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RhumatologueMédecins généralistes et spécialistes👤 Libéral intégral

M. Docteur BERNARD FRAISSINE

📍 Rodez (12)Libéral💶 Secteur 1RPPS 10002834637
🏆 1 DU/DIU

✨ Profil synthétique

IA · 29/04/2026

Le Docteur BERNARD FRAISSINE est un rhumatologue libéral à Rodez, titulaire d'un Diplôme Universitaire en Médecine du Sport. Ses publications sur PubMed suggèrent un intérêt pour la génétique, la pédiatrie et la pharmacovigilance dans le contexte de la rhumatologie. Il a également publié des travaux sur les biomarqueurs, les essais cliniques et la qualité de vie des patients.

Expertises présumées

  • Rhumatologie pédiatrique
  • Génétique des maladies rhumatismales
  • Pharmacovigilance en rhumatologie
  • Biomarqueurs en rhumatologie
  • Essais cliniques en rhumatologie
  • Médecine du sport
  • Qualité de vie des patients rhumatismaux

Synthèse automatique à partir des sources publiques (HAL, OpenAlex, theses.fr, ClinicalTrials.gov, FAI²R, ANS). Pas une évaluation clinique. Le médecin peut corriger via son compte.

Diplômes

🎓 DES & spécialité ordinale

  • Rhumatologie (SM)

📚 CES (Certificat d'Études Spéciales)

  • CES Rhumatologie
  • CES Médecine appliquée aux sports

🎯 Capacités

  • Médecine appliquée aux sports (C)

🎓 Diplômes

  • DE Docteur en médecine

Source : Annuaire Santé ANS (FHIR Practitioner.qualification) · Mises à jour quotidiennes.

🏆 DU / DIU rhumato reconnus

Localisation

Adresses géocodées via la Base Adresse Nationale (api-adresse.data.gouv.fr). Précision indicative.

Lieu de consultation

Tarifs & secteur de conventionnement

🟢 Secteur 1 — Tarif conventionnéSource CNAM (Annuaire santé Ameli)
💳 Carte VitaleLibéral intégral
📊 Comprendre le remboursement

Prendre rendez-vous & contact

🗓 Trouver sur Doctolib📇 Ajouter à mes contacts

Lien Doctolib = recherche Google site:doctolib.fr (le 1er résultat est presque toujours le profil correct s'il existe).

Top publications · les plus citées

  • 1
    Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

    Nature genetics · 2026

    📚 4 citations🔓 Open Access📄 PDF gratuit ↗
    Lire l'abstract Crossref ↓

    Abstract Small nuclear RNAs (snRNAs) are essential components of the spliceosome. De novo variants in snRNA genes RNU4-2 (ReNU syndrome), RNU5B-1 and RNU2-2 have been linked to dominant neurodevelopmental disorders (NDDs), revealing a large unexpected contribution of noncoding RNA genes to genetic diseases. Here, through international collaborations, we analyze systematically 200 potentially functional snRNA genes in a French cohort of 34,329 people with rare disorders. We report RNU2-2 variants in 141 individuals, including 35 with recurrent dominant pathogenic variants and 91 affected members from 73 families with biallelic variants. Recessive RNU2-2 NDD is at least twice as frequent as the dominant form and often involves a de novo variant in trans with an inherited allele, consistent with the high mutability of snRNA genes. Dominant and recessive RNU2-2 NDDs share overlapping clinical features, with frequent epilepsy. Blood transcriptomics and DNA methylation analyses revealed subtle, variant-specific effects on splicing and episignatures. Our results support a gradient-of-impact model bridging dominant and recessive inheritance, and establish RNU2-2 variants as a principal contributor to NDDs, nearly as prevalent as ReNU syndrome.

  • 2
    In vivo site-specific engineering to reprogram T cells

    Nature · 2026

    📚 2 citations🔓 Open Access
    Lire l'abstract Crossref ↓

    Abstract Engineered T cells, reprogrammed to express chimeric antigen receptors (CAR) or T cell receptors (TCR), have transformed cancer treatment and are being explored as therapeutics for autoimmune and infectious diseases. Enhancing T cell function through genome editing, either by disrupting endogenous genes or precisely inserting DNA payloads, has shown considerable promise 1 . However, the ex vivo manufacturing process is lengthy and costly, limiting accessibility of these therapies. In vivo generation of CAR T cells could overcome these barriers, but current methods rely either on transient expression with limited durability, or on random integration of DNA payloads that lack specificity. Here we demonstrate that stable and cell-specific transgene expression can be achieved through in vivo site-specific integration of large DNA payloads. We developed a two-vector system to deliver CRISPR–Cas9 ribonucleoproteins and a DNA donor template, using enveloped delivery vehicles and adeno-associated viruses, respectively. We optimized both vectors for T cell-specific delivery and gene-targeting efficiency. By integrating a CAR transgene into a T cell-specific locus, we generate therapeutic levels of CAR T cells in vivo in humanized mouse models of B cell aplasia, and haematological and solid malignancies. These findings offer a pathway to more efficient, precise and widely accessible T cell therapies.

  • 3
    The longitudinal associations of reading, writing and screen time with myopia at age 9 years among children from the GUSTO birth cohort

    Acta ophthalmologica · 2026

    📚 1 citations🔓 Open Access📄 PDF gratuit ↗
    Lire l'abstract Crossref ↓

    Abstract Purpose To investigate the associations between paper‐based reading and writing time, screen‐based time at ages 2, 3, 6 and 9 years and myopia at age 9 in the GUSTO birth cohort. Methods The GUSTO study recruited pregnant women from two Singapore public maternity hospitals between 2009 and 2010. Parent‐reported reading and writing time, screen time and outdoor time were collected at ages 2, 3, 6 and 9 years. Cycloplegic autorefraction and axial length were measured at age 9. Myopia was defined as a spherical equivalent ≤−0.5 D. Associations between near work exposures and myopia were examined using multivariable regression with generalised estimating equations. Results Among 471 children (942 eyes), 37.3% were myopic at age 9 years. Greater reading and writing time at ages 6 and 9 were associated with higher odds of myopia at age 9 (OR [95% CI] = 1.20 [1.02–1.42] and 1.11 [1.02–1.22] per h/day, respectively). Children spending >3 h/day reading and writing at age 9 had 76% higher odds of myopia than those spending ≤3 h/day (OR = 1.76, 95% CI: 1.08–2.85). Reading and writing time at ages 2 and 3 years, and screen time at all age groups showed no significant association with myopia at age 9. Conclusions Traditional paper‐based reading and writing, but not screen time, were associated with myopia in Singaporean children. Future studies with larger samples and objective screen time measures are needed to evaluate the distinct role of screen time in myopia.

Publications scientifiques (50) — classées par pathologie

Source PubMed · Recherche par auteur (homonymes possibles, vérifier l'affiliation).

Transversal39

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Génétique2

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Pédiatrie2

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Pharmacovigilance2

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Biomarqueurs / Auto-Ac1

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Essai clinique1

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Qualité de vie / PROMs1

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Revue générale1

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Santé mentale / fatigue1

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Vraie vie / RWE1

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