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Research

Diffuse Intrinsic Pontine Glioma

This chapter summarizes recent advances in diffuse intrinsic pontine glioma and potential novel therapies

Research

Randomized controlled trial of early regular egg intake to prevent egg allergy

We aimed to determine whether regular consumption of egg protein from 4-6 month old reduced the risk of IgE-mediated egg allergy in infants without eczema.

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CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction

An estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered. 

Research

Parental perspectives on the communication abilities of their daughters with Rett syndrome

How females with Rett syndrome communicate in everyday life and the barriers and facilitators to successful communication

Research

Controlling acute rheumatic fever and rheumatic heart disease in developing countries: Are we getting closer?

Improved opportunities for the primary prevention of ARF now exist, because of point-of-care antigen tests for Streptococcus pyogenes, and clinical decision...

Research

Changes in the clinical and epidemiological features of group A streptococcal bacteraemia in Australia's Northern Territory

This study adds to emerging data suggesting increasing importance of iGAS in low- and middle-income settings globally.

Research

Folate pathway gene polymorphisms, maternal folic acid use, and risk of childhood acute lymphoblastic leukaemia

Several studies suggest that maternal folic acid supplementation before or during pregnancy protects against childhood acute lymphoblastic leukaemia (ALL).

Research

A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies

These results highlight how UNICORN can enable reliable, powerful, and convenient genetic association analyses without access to the individual-level data

Research

Systematic chemical and molecular profiling of MLL-rearranged infant acute lymphoblastic leukemia reveals efficacy of romidepsin

Identified romidepsin as a promising therapeutic for mixed lineage leukemia (MLL)-rearranged infant acute lymphoblastic leukemia