Browse study websites

Discover. Prevent. Cure.

Menu Fundraise Donate

    Recommended pages

      Do you mean

        73-84 of 786 results for 'genetic'

        Refine research

        Research

        Genetic and functional evidence for a role for SLC11A1 in susceptibility to otitis media in early childhood in a Western Australian population

        Otitis media (OM) is a common disease in early childhood characterised by inflammation of the middle ear. ...

        Research

        First genome-wide association study in an Australian Aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes

        A body mass index (BMI) >22kg/m2 is a risk factor for type 2 diabetes (T2D) in Aboriginal Australians. ...

        Research

        Analysis of the human monocyte-derived macrophage transcriptome and response to lipopolysaccharide provides new insights into genetic aetiology of inflammatory bowel disease.

        We propose that this system provides a model for the differentiation and adaptation of monocytes entering the intestinal lamina propria. ...

        Research

        CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency

        Over 400 million people worldwide are living with a rare disease. Next Generation Sequencing identifies potential disease causative genetic variants. However, many are identified as variants of uncertain significance and require functional laboratory validation to determine pathogenicity, and this creates major diagnostic delays. ...

        Research

        Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort

        This is the first comprehensive study of maturity-onset diabetes of the young variants in an unselected population-based pediatric diabetes cohort ...

        Research

        HLA-DR Class II expression on myeloid and lymphoid cells in relation to HLA-DRB1 as a genetic risk factor for visceral leishmaniasis

        To understand how HLA-DR contributes to disease pathogenesis, we examined expression at the protein level in circulating myeloid and lymphoid cells of VL patients ...

        Research

        Sugar-sweetened beverage intake associations with fasting glucose and insulin concentrations are not modified by selected genetic variants in a ChREBP-FGF21 pathway: a meta-analysis

        We think that variants in genes involved in fructose metabolism and ChREBP-FGF21 pathway interacts with SSB intake to exacerbate associations with SSB intake. ...

        Research

        Temporal changes in BEXSERO® antigen sequence type associated with genetic lineages of Neisseria meningitidis over a 15-year period in Western Australia

        The BEXSERO® vaccine which is used to prevent serogroup B disease is composed of four sub-capsular protein antigens supplemented with an outer membrane vesicle. ...

        Research

        Ethics and equity in rare disease research and healthcare

        Rapid advances in next-generation sequencing technology, particularly whole exome sequencing and whole genome sequencing, have greatly affected our understanding of genetic variation underlying rare genetic diseases. Herein, we describe ethical principles of guiding consent and sharing of genomics research data. We also discuss ethical dilemmas in rare diseases research and patient recruitment policies and address bioethical and societal aspects influencing the ethical framework for genetic testing. ...

        Research

        Host and parasite genomics, an Australasian perspective

        The last decade has seen rapid advances in the genetic technology that is allowing researchers to examine host-pathogen interactions at a whole organism level. ...

        Research

        Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32

        The restricted genetic diversity and homogeneous molecular basis of Mendelian disorders in isolated founder populations have rarely been explored in epilepsy... ...

        Research

        Association of an allele on chromosome 9 and abdominal aortic aneurysm

        Abdominal aortic aneurysm (AAA) has been recognized as a multi-factorial disease with both genetic and environmental risk factors. ...

        Page 7 of 66