Publications by authors named "S N Tabrizi"
Technical advances over the past two decades have enabled robust detection of cell-free DNA (cfDNA) in biological samples. Yet, higher clinical sensitivity is required to realize the full potential of liquid biopsies. This opinion article argues that to overcome current limitations, the abundance of informative cfDNA molecules - such as circulating tumor DNA (ctDNA) - collected in a sample needs to increase.
View Article and Find Full Text PDFBackground: Genetic testing for Huntington's disease (HD) was initially usually positive but more recently the negative rate has increased: patients with negative HD tests are described as having HD phenocopy syndromes (HDPC). This study examines their clinical characteristics and investigates the genetic causes of HDPC.
Methods: Clinical data from neurogenetics clinics and HDPC gene-panel data were analysed.
Article Synopsis
- Repeat expansion disorders (REDs) are mostly neurological diseases affecting about 1 in 3,000 people worldwide, but true prevalence may be underestimated due to varied symptoms and geographic factors.
- Analysis of genetic data from over 82,000 individuals indicates that the actual frequency of REDs is about 1 in 283, suggesting many cases go undiagnosed.
- Most REDs are found across diverse populations, countering the idea that some are limited to specific ethnic groups, which has important implications for health care and genetic counseling.
Article Synopsis
- Australia implemented a national HPV vaccination program for girls in 2007 and boys in 2013, achieving strong coverage among both groups, with a study focusing on HPV prevalence among men aged 18-35 based on their vaccination status.
- Of the 1,625 men studied, the HPV prevalence was similar for vaccinated and unvaccinated men who have sex with women (10.6% vs. 10.7%), while unvaccinated men who have sex with men had a significantly higher prevalence (40.3%) compared to vaccinated men (29.9%).
- The findings highlight that universal vaccination is crucial for all adolescents, particularly to ensure that men who have sex with men also gain protection from HPV, as older
Background And Objectives: Disease-modifying treatments (DMTs) such as gene therapy are currently under investigation as a potential treatment for Huntington disease (HD). Our objective was to estimate the long-term natural history of HD progression and explore the potential efficacy impacts and value of a hypothetical DMT using a decision-analytic modeling framework.
Methods: We developed a health state transition model that separately analyzed 40-year-old individuals with prefunctional decline (PFD, HD Integrated Staging System [HD-ISS] stage <3, total functional score [TFC] 13), active functional decline Shoulson and Fahn category 1 (SF1, HD-ISS stage 3, TFC 13-11), and SF2 (HD-ISS stage 3, TFC 10-7).