Research

A novel homozygous PSAP mutation identified by whole exome sequencing in a consanguineous family with metachromatic leukodystrophy: a case report

Research / December 12, 2024

The article “A novel homozygous PSAP mutation identified by whole exome sequencing in a consanguineous family with metachromatic leukodystrophy: a case report” describes a rare genetic mutation linked to metachromatic leukodystrophy (MLD), a devastating lysosomal storage disorder. Here’s an explanation of the study and its significance: What is Metachromatic Leukodystrophy (MLD)? MLD is a genetic …

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Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte‐lineage cells established from patients with Sjögren‐Larsson syndrome

Research / December 12, 2024

The study “Accumulation of Ether Phospholipids in Induced Pluripotent Stem Cells and Oligodendrocyte-Lineage Cells Established from Patients with Sjögren-Larsson Syndrome” investigates a rare genetic disorder called Sjögren-Larsson Syndrome (SLS) using advanced stem cell techniques. Here’s a simpler explanation of what the researchers did and found: What is Sjögren-Larsson Syndrome? SLS is a condition caused by …

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Human iPSC-derived myelinating organoids and globoid cells to study Krabbe disease

Research / December 12, 2024

The article, “Human iPSC-derived myelinating organoids and globoid cells to study Krabbe disease”, explores innovative in vitro methods to study Krabbe disease (KD), a severe lysosomal storage disorder. Using induced pluripotent stem cells (iPSCs), the research develops human-based models that replicate key aspects of the disease, providing insights into its mechanisms and potential therapeutic approaches. …

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Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy

Research / November 25, 2024

The study publicshed in the New England Journal of Medicine titled “Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy” investigates the long-term safety of the gene therapy elivaldogene autotemcel (eli-cel) in patients with cerebral adrenoleukodystrophy (CALD). The therapy modifies patients’ own blood-forming stem cells to include a functional gene to manage CALD. However, 7 of …

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Experiences of mothers of long-term surviving patients with cerebral adrenoleukodystrophy: a qualitative study

Research / November 25, 2024

Experiences of mothers of long-term surviving patients with cerebral adrenoleukodystrophy: a qualitative study Overview: The study focuses on the lived experiences of mothers caring for long-term survivors of cerebral adrenoleukodystrophy (CALD), a rare genetic disorder affecting the nervous system. It employs qualitative research methods, including in-depth interviews with mothers, to gather rich, personal insights. Key …

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Gene therapy shows long-term benefit for patients with Cerebral adrenoleukodystrophy (CALD)

Research / November 25, 2024

Gene therapy shows long-term benefit for patients with Cerebral adrenoleukodystrophy (CALD) Overview: In a study published in The New England Journal of Medicine, lentiviral gene therapy using elivaldogene autotemcel (eli-cel) showed promising results in treating cerebral adrenoleukodystrophy (CALD) in boys. Over a 24-month period, 91% of participants survived without major functional disabilities, and 94% showed …

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