Browse study websites

Discover. Prevent. Cure.

Menu Fundraise Donate

    Recommended pages

      Do you mean

        21-30 of 96 results

        Refine search

        Research

        Immune checkpoint therapy responders display early clonal expansion of tumor infiltrating lymphocytes

        Immune checkpoint therapy (ICT) causes durable tumour responses in a subgroup of patients, but it is not well known how T cell receptor beta (TCRβ) repertoire dynamics contribute to the therapeutic response.  ...

        Research

        Indigenous Australian genomes show deep structure and rich novel variation

        The Indigenous peoples of Australia have a rich linguistic and cultural history. How this relates to genetic diversity remains largely unknown because of their limited engagement with genomic studies. Here we analyse the genomes of 159 individuals from four remote Indigenous communities, including people who speak a language (Tiwi) not from the most widespread family (Pama-Nyungan). This large collection of Indigenous Australian genomes was made possible by careful community engagement and consultation. ...

        Research

        Hospitalizations from Birth to 28 Years in a Population Cohort of Individuals Born with Five Rare Craniofacial Anomalies in Western Australia

        To describe trends, age-specific patterns, and factors influencing hospitalizations for 5 rare craniofacial anomalies. ...

        Research

        Innovation in Informatics to Improve Clinical Care and Drug Accessibility for Rare Diseases in China

        In China, there are severe unmet medical needs of people living with rare diseases. Relatedly, there is a dearth of data to inform rare diseases policy. This is historically partially due to the lack of informatics infrastructure, including standards and terminology, data sharing mechanisms and network; and concerns over patient privacy protection. ...

        Research

        Reference exome data for Australian Aboriginal populations to support health-based research

        Our data set provides a useful reference point for genomic studies on Aboriginal Australians ...

        Research

        Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians

        Traits associated with CVD, CRD and T2D in Aboriginal Australians provide novel insight into function of Arylsulphatase A Pseudodeficiency variants ...

        Research

        C1 CAGE detects transcription start sites and enhancer activity at single-cell resolution.

        We introduce C1 CAGE, a method for the detection of transcript 5'-ends with an original sample multiplexing strategy in the C1TM microfluidic system ...

        Research

        A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

        There is a critical need for the field to develop and implement strategies to understand the mechanisms underlying all rare diseases and translate these to clinical care ...

        Research

        Antisense Transcription in Loci Associated to Hereditary Neurodegenerative Diseases

        Evidence for the existence of additional regulatory mechanisms of the expression of neurodegenerative disease-causing genes by antisense long noncoding RNAs ...

        Research

        Transcriptional landscape of Mycobacterium tuberculosis infection in macrophages

        A comprehensive in depth gene expression/regulation profile in Mycobacterium tuberculosis-infected macrophages ...

        Page 3 of 10