Publications by authors named "Lauren Dreyer"
Article Synopsis
- - Rare diseases impact over 300 million people globally and are becoming a priority in global health discussions, recognized by the UN and WHO initiatives.
- - Individuals with rare diseases often struggle with accessing essential health services like screening, diagnosis, and treatment, highlighting the importance of awareness and education in primary healthcare.
- - The International Rare Diseases Research Consortium (IRDiRC) is forming a task force to explore ways to enhance the role of primary healthcare providers in overcoming the challenges faced by those with rare diseases.
A case of a missense RBM10 variant in an adult with mild to moderate intellectual disability.
View Article and Find Full Text PDFExome 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.
View Article and Find Full Text PDFMultiple TREX mRNA export complex subunits (e.g., THOC1, THOC2, THOC5, THOC6, THOC7) have now been implicated in neurodevelopmental disorders (NDDs), neurodegeneration and cancer.
View Article and Find Full Text PDFObjective: The study is aimed at widening the clinical and genetic spectrum and at assessing genotype-phenotype associations in encephalopathy.
Methods: Through diagnostic gene panel screening in an epilepsy cohort, and recruiting through GeneMatcher and our international network, we collected 10 patients with biallelic variants. In addition, we collected data on 12 patients described in the literature to further delineate the associated phenotype in a total cohort of 22 patients.
Article Synopsis
- * The research involved analyzing genetic data and clinical phenotyping to understand the syndrome's symptoms, which include hypotonia, facial dysmorphia, and various neurological and physical issues.
- * Our findings reveal significant variability in the symptoms associated with TAF1 mutations, indicating challenges in pinpointing the exact effects of specific genetic changes, especially for genes on the X chromosome.
Silver-Russell syndrome (SRS OMIM 180860) is a rare, albeit well-recognized disorder characterized by severe intrauterine and postnatal growth retardation. It remains a clinical diagnosis with a molecular cause identifiable in approximately 60%-70% of patients. We report a 4-year-old Australian Aboriginal girl who was born at 32 weeks gestation with features strongly suggestive of SRS, after extensive investigation she was referred to our undiagnosed disease program (UDP).
View Article and Find Full Text PDF