Molecular diagnostic approach to rare neurological diseases from a clinician viewpoint

Genomics & Informatics, Год журнала: 2024, Номер 22(1)

Опубликована: Окт. 10, 2024

Advancements in sequencing technology have significantly enhanced diagnostic capabilities for rare neurological diseases. This progress molecular diagnostics can greatly impact clinical management and facilitate the development of personalized treatments patients with Neurologists expertise should raise awareness, as phenotyping remains crucial making a diagnosis, even genomics era. They prioritize different types genomic tests, considering both benefits limitations inherent to each test. Notably, long-read is being utilized cases suspected involve repeat expansion disorders or complex structural variants. Repeat are highly prevalent diseases, particularly within ataxia group. Significant efforts, including periodic reanalysis, data sharing, integration multi-omics studies, be directed toward that remain undiagnosed after standard next-generation sequencing.

Язык: Английский

Studying Rare Movement Disorders: From Whole-Exome Sequencing to New Diagnostic and Therapeutic Approaches in a Modern Genetic Clinic

Biomedicines, Год журнала: 2024, Номер 12(12), С. 2673 - 2673

Опубликована: Ноя. 23, 2024

Background: Rare movement disorders often have a genetic etiology. New technological advances increased the odds of achieving diagnoses: next-generation sequencing (NGS) (whole-exome sequencing—WES; whole-genome sequencing—WGS) and long-read (LRS). In 2017, we launched WES program for patients with rare suspected We aim to describe accumulated experience modern disorder clinic, highlighting how different available tests might be prioritized according clinical phenotype pattern inheritance. Methods: Participants were studied through analysis. Descriptive statistics, including mean, standard deviation, counts, percentages, used summarize demographic characteristics in all subjects each type result [pathogenic or likely pathogenic, variants uncertain significance (VUS), negative]. Results: 88 (93.2% Caucasian, 5.72% African American, 1.08% Hispanic Latino). After excluding six family members from four index participants, diagnostic yield reached 27% (22/82 probands). The age at onset was significantly lower pathogenic/likely pathogenic variants. most common phenotypes ataxia parkinsonism. Dystonia, ataxia, leukoencephalopathy, parkinsonism associated diagnoses. Conclusions: propose comprehensive protocol decision tree testing WGS LRS, return results, re-analysis inconclusive data increase neurogenetic disorders.

Язык: Английский