📇 Rhumatologue · SERRIS · (77) · Salarié

MME Sophia BELHADJIN

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Auteur de référence en rhumatologie
35 articles scientifiques publiés — un praticien à la pointe de la recherche
Délais de RDV courts dans la région
65.4 rhumatos / 100 000 hab. — département bien doté

Rhumatologue

📍 SERRIS (77)SalariéRPPS 10000028059

✨ Génération du profil synthétique IA en cours…

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INSTITUT MEDICAL DE SERRIS CRS DU RHIN, 77700 SERRIS
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Top publications · les plus citées

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study

Brain : a journal of neurology · 2024

📚 73 citations🎯 RCR 17.11Top 1% NIH🩺 Clinique🔓 Open Access📄 PDF gratuit ↗

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AbstractEstimates of the spectrum and frequency of pathogenic variants in Parkinson’s disease (PD) in different populations are currently limited and biased. Furthermore, although therapeutic modification of several genetic targets has reached the clinical trial stage, a major obstacle in conducting these trials is that PD patients are largely unaware of their genetic status and, therefore, cannot be recruited. Expanding the number of investigated PD-related genes and including genes related to disorders with overlapping clinical features in large, well-phenotyped PD patient groups is a prerequisite for capturing the full variant spectrum underlying PD and for stratifying and prioritizing patients for gene-targeted clinical trials. The Rostock Parkinson’s disease (ROPAD) study is an observational clinical study aiming to determine the frequency and spectrum of genetic variants contributing to PD in a large international cohort.We investigated variants in 50 genes with either an established relevance for PD or possible phenotypic overlap in a group of 12 580 PD patients from 16 countries [62.3% male; 92.0% White; 27.0% positive family history (FH+), median age at onset (AAO) 59 years] using a next-generation sequencing panel.Altogether, in 1864 (14.8%) ROPAD participants (58.1% male; 91.0% White, 35.5% FH+, median AAO 55 years), a PD-relevant genetic test (PDGT) was positive based on GBA1 risk variants (10.4%) or pathogenic/likely pathogenic variants in LRRK2 (2.9%), PRKN (0.9%), SNCA (0.2%) or PINK1 (0.1%) or a combination of two genetic findings in two genes (∼0.2%). Of note, the adjusted positive PDGT fraction, i.e. the fraction of positive PDGTs per country weighted by the fraction of the population of the world that they represent, was 14.5%. Positive PDGTs were identified in 19.9% of patients with an AAO ≤ 50 years, in 19.5% of patients with FH+ and in 26.9% with an AAO ≤ 50 years and FH+. In comparison to the idiopathic PD group (6846 patients with benign variants), the positive PDGT group had a significantly lower AAO (4 years, P = 9 × 10−34). The probability of a positive PDGT decreased by 3% with every additional AAO year (P = 1 × 10−35). Female patients were 22% more likely to have a positive PDGT (P = 3 × 10−4), and for individuals with FH+ this likelihood was 55% higher (P = 1 × 10−14). About 0.8% of the ROPAD participants had positive genetic testing findings in parkinsonism-, dystonia/dyskinesia- or dementia-related genes.In the emerging era of gene-targeted PD clinical trials, our finding that ∼15% of patients harbour potentially actionable genetic variants offers an important prospect to affected individuals and their families and underlines the need for genetic testing in PD patients. Thus, the insights from the ROPAD study allow for data-driven, differential genetic counselling across the spectrum of different AAOs and family histories and promote a possible policy change in the application of genetic testing as a routine part of patient evaluation and care in PD.

Prevalence of Oral Submucous Fibrosis With Other Oral Potentially Malignant Disorders: A Clinical Retrospective Study

Cureus · 2023

📚 12 citations🎯 RCR 3.65Top 12% NIH🔓 Open Access📄 PDF gratuit ↗

A Review of the Regulatory Challenges of Personalized Medicine

Cureus · 2024

📚 11 citations🎯 RCR 2.24Top 23% NIH🔓 Open Access📄 PDF gratuit ↗

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MME Sophia BELHADJIN

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Top publications · les plus citées

Publications scientifiques (35) — classées par pathologie

Transversal10

Revue générale5

Case report / série4

Épidémiologie & registres3

Génétique2

Lupus2

Biomarqueurs / Auto-Ac1

csDMARDs1

Économie santé1

Essai clinique1

IRM ostéo-articulaire1

Pédiatrie1

Pharmacovigilance1

Revue / méta-analyse1

Sclérodermie1

Sjögren1

Tendinopathies & SCC1

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