Although the genetic architecture of amyotrophic lateral sclerosis (ALS), which is not fully understood, recent findings indicate a complex model of inheritance in ALS, which is consistent with a multistep pathogenetic process. Therefore, the purpose of our work is to further explore the architecture of ALS using targeted next generation sequencing (NGS) analysis, enriched motor neuron disease (MND) -associated genes are also involved in the descent motor axonal neuropathy (HMN), in to investigate whether the expression of disease, including the level of development, can be influenced by a combination of rare gene variants.
We analyzed 29 genes in a cohort of 83 patients with both Italian families and sporadic ALS. Overall, we detected 43 rare variants in 17 different genes and found that 43.4% of ALS patients harbored variants in at least one of the genes investigated. Of note, 27.9% of the variants identified in other MND- and HMN-related genes. In addition, several gene variants were identified in 17% of patients. Expenses rare variants associated with decreased survival and the time to reach the King of stage 4, ie, the time to reach the requirement of percutaneous endoscopic gastrostomy (PEG) position or non-invasive mechanical ventilation (NIMV) initiation, independent of known negative prognostic factor.
Our data contribute to a better understanding of the molecular basis of ALS support the hypothesis that the burden of rare variants may play a role in the model stage of disease and can cause negative prognostic effect. In addition, we extend the genetic landscape MND ALS-related genes traditionally involved in degenerative diseases of peripheral axons, such as HMN and CMT2.
Pediatric oncology research for the advancement of next-generation sequencing (NGS) to unfairly benefit all children, diverse and representative sample of participants is required. However, little is known about the demographic and clinical characteristics that distinguish family declining enrollment in pediatric oncology NGS research.Demographic and retrospective clinical data were extracted for oncology patients 363 children (0-21 years old) approach to enrollment on Genome for Children (G4K) a study examining the feasibility of a comprehensive clinical genome analysis of tumor and matched normal samples
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