AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesDisciplines and OccupationsAnthropology, Education, Sociology and Social PhenomenaInformation ScienceNamed GroupsHealth CareGeographicals
Neurodegenerative DiseasesCardiovascular DiseasesDisease SusceptibilityGenetic Predisposition to DiseaseGenetic LinkageChromosome MappingGenetic LociPolymorphism, Single NucleotideGenotypeGenetic MarkersHaplotypesPedigreeAllelesLod ScoreLinkage DisequilibriumPolymorphism, GeneticGenome-Wide Association StudyNerve DegenerationAlzheimer DiseaseMutationRisk FactorsGene FrequencyPhenotypeHuntington DiseaseDisease Models, AnimalBrainCase-Control StudiesQuantitative Trait LociGenetic Diseases, InbornNeuronsAmyotrophic Lateral SclerosisModels, GeneticGenetic Variationtau ProteinsMolecular Sequence DataParkinson Diseasealpha-SynucleinMicrosatellite RepeatsGenetic HeterogeneityNerve Tissue ProteinsGenome, HumanMice, TransgenicPrionsMice, Inbred C57BLNeuroprotective AgentsTauopathiesPrion DiseasesOxidative StressGenes, DominantBase SequenceChromosomes, Human, Pair 6Inclusion BodiesAgingDiseaseCohort StudiesHeredodegenerative Disorders, Nervous SystemFriedreich AtaxiaTrinucleotide Repeat ExpansionGenetic Association StudiesProteostasis DeficienciesBiological MarkersConsanguinityAmino Acid SequenceCells, CulturedMicrogliaHomozygoteMicrobial Sensitivity TestsGene Expression RegulationNuclear FamilyHeterozygotePhysical Chromosome MappingChromosomes, Human, Pair 2Signal TransductionPolymerase Chain ReactionAge of OnsetCell DeathSynucleinsGenetics, PopulationGenetic TestingAmyloid beta-PeptidesPenetranceInflammationAsian Continental Ancestry GroupSpinocerebellar AtaxiasGenes, RecessiveTime FactorsCrohn DiseaseSequence Analysis, DNAFrontotemporal Lobar DegenerationModels, BiologicalEuropean Continental Ancestry GroupMultifactorial InheritanceMitochondriaMice, KnockoutImmunity, InnateSpinocerebellar DegenerationsDiabetes Mellitus, Type 1HLA-DQ AntigensDNA Mutational AnalysisCrosses, Genetic
GenesPathogenesisParkinson'sGeneAdult onsetPrevalentQuantitativeIdentifiesPatientsPathophysiologyDisorderType 2 diabetAllelesMutationsAlzheimer's DiseaseInflammatory diseasesChronicFamilialMultiple sclerosisIdentificationIncreasinglyChromosomeAPOEOnsetDecadesBiochemicalDisordersCancer and other humaBroadlyInfectiousAlzheimer DiseasePreventionClinicalDiabetesMeta-analysisMechanismsDegenerationGenomicMarkersTrialsObesityGloballyPathologicTreatmentBreast cancerImplicationsOptic nerveHuman geneticsOccursRisk factorIdentify
Genes14
  • Identifying breast cancer susceptibility genes - a review of the genetic background in familial breast cancer. (cdc.gov)
  • Here, we discuss how such methodology can be useful to translational biomedical research, where scientists traditionally focus on one or a small set of genes, diseases, and drug candidates at any one time. (biomedcentral.com)
  • Y chromosome harbors male‑specific genes, which either solely or in cooperation with their X-counterpart, and independent or in conjunction with sex hormones have a considerable impact on basic physiology and disease mechanisms in most or all tissues development. (biomedcentral.com)
  • Furthermore, loss of Y chromosome and/or aberrant expression of Y chromosome genes cause sex differences in disease mechanisms. (biomedcentral.com)
  • In this review, the involvement of Y chromosome genes in male-specific diseases such as prostate cancer and the cases that are more prevalent in men, such as cardiovascular disease, neurological disease, and cancers, has been highlighted. (biomedcentral.com)
  • An approach for ranking genes implicated in the comorbid condition of the two diseases was proposed. (biomedcentral.com)
  • The approach is based on ten criteria for ranking genes by their importance, including relevance scores of association between disease and genes, standard methods of gene prioritization, as well as original criteria that take into account the characteristics of an associative gene network and the presence of known polymorphisms in the analyzed genes. (biomedcentral.com)
  • According to the proposed approach, the genes OPRM1, CHRNA4 and SNCA had the highest priority in the development of comorbidity of these two diseases. (biomedcentral.com)
  • We examined whether a genetic burden of variants in other lysosomal storage disorder genes is more broadly associated with Parkinson's disease susceptibility. (amsterdamumc.org)
  • The sequence kernel association test was used to interrogate variant burden among 54 lysosomal storage disorder genes, leveraging whole exome sequencing data from 1156 Parkinson's disease cases and 1679 control subjects. (amsterdamumc.org)
  • In secondary analyses designed to highlight the specific genes driving the aggregate signal, we confirmed associations at the GBA and SMPD1 loci and newly implicate CTSD, SLC17A5, and ASAH1 as candidate Parkinson's disease susceptibility genes. (amsterdamumc.org)
  • Many of the Alzheimer's disease (AD) risk genes are specifically expressed in microglia and astrocytes, but how and when the genetic risk localizing to these cell types contributes to AD pathophysiology remains unclear. (massgeneral.org)
  • Here we mapped expression quantitative trait loci (eQTLs) for classical HLA genes across 1,073 individuals and 1,131,414 single cells from three tissues. (massgeneral.org)
  • Genome-wide association analyses on large patient cohorts are generating large sets of candidate disease genes. (biomedcentral.com)
Pathogenesis3
Parkinson's9
Gene8
  • A large antisense non-coding RNA gene (ANRIL) collocates with the high-risk haplotype, is expressed in tissues and cell types that are affected by atherosclerosis and is a prime candidate gene for the chromosome 9p CAD locus. (ox.ac.uk)
  • Genetically, HSPs are classified by the mode of inheritance (autosomal dominant, autosomal recessive, and X-linked) and are subdivided by chromosomal locus or causative gene. (medscape.com)
  • Cancer susceptibility gene mutations in type I and II endometrial cancer. (cdc.gov)
  • We have ongoing interests in the systems level analysis and reconstruction of regulatory networks, inference of enhancer-promoter contacts, predictive models of gene expression and integration of three-dimensional chromatin structure with one-dimensional epigenetic measurements in the context of cancer, malaria, asthma and several autoimmune diseases. (ucsd.edu)
  • Thirteen gene-gene interactions between the loci of LHB , LHCGR , and APOE were associated with AD. (biomedcentral.com)
  • The reversal of risk embodied in this interaction powerfully supports the importance of considering the role gene-gene interactions play in the etiology of complex biological diseases and demonstrates the importance of using multiple analytic methods to detect well-supported gene-gene interactions. (biomedcentral.com)
  • To identify susceptibility loci specific to ER-negative disease, we combined in a meta-analysis 3 genome-wide association studies of 4,193 ER-negative breast cancer cases and 35,194 controls with a series of 40 follow-up studies (6,514 cases and 41,455 controls), genotyped using a custom Illumina array, iCOGS, developed by the Collaborative Oncological Gene-environment Study (COGS). (ox.ac.uk)
  • He was a leader of the SNP Consortium, HapMap and 1,000 Genome Projects, and with discovered over 100 gene variants associated with type 2 diabetes and other common diseases. (agbt.org)
Adult onset2
Prevalent2
Quantitative2
  • Second, while reports sometimes categorize trials as preventive versus symptomatic, we wished to examine more quantitative metrics of disease stage or severity. (nature.com)
  • Application of quantitative genetics methodology in fact supports the presence of 4 as yet unidentified AD-associated loci in the human genome, each expected to affect age of onset (AoO) as much or more than APOE [ 6 ]. (biomedcentral.com)
Identifies2
  • Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk. (cdc.gov)
  • Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. (ox.ac.uk)
Patients6
  • Patients affected by the normal-pressure form of glaucoma are more likely to harbor risk alleles for glaucoma-related optic nerve disease. (prolekarniky.cz)
  • Genetic and biochemical studies support the apolipoprotein E ( APOE ) ε4 allele as a major risk factor for late-onset Alzheimer's disease (AD), though ~50% of AD patients do not carry the allele. (biomedcentral.com)
  • Development of a diagnostic framework for vestibular causes of dizziness and unsteadiness in patients with multisensory neurological disease: a Delphi consensus. (ucl.ac.uk)
  • Background: Persons with multiple sclerosis (pwMS) might be particularly well suited to benefit from digital health applications because they are, on average, younger and less severely disabled than patients with many other chronic diseases. (inims.de)
  • Background: While substantial progress has been made in the development of disease-modifying medications for multiple sclerosis (MS), a high percentage of treated patients still show progression and persistent inflammatory activity. (inims.de)
  • Dr. Falk is also PI of an NIH, pharma, and philanthropic funded translational research laboratory group at CHOP that investigates the causes and global metabolic consequences of mitochondrial disease, as well as targeted therapies, in C. elegans , zebrafish, mouse, and human tissue models of genetic-based respiratory chain dysfunction, and directs multiple clinical treatment trials in mitochondrial disease patients. (agbt.org)
Pathophysiology2
  • The proteasome and its subunits are of clinical significance for at least two reasons: (1) a compromised complex assembly or a dysfunctional proteasome can be associated with the underlying pathophysiology of specific diseases, and (2) they can be exploited as drug targets for therapeutic interventions. (wikipedia.org)
  • Structural and molecular imaging has contributed to a better understanding of the pathophysiology of neurodegenerative dementias and is increasingly being adopted into clinical practice for early and accurate diagnosis. (nihr.ac.uk)
Disorder6
  • PLS is a rare, idiopathic neurodegenerative disorder that primarily involves the UMNs, resulting in progressive spinobulbar spasticity. (medscape.com)
  • Alzheimer disease (AD) is a neurodegenerative disorder marked by cognitive and behavioral impairment that significantly interferes with social and occupational functioning. (medscape.com)
  • Alzheimer's disease (AD) is a progressive neurodegenerative disorder characterized by neuronal and synaptic loss, neurofibrillary tangles in neuronal cytoplasm, and deposition of β-amyloid (Aβ) in extracellular, neuritic plaques. (biomedcentral.com)
  • A generalized disorder of nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndrome. (houstonmethodist.org)
  • Alzheimer disease (AD) is an acquired disorder of cognitive and behavioral impairment that markedly interferes with social and occupational functioning. (medscape.com)
  • Trends Genetics , 2014), and investigating human diseases of telomere dysfunction (called telomeropathies) which are an emerging genetic spectrum disorder ( J. Cell Biol , 2014, Nucleic Acids Res , 2007, PNAS , 2007). (utsouthwestern.edu)
Type 2 diabet2
  • Goran MI, Ball GDC, Cruz ML. Obesity and risk of type 2 diabetes and cardiovascular disease in children and adolescents. (medigraphic.com)
  • The region is also associated with type 2 diabetes (T2D), a risk factor for CAD, although different SNPs were reported to be associated to each disease in separate studies. (ox.ac.uk)
Alleles1
  • There was no evidence of additional CAD susceptibility alleles over the major risk haplotype. (ox.ac.uk)
Mutations2
  • Understanding the mutations in APOE, their structural properties, and their isoforms is important to determine its role in various diseases and to advance the development of therapeutic strategies. (dovepress.com)
  • This previously unknown mitochondrial function of HSPB1 is disturbed by CMT disease-causing mutations. (uantwerpen.be)
Alzheimer's Disease4
  • Alzheimer's disease (AD) is a progressive neurodegenerative disease that is the most common cause of dementia in the aging population and is characterized by significant impairment in learning and memory. (biomedcentral.com)
  • A Polygenic Risk Score Derived From Episodic Memory Weighted Genetic Variants Is Associated With Cognitive Decline in Preclinical Alzheimer's Disease. (cdc.gov)
  • It is now acknowledged that Alzheimer's Disease (AD) processes are present decades before the onset of clinical symptoms, but it remains unknown whether lifestyle factors can protect against these early AD processes in mid-life. (medrxiv.org)
  • These findings suggest that modifiable lifestyle activities offset cognitive decrements due to AD risk in mid-life and support the targeting of modifiable lifestyle activities for the prevention of Alzheimer's Disease. (medrxiv.org)
Inflammatory diseases2
  • In this article, the role of Y chromosome in male-specific diseases (male infertility and prostate cancer (PC), and the ones which primarily affect men such as cardiovascular diseases, inflammatory diseases, and various types of cancers has been reviewed (Fig. 2 ). (biomedcentral.com)
  • Mucosal-associated invariant T (MAIT) cells have been implicated in various inflammatory diseases of barrier organs, but so far, their role in kidney disease is unclear. (inims.de)
Chronic2
  • Acute kidney injury (AKI) is a life-threatening disease with high mortality characterized by an abrupt decrease of the kidney glomerular filtration rate, extra-kidney consequences (cardiovascular diseases, lung injury, neurological impairment) and high risk of secondary chronic kidney disease (CKD). (hrb.ie)
  • physical: causing to explant with the download Insecticides, the CHRONIC susceptibility through which supply relates from the brain to the muscle. (augenta.net)
Familial2
  • HSP, also known as familial spastic paraplegias or Strumpell-Lorrain disease, comprises a clinically and genetically heterogeneous group of hereditary disorders characterized by slowly progressive spastic paraparesis. (medscape.com)
  • Genome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining ∼14% of the familial risk of the disease. (ox.ac.uk)
Multiple sclerosis1
  • Background: Many persons with multiple sclerosis (pwMS) desire to learn how health behaviour changes (e.g., dietary adjustments, physical activity, improvements in stress management) might help them manage their disease. (inims.de)
Identification2
  • Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. (ox.ac.uk)
  • Identification of disease risk factors and early markers will increase over time with emerging clinical outcomes 3 . (biorxiv.org)
Increasingly1
  • Although sex hormones play a key role in sex differences in susceptibility, severity, outcomes, and response to therapy of different diseases, sex chromosomes are also increasingly recognized as an important factor. (biomedcentral.com)
Chromosome3
  • Susceptibility to coronary artery disease and diabetes is encoded by distinct, tightly linked SNPs in the ANRIL locus on chromosome 9p. (ox.ac.uk)
  • Genome-wide association studies have identified a region on chromosome 9p that is associated with coronary artery disease (CAD). (ox.ac.uk)
  • Understanding the molecular mechanisms underlying Y chromosome-related diseases can have a significant impact on the prevention, diagnosis, and treatment of diseases. (biomedcentral.com)
APOE2
Onset2
  • Participants were 40-69 years of age at baseline recruitment, a major aim being to acquire as rich data as possible before disease onset. (biorxiv.org)
  • We assessed the impact of lifestyle activities, known risk factors for sporadic late-onset AD (Apolipoprotein E □4 allele status, family history of dementia, and the Cardiovascular Risk Factors Aging and Dementia score), and their interactions on cognition. (medrxiv.org)
Decades1
Biochemical1
  • The various biochemical, physiological, and genomic factors that can influence BBB permeability in ALS and other neurodegenerative diseases are also discussed, in addition to novel therapeutic strategies centred upon the BBB. (hindawi.com)
Disorders3
  • Farnesyltransferase inhibitors (FTIs) have recently been investigated for repositioning toward the treatment of neurodegenerative disorders and block the action of farnesyltransferase (FTase) to catalyze farnesylation, a post-translational modification that regulates proteins involved in lysosome function and microtubule stability. (biomedcentral.com)
  • As many of these neurodegenerative disorders are characterized by the presence of pathologic forms of tau and neurofibrillary tangles, studying the effects of tau pathology on the development of epilepsy might prove rewarding. (uantwerpen.be)
  • His innovative biotechnologies and computational tools to study the sequence and function of genomes are advancing the understanding of the structure, evolution, and function of genomes for medicine - particularly autism spectrum disorders, cancer, and other human diseases - and agriculture. (agbt.org)
Cancer and other huma1
  • Research in G&E labs is broadly focused on the fundamental genetic, epigenetic, and genomic mechanisms that control cell growth and differentiation, and that cause cancer and other human diseases. (uth.edu)
Broadly1
  • First, experimental drugs are often broadly categorized as "disease-modifying" if the hypothesis is one of disease modification, regardless of the quality of that hypothesis. (nature.com)
Infectious4
  • Emerging Infectious Diseases , 29 (11), 2189-2197. (cdc.gov)
  • Emerging Infectious Diseases , 29 (11), 2198-2202. (cdc.gov)
  • The human leukocyte antigen (HLA) locus plays a critical role in complex traits spanning autoimmune and infectious diseases, transplantation and cancer. (massgeneral.org)
  • Malaria tropica is one of the major infectious diseases globally and is caused by the protozoan parasite Plasmodium falciparum . (biomedcentral.com)
Alzheimer Disease3
Prevention2
  • From the clinicians' point of view, it is necessary to bridge the gap between theoretical network biology and practical biomedical research, in order to improve the diagnosis, prevention, and treatment of the world's major diseases. (biomedcentral.com)
  • Centers for Disease Control and Prevention. (cdc.gov)
Clinical3
  • 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)
  • 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)
  • She works to improved clinical care, diagnostic approaches, and genomic resources for mitochondrial disease, including organization of a global Mitochondrial Disease Sequence Data Resource (MSeqDR) consortium. (agbt.org)
Diabetes2
  • The CAD susceptibility conferred by this locus did not differ by sex, age, smoking, obesity, hypertension or diabetes. (ox.ac.uk)
  • A simultaneous test of CAD and diabetes susceptibility with CAD and T2D-associated SNPs indicated that these associations were independent of each other. (ox.ac.uk)
Meta-analysis1
  • To identify new susceptibility loci, we performed a meta-analysis of 11 GWAS, comprising 15,748 breast cancer cases and 18,084 controls together with 46,785 cases and 42,892 controls from 41 studies genotyped on a 211,155-marker custom array (iCOGS). (ox.ac.uk)
Mechanisms1
  • Many aspects regarding the molecular mechanisms of small heat shock proteins, both in health and disease, remain to be unraveled. (uantwerpen.be)
Degeneration1
  • Primary open angle glaucoma (POAG), the most common form of glaucoma in the Western world, is an age-related, complex disease characterized by progressive irreversible degeneration of the optic nerve due to apoptotic retinal ganglion cell death [2] . (prolekarniky.cz)
Genomic1
  • Because both loci influence transforming growth factor beta (TGF-beta) signaling, we performed a genomic pathway analysis that showed an association between the TGF-beta pathway and NPG (permuted p = 0.009). (prolekarniky.cz)
Markers1
  • By convention, clinicians typically focus on specific sets of key genetic markers associated with diseases, to identify the most probable drug targets. (biomedcentral.com)
Trials1
  • We annotated targets and eligibility criteria for 3238 neurodegenerative disease trials registered at ClinicalTrials.gov from 2000 to 2020. (nature.com)
Obesity1
  • Obesity is a risk factor for both susceptibility to infections including postoperative infections and other nosocomial infections and the occurrence of a more severe disease course. (hrb.ie)
Globally2
  • Neurodegenerative disease is on the rise globally due to aging populations 1 , highlighting a need for effective therapeutic interventions. (nature.com)
  • Autoimmune disease affects 10% of adults, most of whom are women, and two of the top five medications with the highest cost globally are used to maintain these recurring conditions in remission. (hrb.ie)
Pathologic1
  • We reported increased seizure susceptibility in young Tau58/4 mice, which are still in an early pathologic stage, but not in old Tau58/4 mice with full-blown tau pathology. (uantwerpen.be)
Treatment5
  • Currently, the only disease-modifying therapy conditionally approved by the FDA is an anti-Aβ antibody that clears aggregated forms of Aβ from the brain [ 5 ], confirming that targeting Aβ in the brain is a promising approach to AD treatment. (biomedcentral.com)
  • The prognosis is poor as no treatment is available for the primary disease. (medscape.com)
  • The development of effective treatment approaches against these diseases is complicated by their comorbidity features. (biomedcentral.com)
  • Dr. Altshuler leads Vertex's research efforts aimed at discovering new medicines for the treatment of CF and other serious diseases, overseeing the company's three research sites in the United States and Europe. (agbt.org)
  • Luke is a community leader who drives our collective mission to urgently bring treatment to children living with rare neurodegenerative diseases. (agbt.org)
Breast cancer1
  • Genome-wide association studies identify four ER negative-specific breast cancer risk loci. (ox.ac.uk)
Implications1
  • A Systematic Review of the Psychological Implications of Genetic Testing: A Comparative Analysis Among Cardiovascular, Neurodegenerative and Cancer Diseases. (cdc.gov)
Optic nerve1
  • however, many individuals have IOP elevation without optic nerve disease [6] , and at least 33% of affected individuals have progressive retinal ganglion cell loss despite IOP measurements in the normal range (less than 22 mmHg), a condition defined as normal-pressure glaucoma (NPG) [7] . (prolekarniky.cz)
Human genetics2
  • As detailed on our website, the G&E Program tackles foundational questions in development and disease that can be grouped into five research areas: epigenetics, developmental genetics, human genetics, cancer genetics, and genome maintenance and repair. (uth.edu)
  • She has authored more than 95 publications in the areas of human genetics and mitochondrial disease. (agbt.org)
Occurs1
Risk factor2
  • Excess sedentary time (ST) is recognized as an important modifiable risk factor for coronary heart disease (CHD). (nihr.ac.uk)
  • Vascular calcification is a hallmark of atherosclerotic disease and serves as a strong predictor and risk factor for cardiovascular events. (massgeneral.org)
Identify1
  • Global analysis may provide better insight into the overall picture of human diseases, as well as identify previously overlooked problems, leading to rapid advances in medicine. (biomedcentral.com)