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        1-12 of 102 results for 'rare disease day'

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        CRISPR gene editing and stem cell disease modelling: a new path to genetic and rare disease patient diagnosis

        Vanessa Timo Fear Lassmann VF T BSc (Hons), PhD BSc (Hons) MSc PhD Head, Translational Genetics Team Feilman Fellow; Program Head, Precision Health and Team Lead, Computational Biology 08 6319 1022 vanessa.fear@telethonkids.org.au timo.lassmann@ ...

        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

        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

        Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease

        Genomic sequencing in congenital heart disease (CHD) patients often discovers novel genetic variants, which are classified as variants of uncertain significance (VUS). Functional analysis of each VUS is required in specialised laboratories, to determine whether the VUS is disease causative or not, leading to lengthy diagnostic delays. ...

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        Efficacy of oral amoxicillin-clavulanate or azithromycin for non-severe respiratory exacerbations in children with bronchiectasis (BEST-1)

        Amoxicillin-clavulanate treatment is beneficial in terms of resolution of non-severe exacerbations of bronchiectasis in children ...

        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. ...

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        A phenotype centric benchmark of variant prioritisation tools

        We hypothesised that the performance of variant prioriisation tools may vary by disease phenotype. ...

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        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. ...

        Research

        A flexible computational pipeline for research analyses of unsolved clinical exome cases

        Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar. ...

        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 ...

        Research

        Functional validation of variants of unknown significance using CRISPR gene editing and transcriptomics: A Kleefstra syndrome case study

        There are an estimated > 400 million people living with a rare disease globally, with genetic variants the cause of approximately 80% of cases. Next Generation Sequencing (NGS) rapidly identifies genetic variants however they are often of unknown significance. ...

        Research

        Family Study of Ear Health and Metabolic Diseases in a Western Australian Aboriginal Community

        Jenefer Timo Sarra Blackwell Lassmann Jamieson JM T SE BSc with First Class Honours, PhD, DSc, FMedSci, FAA BSc (Hons) MSc PhD BSc (Hons) MSc PhD Head, Genetics & Health Feilman Fellow; Program Head, Precision Health and Team Lead, Computational ...

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