Letícia Bitencourt Uberti, Marcia Keske-Soares, Karina Carlesso Pagliarin
Development of the Digital Speech Assessment Instrument
American journal of speech-language pathology
new technologies genetic diagnostics revolutionized understanding management rare diseases review highlights significant advances latest developments genetic diagnostics inborn errors immunity iei encompass diverse group disorders characterized defects immune system leading increased susceptibility infections autoimmunity autoinflammatory diseases allergies malignancies various diagnostic approaches including targeted gene sequencing panels whole exome sequencing whole genome sequencing rna sequencing proteomics enabled identification causative genetic variants rare diseases technologies facilitated accurate diagnosis iei also provided valuable insights underlying molecular mechanisms emerging technologies currently mainly used research optical genome mapping single cell sequencing application artificial intelligence allow even insights aetiology hereditary immune defects near future integration genetic diagnostics clinical practice significantly impacts patient care genetic testing enables early diagnosis facilitating timely interventions personalized treatment strategies additionally establishing genetic diagnosis necessary genetic counselling prognostic assessments identifying specific genetic variants associated inborn errors immunity also paved way development targeted therapies novel therapeutic approaches review emphasizes challenges related genetic diagnosis rare diseases provides future directions specifically focusing iei despite tremendous progress achieved last years several obstacles remain become even important due increasing amount genetic data produced patient includes first foremost interpretation variants unknown significance vus known iei genes variants genes unknown significance gus although genetic diagnostics significantly contributed understanding management iei rare diseases research exchange experts different clinical disciplines data integration establishment comprehensive guidelines crucial tackle remaining challenges maximize potential genetic diagnostics field rare diseases iei