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        Research

        An introduction to clinical trial design

        This manuscript will give a brief overview of clinical trial design including the strengths and limitations of various approaches ...

        Research

        An expanded phenotype centric benchmark of variant prioritisation tools

        Identifying the causal variant for diagnosis of genetic diseases is challenging when using next-generation sequencing approaches and variant prioritization tools can assist in this task. These tools provide in silico predictions of variant pathogenicity, however they are agnostic to the disease under study. We previously performed a disease-specific benchmark of 24 such tools to assess how they perform in different disease contexts. ...

        QUINTET Study

        Contact us If you'd like to get in touch, please contact us by phone or email. Phone: 0400 450 240 Email: vtg@telethonkids.org.au We are looking for ...

        Research

        Rare childhood cancers—an increasing entity requiring the need for global consensus and collaboration

        Rare childhood cancers have not benefited to the same extent from the gains that have been made for their frequently occurring counterparts. ...

        Research

        Zika: Is there an underlying genetic/epigenetic basis to microcephaly and eye damage due to congenital Zika virus infection?

        Jenefer Timo Blackwell Lassmann JM T BSc with First Class Honours, PhD, DSc, FMedSci, FAA BSc (Hons) MSc PhD Head, Genetics & Health Feilman Fellow; ...

        News & Events

        Critical mass in rare diseases - an innovative internet approach

        The internet is emerging as a valuable tool for scientists to gather data for critical research into rare diseases. ...

        Research

        Monitoring disease progression in childhood bronchiectasis

        Bronchiectasis (not related to cystic fibrosis) is a chronic lung disease caused by a range of etiologies but characterized by abnormal airway dilatation, recurrent respiratory symptoms, impaired quality of life and reduced life expectancy. ...

        Research

        World Allergy Organization (WAO) Diagnosis and Rationale for Action against Cow's Milk Allergy (DRACMA) guidelines update – X – Breastfeeding a baby with cow's milk allergy

        Cow's milk allergy is rare in exclusively breastfed infants. To support the continuation of breastfeeding an infant after diagnosis with a cow's milk allergy, it is critical to examine the evidence for and against any form of cow's milk elimination diet for lactating mothers. In this narrative review, we highlight the lack of high-quality evidence, hence subsequent controversy, regarding whether the minuscule quantities of cow's milk proteins detectable in human milk cause infant cow's milk allergy symptoms. ...

        Research

        Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea

        We report an 8 year old girl who was diagnosed with THES by the Undiagnosed Disease Program-WA with compound heterozygous pathogenic variants in SKIV2L ...

        Infectious Disease Surveillance

        Contact us If you'd like to get in touch, please contact us by phone or email. Phone: 0400 450 240 Email: vtg@telethonkids.org.au PAEDS - ...

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