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[Gene editing is changing the treatment of hereditary diseases].
Lakartidningen
January 2025
docent, verksamhetschef, Karolinska centrum för cellterapi (KCC), Karolinska universitetssjukhuset, Stockholm; Karolins-ka ATMP-centrum; institutionen för laboratorie-medicin, Karolinska institutet.
Gene editing is a novel technology within gene therapy, which changes sequences in chromosomal DNA with precision. Even if there are alternative strategies, the Nobel Prize-winning CRISPR/Cas technology has become the dominating principle. During recent years base editing and prime editing, permitting editing without DNA double-strand breaks, have been developed.
View Article and Find Full Text PDFHereditary Transthyretin Amyloidosis in Israel: Genetic Landscape and Clinical Characteristics.
Eur J Neurol
February 2025
Faculty of Medical & Health Sciences, Tel Aviv University, Tel Aviv, Israel.
Background: Hereditary transthyretin (ATTRv) amyloidosis is a rare, adult-onset autosomal-dominant disorder caused by pathogenic variants in the transthyretin (TTR) gene. Data about relevant variants in specific populations and typical initial manifestations may facilitate early diagnosis and treatment. We here describe the genetic landscape of ATTRv amyloidosis in Israel.
View Article and Find Full Text PDFClinicopathologic stratification demonstrates survival differences between endometrial carcinomas with mismatch repair deficiency and no specific molecular profile: a cohort study.
Int J Gynecol Cancer
January 2025
Helsinki University Hospital and University of Helsinki, Department of Obstetrics and Gynecology, Helsinki, Finland; University of Helsinki, Faculty of Medicine, Helsinki University Hospital and Research Program in Applied Tumor Genomics, Department of Pathology, Helsinki, Finland.
Objective: Endometrial carcinomas with mismatch repair deficiency (MMRd) and no specific molecular profile (NSMP) are considered to have intermediate prognoses. However, potential prognostic differences between these molecular subgroups remain unclear due to the lack of standardized control for clinicopathologic factors. This study aims to evaluate outcomes of MMRd and NSMP endometrial carcinomas across guideline-based clinicopathologic risk groups.
View Article and Find Full Text PDFNovel NOTCH3 mutation c.1564 T > A (p.Cys522Ser) presenting with early-onset Parkinsonism and white matter lesions.
Clin Park Relat Disord
January 2025
Cerebrovascular Unit Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy.
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary small vessel disease caused by mutations in the NOTCH3 gene, characterized by recurrent strokes, cognitive decline, and psychiatric symptoms. This report presents a novel NOTCH3 c.1564 T > A (p.
View Article and Find Full Text PDFFactors influencing role preferences in decision-making of healthy women with BRCA1/2 pathogenic variants: subanalysis from a randomised controlled decision coaching trial.
BMC Cancer
January 2025
Faculty of Medicine, University of Cologne and Institute for Health Economics and Clinical Epidemiology, University Hospital Cologne, Cologne, Germany.
Background: Patients who actively engage in their medical decision-making processes can experience better health outcomes. This exploratory study aimed to identify predictors of preferred and actual roles in decision-making in healthy women with BRCA1/2 pathogenic variants (PVs).
Methods: Women with BRCA1/2 PVs without a history of breast and/or ovarian cancer were recruited in six centres across Germany.
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