Year: 2024

Analysis of GFAP Variants in UK Biobank Suggests Underdiagnosis or Incomplete Penetrance of Adult-Onset Alexander Disease

Research / December 18, 2024

The article “Analysis of GFAP Variants in UK Biobank Suggests Underdiagnosis or Incomplete Penetrance of Adult-Onset Alexander Disease” investigates the prevalence and clinical significance of mutations in the GFAP gene, which are linked to Alexander disease. This rare neurodegenerative disorder affects the white matter of the central nervous system, leading to a progressive decline in …

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Finding Strength in Community: Jen’s Story

Share Your Story / November 27, 2024

I’m Jen Martin-Cutler, proud mom to Clark, my handsome ginger son diagnosed with  Pelizaeus-Merzbacher Disease (PMD) in December 2015 at 11 months old. Clark’s leukodystrophy journey began with challenges like delayed milestones, difficulty swallowing, and nystagmus, leading us to specialists at Lurie Children’s Hospital. His care team included experts in genetics, pulmonology, neurology, ENT, and a …

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Vanishing White Matter Disease in Children: An Unusual Association, a Novel Mutation, and a Literature Review

Research / December 18, 2024

The article “Vanishing White Matter Disease in Children: An Unusual Association, a Novel Mutation, and a Literature Review” explores Vanishing White Matter Disease (VWMD), a rare genetic disorder that affects the brain’s white matter. This study presents a case involving a novel genetic mutation, contributing to the understanding of the disease’s complexity. VWMD is caused …

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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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Living with ALD: A Journey of Strength and Community

Share Your Story / November 27, 2024

My name is Margaret Halter. My husband, John, was diagnosed with Adrenoleukodystrophy (ALD)/Adrenomyeloneuropathy (AMN) in 1989 at the age of 31. We’ve been married for 41 years, live on a beautiful farm in Ohio,  and have two children, a daughter and a son, both with families of their own. Our daughter is a carrier with no …

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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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Minoxry Therapeutics: Leriglitazone has met the primary endpoint in NEXUS, the pivotal trial for pediatric patients with cALD

Clinical Trials, News / December 13, 2024

Press Release Summary (December 11, 2024): Minoryx Therapeutics, a late-stage biotech company, and Neuraxpharm Group, a European specialty pharmaceutical firm, announced positive outcomes from the NEXUS trial, a pivotal 96-week study evaluating leriglitazone in pediatric patients with cerebral Adrenoleukodystrophy (cALD). The trial demonstrated a significant 35% arrest of disease progression in treated patients, compared to …

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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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A Special Year-End Message from Dr. Mousumi Bose

Share Your Story / December 9, 2024

My name is Mousumi Bose, and I am the mother of Ilan Betzer. Ilan was born in August 2010 and was soon diagnosed with Zellweger spectrum disorder, a rare peroxisomal disorder that is categorized as a leukodystrophy. As his disease progressed, our journey with Ilan was marked by complex challenges. Ilan passed away just after his first …

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Help Us Bring Hope to Families Like Isabella’s This Holiday Season

Share Your Story / November 27, 2024

I’m the aunt of my beautiful niece, Isabella, who was diagnosed with Vanishing White Matter (VWM) Disease at age four in 2009. Isabella’s joyful spirit and incredible courage inspire me to be the best I can be. She faces the challenges of this devastating condition with a smile that never fades, and she brings happiness …

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