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Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations

Advances in omics and specifically genomic technologies are increasingly transforming rare disease diagnosis. However, the benefits of these advances are disproportionately experienced within and between populations, with Indigenous populations frequently experiencing diagnostic and therapeutic inequities. The International Rare Disease Research Consortium (IRDiRC) multi-stakeholder partnership has been advancing toward the vision of all people living with a rare disease receiving an accurate diagnosis, care, and available therapy within 1 year of coming to medical attention. In order to further progress toward this vision, IRDiRC has created a taskforce to explore the access barriers to diagnosis of rare genetic diseases faced by Indigenous peoples, with a view of developing recommendations to overcome them.

Acquired resistance during adoptive cell therapy by transcriptional silencing of immunogenic antigens

These findings suggest that tumor cells employ multiple epigenetic and genetic mechanisms to evade immune control

β-Lactamase Tools for Establishing Cell Internalization and Cytosolic Delivery of Cell Penetrating Peptides

The β-lactamase assays provide compatible tools for functional characterization of CPP activity and the delivery of biological cargos into cells

Autism and psychosis: Clinical implications for depression and suicide

This study examines the association of autism spectrum traits, depressive symptoms and suicidal behaviour in individuals with psychotic experiences

The Ultra-High-Risk for psychosis groups: Evidence to maintain the status quo

Our findings demonstrate that Ultra-High-Risk groups evidence a similar clinical risk profile when we expand this beyond transition to psychosis

Randomized controlled trial of text message reminders for increasing influenza vaccination

We conducted a randomized controlled trial of short message service (SMS) reminders for influenza vaccination.

Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome

The genetic causes of intellectual disability (ID) are heterogeneous and include both chromosomal and monogenic etiologies.

Determining the off-target effects of infant vaccines on respiratory infection outcomes in Western Australian children

Christopher Hannah Lea-Ann Blyth Moore Kirkham MBBS (Hons) DCH FRACP FRCPA PhD OAM BSc (Hons) GradDipClinEpi PhD PhD Centre Head, Wesfarmers Centre

Administration Officer

The Opportunity The Kids Research Institute Australia is looking for an Administration Officer to provide effective and efficient administrative

Research Assistant – Leukaemia Research

The Opportunity We are a collaborative group focused on improving outcomes for children with leukaemia. The Research Assistant will evaluate novel