Publications by authors named "H Dekker"
Background: Inherited metabolic diseases (IMDs) may have considerable implications for patients and their families. Despite their individual rarity, covering a spectrum of over 1800 distinct diseases, the diseases collectively exert a significant impact, with often lifelong disabilities. The United for Metabolic Diseases consortium was established to catalyze research with translation into the best possible care.
View Article and Find Full Text PDFThe core spliceosome Sm proteins are gaining attention as potential targets for cancer treatment. Here, we evaluate this, with focus on SmD2. A pan-cancer analysis including 26 solid tumor types revealed that the SmD2-encoding gene was overexpressed in almost all cancers.
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- This study explores the preferences and risk tolerance regarding gene therapy among patients with different lysosomal storage disorders, including Gaucher disease, Fabry disease, and mucopolysaccharidosis type III A/B.
- Using a survey designed based on previous focus group findings, researchers assessed how individuals valued various aspects of gene therapy against their current treatment options.
- Results indicated that patients with more severe disease tended to have higher risk tolerance for gene therapy, with Gaucher disease respondents generally preferring standard care, while those with mucopolysaccharidosis type III were more open to the risks associated with gene therapy.
Article Synopsis
- Progress in genetic diagnosis and orphan drug legislation has led to new therapies for rare neurogenetic diseases (RNDs), but challenges remain in academia, regulation, and finances.
- The study aims to create a practical framework for developing patient registries that address these challenges and enhance outcomes in care, research, and drug development for RNDs.
- A comprehensive approach combining literature review, interviews with existing registries, and feedback from various stakeholders was used to ensure the framework meets diverse needs and emphasizes key principles like accessible, independent, and trustworthy data governance.
Introduction: Metachromatic leukodystrophy (MLD) is a rare autosomal recessive lysosomal storage disorder resulting from arylsulfatase A enzyme deficiency, leading to toxic sulfatide accumulation. As a result affected individuals exhibit progressive neurodegeneration. Treatments such as hematopoietic stem cell transplantation (HSCT) and gene therapy are effective when administered pre-symptomatically.
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