important role in the pathogenesis of neurodegenerative diseases such as AD, PD, ischemic diseases and aging (Esposito et al. (lww.com)
- Prosopagnosia can be caused by stroke, injury to the brain, or some neurodegenerative diseases. (healthline.com)
- The detrimental consequences of OPs on neurodevelopment can lead to future generations with permanent cognitive problems and susceptibility to develop neurodegenerative diseases. (cdc.gov)
- Elderly patients with AD and PD have poor oral health, as well as those without neurodegenerative diseases. (bvsalud.org)
- Many potential immune therapeutic targets are similarly affected in adult-onset neurodegenerative diseases, such as Alzheimer's (AD) disease, Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS), and frontotemporal dementia (FTD), as well as in a seemingly distinct Niemann-Pick type C disease with primarily juvenile onset. (bvsalud.org)
- In this review, we compare these neurodegenerative diseases from a clinical point of view and highlight common pathways and mechanisms of protein aggregation, neurodegeneration, and/or neuroinflammation that could potentially lead to shared treatment strategies for overlapping immune dysfunctions in these diseases. (bvsalud.org)
- Assessing causal relationship between circulating cytokines and age-related neurodegenerative diseases: a bidirectional two-sample Mendelian randomization analysis. (cdc.gov)
- Dr Ritz is a research expert on the health effects of occupational and environmental toxins such as pesticides, ionizing radiation, and air pollution on chronic diseases including neurodegenerative disorders (Parkinson's disease), cancers, and adverse birth outcomes and asthma. (cdc.gov)
- This trial builds on concepts from trials for a number of other neurodegenerative diseases to directly target the known 'bad player' proteins in those diseases," he told Medscape Medical News . (medscape.com)
- HD is a terrible disease, but genetic tools such as this are powerful weapons against genetic diseases, so I am very hopeful that meaningful therapy against HD is on the near horizon. (medscape.com)
- Aging is the single most important risk factor in the development of many diseases including chronic neurodegenerative disorders of the central nervous system. (lu.se)
Disorders36
- Background Several studies suggest that multiple rare genetic variants in genes causing monogenic forms of neurodegenerative disorders interact synergistically to increase disease risk or reduce the age of onset, but these studies have not been validated in large sporadic case series. (bmj.com)
- We are particularly excited because we may have stumbled upon one of the key genetic links between epilepsy and Alzheimer's, since both disorders are converging on the same pathway," Manak says. (uiowa.edu)
- Manak adds, "If this connection is real, then drugs that have been developed to treat neurodegenerative disorders could potentially be screened for anti-seizure properties, and vice versa. (uiowa.edu)
- Neurodegenerative disorders such as Parkinson's disease (PD) and Alzheimer's disease (AD) suffer from the lack of risk-predictive circulating biomarkers, and clinical diagnosis occurs only when symptoms are evident. (lum.it)
- Multiple epidemiological studies suggest an association between POAG and major neurodegenerative disorders (Alzheimer's disease, amyotrophic lateral sclerosis, frontotemporal dementia, and Parkinson's disease). (ox.ac.uk)
- However, the nature of the overlap between neurodegenerative disorders, brain morphology and glaucoma remains inconclusive. (ox.ac.uk)
- Method: In this study, we performed a comprehensive assessment of the genetic and causal relationship between POAG and neurodegenerative disorders, leveraging genome-wide association data from studies of magnetic resonance imaging of the brain, POAG, and four major neurodegenerative disorders. (ox.ac.uk)
- We also identified 11 loci with a significant local genetic correlation and a high probability of sharing the same causal variant between neurodegenerative disorders and POAG or its related phenotypes. (ox.ac.uk)
- Despite these local genetic overlaps, we did not identify strong evidence of a causal association between these neurodegenerative disorders and glaucoma. (ox.ac.uk)
- Interpretation: Our findings indicate a distinctive and likely independent neurodegenerative process for POAG involving several brain regions although several POAG or optic nerve degeneration risk loci are shared with neurodegenerative disorders, consistent with a pleiotropic effect rather than a causal relationship between these traits. (ox.ac.uk)
- We combine the largest human GWAS of brain structure with the largest mammalian model system, the BXD recombinant inbred mouse population, to identify novel genetic targets influencing brain structure variation that are linked to increased risk for neurological disorders. (biomedcentral.com)
- We find that MGST3 is associated with hippocampus size and is linked to a group of neurodegenerative disorders, such as Alzheimer's. (biomedcentral.com)
- This wide range of natural variation raises the possibility that susceptibility to a subset of neurodegenerative and psychiatric disorders linked to defects in the hippocampus may depend, in part, on its initial healthy volume. (biomedcentral.com)
- Sleep Disorders: Warning Sign For Neurodegenerative Disease? (sciencedaily.com)
- These results establish a clear link and indicate that these sleep disorders could be a predictor of neurodegenerative disease," explained Dr. Postuma. (sciencedaily.com)
- We highlight how systematic and combinatorial approaches based on recently established methods provide us with integrated tool sets that can be applied to the study of neurodevelopmental and neurodegenerative disorders. (nih.gov)
- Our results provide new insight into the genetic architecture of the brain with relevance to complex neurological and psychiatric disorders, as well as brain development and aging. (biorxiv.org)
- MRI can provide intermediate or endo-phenotypes that can be used to assess the genetic architecture of such disorders. (biorxiv.org)
- We intend to study the relationship between the use of immunosuppressive drugs and the occurrence of brain disorders and understand whether the genetic cause of the disease, which necessitated the prescription of these drugs in the first place, are contributing to a reduced risk of developing brain disorders (Aim 2). (ukbiobank.ac.uk)
- Neurodegenerative disorders of childhood. (medlineplus.gov)
- What is particularly noteworthy is its importance in the treatment of neurodegenerative disorders such as Alzheimer's disease (AD) and Parkinson's disease (PD) [1-3]. (karger.com)
- Finding small molecules and natural products to target major neurodegenerative disorders. (nccu.edu)
- Here, we review the current knowledge and pathophysiological functions of the HtrA2 protein in neurodegenerative disorders such as Parkinson's and Alzheimer's disease. (benthamscience.com)
- Our studies suggest that a new class of drugs might prevent neurodegenerative disorders by fortifying these neurons even before the onset of disease. (scienceblog.com)
- Data from in vitro and animal studies suggest that among the sources of antioxidants, phytochemicals in berry fruits ( e.g. , anthocyanin and caffeic acid) have a beneficial role in brain aging and neurodegenerative disorders because of their anti-oxidative, anti-inflammatory, anti-viral and anti-proliferative properties (Youdim et al. (lww.com)
- Huntington disease (HD) is a genetic, autosomal dominant, neurodegenerative disorder characterized clinically by disorders of movement, progressive dementia, and psychiatric and/or behavioral disturbance. (medscape.com)
- The increased cases of neurodevelopmental disorders in children, together with their increased susceptibility to OP neurotoxicity cannot be explained by genetic factors alone but could be related to gene-environment interactions. (cdc.gov)
- While NFL players on average live longer than the average American male, the new research found that the overall risk of death associated with neurodegenerative disorders was three times higher among the study group than the general U.S. population. (cdc.gov)
- In addition to the overall comparison with the general population, the study also compared the deaths of players associated with neurodegenerative disorders based on playing positions. (cdc.gov)
- It is not possible to determine from our study the cause of the increased risk of death from neurodegenerative disorders. (cdc.gov)
- Research suggests that football players who have experienced one or more concussive blows to the head are at increased risk of neurologic disorders but our study does not establish a cause-effect relationship between football-related concussions and death from neurodegenerative disorders. (cdc.gov)
- We did not have information on environmental, genetic or other risk factors for neurologic disorders. (cdc.gov)
- The underlying cause for most neurodegenerative disorders is poorly understood and current treatments are largely ineffective. (lu.se)
- In this project we investigate the idea that dysregulation of transposable elements contributes to the onset and pathology of neurodegenerative disorders. (lu.se)
- We also use human induced pluripotent stem cells to investigate how polymorphic transposable elements contribute a genetic component to these disorders, using X-linked dystonia Parkinsonism as our current focus. (lu.se)
- An increased understanding of the relationship between transposons and pathological processes in the brain will result in novel diagnostic tools and therapeutic approaches for neurodegenerative disorders. (lu.se)
Disorder14
- REM sleep behavior disorder appears to be a predictor of neurodegenerative disease in more than 50 percent of cases. (sciencedaily.com)
- According to the latest study by Dr. Ronald Postuma from the Research Institute of the MUHC and Dr. Jacques Montplaisir from the Université de Montréal and the Hôpital du Sacré-Cœur de Montréal, 52.4 per cent of patients with REM sleep behaviour disorder develop a neurodegenerative disease within 12 years following their initial diagnosis. (sciencedaily.com)
- The study showed that the chance a patient suffering from an REM sleep behaviour disorder will develop a neurodegenerative disease is 17.7 per cent within five years of diagnosis, 40.6 per cent within 10 years, and 52.4 per cent within 12 years. (sciencedaily.com)
- Although effective treatments against REM sleep behaviour disorder do exist, these medications do not postpone the onset of neurodegenerative disease. (sciencedaily.com)
- Patients can now digitally consent to be included in The Neuro's Open Biobank (Clinical Biospecimen Imaging and Genetic Repository) and patient registry, providing a more efficient and easier way to help patients accelerate neurological disorder research and participate in clinical trials. (mcgill.ca)
- Using GWAS data, this study aimed to improve our understanding of the genetic relationship between common epilepsies and major psychiatric disorder. (medscape.com)
- In follow-up analyses, rs17076061 was not robustly associated with psychiatric disease, and no overlap was found between the broader genetic architecture of the common substrate and genetic risk for major depressive disorder, bipolar disorder, or schizophrenia. (nature.com)
- Carrier screening is a term used to describe genetic testing that is performed on an individual who does not have any overt phenotype for a genetic disorder but may have one variant allele within a gene(s) associated with a diagnosis. (acog.org)
- Genetic testing can detect if you are a carrier of the gene for this disorder. (medlineplus.gov)
- Scientists have averted the onset of neurodegenerative disease in fruit flies by administering medication to flies genetically predisposed to a disorder akin to Parkinson's disease. (scienceblog.com)
- Parkinson's disease is the second most common human neurodegenerative disorder, characterized by tremors, postural rigidity and progressive deterioration of dopaminergic neurons in specific areas of the brain. (scienceblog.com)
- Parkinson's disease (PD) is a progressive neurodegenerative disorder that leads to numerous impairments in motor function that compromise the ability to perform activities of daily living. (researchgate.net)
- In the following 128 years, HD has inspired thousands of research papers in which elucidation of this unrelenting neurodegenerative disorder has been attempted. (medscape.com)
- Huntington's disease (HD) is a fatal genetic neurodegenerative disorder. (lu.se)
Amyotrophic lateral s7
- Distinct neuroinflammatory signatures exist across genetic and sporadic amyotrophic lateral sclerosis cohorts. (medscape.com)
- Hexanucleotide expansion intronic to chromosome 9 open reading frame 72 ( C9ORF72 ) has recently been identified as the most common genetic cause of both familial and sporadic amyotrophic lateral sclerosis and of f. (biomedcentral.com)
- Mutation in chromosome 9 open reading frame 72 ( C9orf72 ) is a major genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), referred to as C9FTD/ALS. (biomedcentral.com)
- Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized clinically by rapidly progressive paralysis leading ultimately to death from respiratory failure. (biomedcentral.com)
- Genetic variation in targets of lipid-lowering drugs and amyotrophic lateral sclerosis risk: a Mendelian randomization study. (cdc.gov)
- TBK1 variants in Chinese patients with amyotrophic lateral sclerosis: genetic analysis and clinical features. (cdc.gov)
- Spatial clustering of amyotrophic lateral sclerosis in Sardinia, Italy: The contribution of age, sex, and genetic factors. (cdc.gov)
Linked to neurodegenerative disease1
- This landmark discovery found a correlation between the clumping of RNA-binding proteins long linked to neurodegenerative disease and the aggregates of protein found in the heart tissue of patients with RBM20 dilated cardiomyopathy. (devdiscourse.com)
Susceptibility3
- This paper provides a brief presentation on the genetics of multiple sclerosis susceptibility and on current work that uncovers the cellular effects, immunological and non-immunological, associated with genetic risk variants. (researchgate.net)
- Genetic association studies aimed at defining susceptibility to POAG may provide important insights into the pathogenesis of POAG. (molvis.org)
- Dr. Ritz is an expert in the use of geographic information system (GIS) modeling of environmental exposures including pesticide use and traffic related air pollution, and in investigating the links between genetic susceptibility factors and environmental exposures in populations. (cdc.gov)
Demyelinating neurodegenerative disease1
- Multiple sclerosis is a demyelinating neurodegenerative disease with a strong genetic component. (researchgate.net)
Disease35
- 1-5 Some of the known risk alleles are common in the general population, raising the possibility that multiple interacting genetic variants might enhance the risk of developing disease or modify the disease phenotype. (bmj.com)
- A recent research on a genetic heart disease has uncovered a new and unexpected mechanism for heart failure. (devdiscourse.com)
- A decade ago, Timothy Olson, M.D., a pediatric cardiologist at Mayo Clinic, traced the disease to a genetic mutation in a gene called RBM20. (devdiscourse.com)
- A research team has developed a novel measure of disease progression for Huntington's disease (HD), enabling them to identify a genetic modifier associated with how rapidly the disease progresses. (neurodegenerationresearch.eu)
- HD is a fatal neurological disease caused by a genetic mutation. (neurodegenerationresearch.eu)
- They established that different symptoms of disease progress in parallel, so they were able to combine the data from 24 cognitive, motor and MRI brain imaging variables to generate their progression score for genetic analysis. (neurodegenerationresearch.eu)
- Neurodegenerative disease is increasingly prevalent and remains without disease-modifying therapies. (nature.com)
- We annotated targets and eligibility criteria for 3238 neurodegenerative disease trials registered at ClinicalTrials.gov from 2000 to 2020. (nature.com)
- Neurodegenerative disease is on the rise globally due to aging populations 1 , highlighting a need for effective therapeutic interventions. (nature.com)
- Our goals were to characterize clinical trials across major neurodegenerative disease indications, identifying correlations and temporal trends, particularly with regards to disease stages and molecular targets of drugs. (nature.com)
- To identify genetic variants underlying such differences and associated disease phenotypes, multinational consortia such as ENIGMA have used large magnetic resonance imaging (MRI) data sets in human GWAS studies. (biomedcentral.com)
- Understanding the genetic factors that contribute to individual differences in hippocampal volume is thus crucial in providing insight into vulnerability and severity of disease. (biomedcentral.com)
- Huntington's disease (HD), also known as Huntington's chorea, is an incurable neurodegenerative disease that is mostly inherited. (wikipedia.org)
- The genetic basis was discovered in 1993 by an international collaborative effort led by the Hereditary Disease Foundation. (wikipedia.org)
- A study of more than 22,000 people with multiple sclerosis has discovered the first genetic variant associated with faster disease progression, which can rob patients of their mobility and independence over time. (mcgill.ca)
- neurodegenerative disease. (nih.gov)
- Genetic topography and cortical cell loss in Huntington's disease link development and neurodegeneration. (medscape.com)
- Here, we investigated the hypothesis that the common substrate serves as an intermediate phenotype to detect genetic risk variants relevant for psychiatric disease. (nature.com)
- In conclusion, our study identified that common genetic variation indeed influences the common substrate, but that these variants do not directly translate to increased disease risk. (nature.com)
- In a population of animals or plants, genetic diversity can decline much more quickly than species diversity in response to various stress factors: disease, changes to habitat or climate, and so on. (phys.org)
- Alzheimer's disease is the sixth leading cause of death among U.S. adults, yet the chronic neurodegenerative disease has no cure or effective treatment. (scienceblog.com)
- The molecular, biochemical, and cellular basis of genetic disease. (medlineplus.gov)
- BRITE's major research areas are drug discovery, cardiometabolic disease, central nervous system, plant genetic engineering, cancer and Drosophila genetics. (nccu.edu)
- Parkinson's disease and Huntington's disease both involve the central nervous system and are neurodegenerative, which means they cause the gradual death of nerve cells. (medicalnewstoday.com)
- Experts think that a combination of genetic and environmental factors causes Parkinson's disease. (medicalnewstoday.com)
- Huntington's disease is genetic , involving the Huntingtin (HTT) gene. (medicalnewstoday.com)
- Individuals with a neurodegenerative disease called spinocerebellar ataxia 11 (SCA11) have mutations in a gene called TTBK2. (hum-molgen.org)
- Primary open angle glaucoma (POAG) is a multifactorial neurodegenerative disease. (molvis.org)
- Both genetic and environmental factors are thought to contribute to the pathophysiology of the disease. (molvis.org)
- They reviewed clinical and genetic features in 34 cases of late-onset Huntington disease. (medscape.com)
- AD is a severe progressive neurodegenerative disease, which induces decreasing memory capacity and cognition. (bvsalud.org)
- These results are consistent with recent studies by other research institutions that suggest an increased risk of neurodegenerative disease among professional football players. (cdc.gov)
- A number of studies using neuroimaging, postmortem human tissue and genetic manipulation in animal models of the disease has collectively shown that the hypothalamus and the limbic system are affected in HD. (lu.se)
- Ionis' announcement of the completion of the Phase 1/2a study of IONIS-HTTRx is a historic moment in the fight against HD as it represents the successful completion of the first trial to treat the underlying cause of Huntington's disease, the genetic mutation itself," said Vetter. (medscape.com)
- This is a direct and intuitive approach to a genetic disease that is all the more exciting in light of the long string of failed trials based on less direct hypotheses of mHTT toxicity mechanisms," said Dr Russell. (medscape.com)
Dementia1
- Frontotemporal dementia (FTD) is a common cause of early-onset dementia with a significant genetic component, as underlined by the recent identification of repeat expansions in the gene C9ORF72 as a major cause o. (biomedcentral.com)
Genetics1
- Genetic variants were assessed using the American College of Medical Genetics criteria for pathogenicity. (bmj.com)
Neurology1
- The paper, " Neurodegenerative causes of death among retired National Football League players ," published in the journal Neurology looked at a cohort of 3,439 NFL players with at least five playing seasons between 1959-1988. (cdc.gov)
Diagnosis3
- Diagnosis is by genetic testing, which can be carried out at any time, regardless of whether or not symptoms are present. (wikipedia.org)
- A new study published on Dec. 14, 2022 in the New England Journal of Medicine reports the identification of a previously unknown genetic cause of a late-onset cerebellar ataxia, a discovery that will improve diagnosis and open new treatment avenues for this progressive condition. (mcgill.ca)
- Genetic testing can confirm the diagnosis. (msdmanuals.com)
Mechanisms2
- Thus, understanding the interplay among environmental and genetic factors, in relation to the respective involved mechanisms, is the cornerstone of targeted interventions, both at individual and community level. (aiche.org)
- RP is at present untreatable and the underlying neurodegenerative mechanisms are unknown, even though the genetic causes are often established. (lu.se)
Mutation4
- The genetic signal is likely to be driven by the gene MSH3, a DNA repair gene which has been linked to changes in size of the HD mutation. (neurodegenerationresearch.eu)
- When an individual is found to be a carrier for a genetic condition, his or her relatives are at risk of carrying the same mutation. (acog.org)
- Genetic mutation on short arm of chromosome 4, which causes HD, was discovered in 1983 [ 4 ]. (hindawi.com)
- The genetic mutation is theorized to cause an imbalance between free radical production and removal, resulting in the subsequent neuronal degeneration and neurotransmitter decline. (medscape.com)
Genome-wide2
- Here, we tested genome-wide coheritability based on common genetic variants between platelet parameters and PD/AD risk, through Linkage Disequilibrium Score Regression. (lum.it)
- Prior efforts to identify genetic variants underlying differences in brain structure have used large data sets in human genome-wide association studies (GWAS) or extensive mapping populations in mouse model systems. (biomedcentral.com)
Pathogenesis1
- This review focuses on the current knowledge of the pathogenesis of the inflammatory and neurodegenerative elements of the multiple sclerosis plaque. (researchgate.net)
Parkinson1
- Modern immunocytochemical techniques and genetic findings suggest that Parkinson-plus syndromes can be broadly grouped into 2 types: synucleinopathies and tauopathies. (medscape.com)
Humans2
Brain4
- Findings: This study found a genetic overlap and causal relationship between POAG and its related phenotypes (i.e., intraocular pressure and optic nerve morphology traits) and brain morphology in 19 regions. (ox.ac.uk)
- In addition, mapping studies in mouse model systems have identified genetic variants for brain structure variation with great power. (biomedcentral.com)
- The genetic basis of brain structure and function is largely unknown. (biorxiv.org)
- More commonly, prenatal or perinatal insults to the brain or genetic/metabolic conditions cause poor brain growth. (medscape.com)
Gene6
- This is to our knowledge the first direct genetic evidence demonstrating that mutations in the fly version of a known human epilepsy gene produce seizures through altered vesicle transport," says John Manak, senior author and associate professor of biology in the College of Liberal Arts and Sciences and pediatrics in the Carver College of Medicine . (uiowa.edu)
- We first use a novel cross-species, comparative analysis using mouse and human genetic data to identify a candidate gene, MGST3, associated with adult hippocampus size in both systems. (biomedcentral.com)
- The huntingtin gene provides the genetic information for huntingtin protein (Htt). (wikipedia.org)
- Genetic testing revealed 43 CAG repeats in the HD gene. (medscape.com)
- 2. Nuclear transfer is a technique used to duplicate genetic material by creating an embryo through the transfer and fusion of a diploid cell in an enucleated female oocyte.2 Cloning has a broader meaning than nuclear transfer as it also involves gene replication and natural or induced embryo splitting (see Annex 1). (who.int)
- The project utilizes CRISPR-based gene editing which allows us to move genetic elements from one species to another. (lu.se)
Therapeutic1
- Sixteen novel, genetically supported therapeutic hypotheses tested in drug trials represent a small, non-increasing fraction of trials, and the mean lag from genetic association to first trial was 13 years. (nature.com)
Clinical1
- Neurologic complications in herpes simplex encephalitis: clinical, immunological and genetic studies. (medscape.com)
Variant1
- By analysing MS GWAS data in conjunction with the 1000 Genomes Project data we provide genetic evidence that strongly implicates this SNP, rs1800693, as the causal variant in the TNFRSF1A region. (researchgate.net)
Research5
- This study was funded by the Canadian Institutes of Health Research (CIHR) and the Fonds de la recherche en santé du Québec (FRSQ). (sciencedaily.com)
- An international research team from ETH Zurich and French universities has studied genetic diversity among fish around the world for the first time. (phys.org)
- Their research produced a map that will serve as a tool in improving the protection of species and genetic diversity in the future. (phys.org)
- New research published helps to fill in the genetic pieces of the jig-saw puzzle associated with the development of the aorta. (hum-molgen.org)
- 5. Most countries in the African Region have no specific regulations and policies governing genetic manipulations for assisted conception, treatment and research. (who.int)
Individuals2
- Conclusions A priori, individuals with AD, PD-DLB and FTD-ALS are more likely to harbour a known genetic risk factor, and it is the burden of these variants in combination with rare benign alleles that is likely to be responsible for some oligogenic associations. (bmj.com)
- Individuals with a positive family history of a genetic condition should be offered carrier screening for the specific condition and may benefit from genetic counseling. (acog.org)
Cognitive1
- She and her teammates crafted a machine-learning algorithm using patients' genetic data, demographic information, and cognitive test results. (scienceblog.com)
Study1
- The researchers see their study as a tool in efforts to improve conservation of genetic diversity and in turn biodiversity. (phys.org)
Common1
- What follows is a detailed discussion of some of the more common genetic conditions for which carrier screening is recommended in at least some segments of the population. (acog.org)
Protein1
- The genetic data focused on a specific protein biomarker that is linked to Alzheimer's development. (scienceblog.com)
Environmental3
- Furthermore, they identified the environmental factors that are instrumental in determining the distribution of genetic diversity. (phys.org)
- This is the only way to ensure that the pool of varied genetic material is large enough to enable the survival of species under changing environmental conditions," he explains. (phys.org)
- The overall methodology is being verified in a series of population studies across Europe, tackling various levels of environmental exposure, age windows and gender differentiation of exposure, and socio-economic and genetic variability. (aiche.org)
Detect1
- Their map makes it easier to detect hotspots of species and genetic diversity and to plan appropriate protective action. (phys.org)
Potentially1
- We were not able to identify potentially important differences in neurodegenerative mortality risk across the various positions included within the speed position group. (cdc.gov)