JIMD Podcasts

• Imaging readiness in the gene therapy era

  Asthik Biswas, Spyros Batzios, and Kshitij Mankad expand on their recent letter to the editor to explain why ushering in the new era of gene therapy treatments requires not just clinical but also imaging readiness. Imaging readiness in the gene therapy era-exploring standardized protocols for response assessment Asthik Biswas, et al https://doi.org/10.1002/jimd.12828

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• IMD Research Round-Up: Congenital Disorders of Glycosylation

  Dr Matthew Wilson, Postdoctoral Fellow at the Centre for Human Genetics, KU Leuven, joins hosts Silvia Radenkovic and Rodrigo Starosta to discuss a scintillating selection of CDG papers in our first ever research round-up. The papers discussed include: A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis. Wilson et al Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology. Ng et al Rft1 catalyzes lipid-linked oligosaccharide translocation across the ER membrane. Chen et al Molecular characterization of Rft1, an ER membrane protein associated with congenital disorder of glycosylation RFT1-CDG. Hirata et al Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing. Morales-Romero et al N-glycoproteomic and proteomic alterations in SRD5A3-deficient fibroblasts. Garapati et al In vitro treatment with liposome-encapsulated Mannose-1-phosphate restores N-glycosylation in PMM2-CDG patient-derived fibroblasts. Shirakura et al Liposome-encapsulated mannose-1-phosphate therapy improves global N-glycosylation in different congenital disorders of glycosylation. Budhraja et al D-mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG). Starosta et al Glycoproteomics in Cerebrospinal Fluid Reveals Brain-Specific Glycosylation Changes. Baerenfaenger et al Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models. Radenkovic et al

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  39:58
• Exploring the disease burden in Arginase 1 deficiency

  It's an Arg1 extravaganza as Reena Sharma, Sara Olofsson, Karolina Stepien and Alison Woodall discuss three separate papers looking at the Salford Royal experience of a cohort of adults with Arginase 1 deficiency and the wider health and societal cost of the condition. Retrospective analysis of arginase 1 deficiency progression in adults over 5 years at a single metabolic centre Reena Sharma et al https://doi.org/10.1002/jmd2.12450 Disease burden among patients with Arginase 1 deficiency and their caregivers: A multinational, cross-sectional survey Sara Olofsson et al https://doi.org/10.1002/jmd2.12456 Societal costs and quality of life associated with arginase 1 deficiency in a European setting – a multinational, cross-sectional survey Sara Olofsson et al https://doi.org/10.1080/13696998.2024.2400856

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• Shortcast: D,L-3-hydroxybutyrate in the treatment of glucose transporter 1 deficiency syndrome (Glut1DS)

  In this Shortcast, Dr Aya Amer presents the New Zealand experience of using ketone (D,L-3-HB) supplementation in 12 patients (aged 10-50 years) with GLUT1DS. D,L-3-hydroxybutyrate in the treatment of glucose transporter 1 deficiency syndrome (Glut1DS) Aya Amer, et al https://doi.org/10.1002/jmd2.12461

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• Citrulline: beyond the urea cycle

  Marshall Summar explains why common polymorphisms and basic physiology mean that L-citrulline may have a role in sickle cell disease, bronchopulmonary dysplasia and even asthma. Potential therapeutic uses of L-citrulline beyond genetic urea cycle disorders Marshall Summar https://doi.org/10.1002/jimd.12810

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