Latest News

Leigh syndrome https://pmc.ncbi.nlm.nih.gov/articles/PMC12907114 Leigh syndrome is a severe childhood brain disorder caused by faulty mitochondria, the parts of cells that produce energy. When the brain cannot make enough energy, children can develop brain lesions, movement problems, and life-threatening complications. One common cause is a defect in Complex I, a key step in the energy-producing process. […]

Leigh syndrome https://link.springer.com/article/10.1038/s44321-025-00367-4 Leigh syndrome is a rare and serious childhood condition caused by problems in the mitochondria, the tiny structures that give our cells energy. When the brain does not get enough energy, children can lose important skills like walking or talking. Doctors have also noticed that many children show early developmental delays even […]

Alexander Disease (AxD) https://onlinelibrary.wiley.com/doi/10.1002/acn3.70305 Alexander disease (AxD) is a rare genetic disorder that affects the brain and spinal cord. It is caused by changes in the GFAP gene, which leads to an abnormal build-up of a protein called glial fibrillary acidic protein (GFAP) in brain cells known as astrocytes. These cells normally support and protect […]

Aicardi Goutières Syndrome (AGS) https://elifesciences.org/articles/102900 Microglia are the resident immune cells of the brain and spinal cord. They play essential roles in brain development, maintenance, and responses to injury or disease. However, studying microglia in the laboratory is difficult because they rapidly lose their identity outside the brain and are challenging to genetically manipulate. This […]

Adrenoleukodystrophy (ALD) https://www.cell.com/iscience/fulltext/S2589-0042(25)02600-8 This study investigates how lipid metabolism changes during early human nervous system development and how these processes are disrupted in the rare genetic disorder X-linked adrenoleukodystrophy (ALD). Lipids are essential molecules in the brain and spinal cord, forming cell membranes, supporting neuronal signalling, and maintaining myelin. ALD is caused by mutations in […]

Adrenoleukodystrophy (ALD) https://pmc.ncbi.nlm.nih.gov/articles/PMC12886174 X-linked adrenoleukodystrophy (ALD) is an inherited neurometabolic disorder caused by pathogenic variants in the ABCD1 gene. The gene encodes the peroxisomal transporter ALDP, which is required for the degradation of very-long-chain fatty acids (VLCFAs). Loss of ALDP function leads to VLCFA accumulation in tissues such as the adrenal cortex, spinal cord, and […]

Alexander Disease (AxD) https://ir.ionis.com/news-releases/news-release-details/ionis-announces-zilganersen-new-drug-application-alexander The U.S. Food and Drug Administration (FDA) has accepted Ioni’s New Drug Application (NDA) for zilganersen, the investigational treatment for Alexander Disease for Priority Review. The acceptance of the NDA is the critical first step in the FDA review process. The FDA will now begin a thorough review of the application. Priority Review […]

Research summary of recent leukodystrophy research and clinical trials, includes article summaries and direct links to websites and articles. To access the summary: Research Summary – March 2026 Please be aware these summaries are produced voluntarily by Biomedical Science students and are their interpretations of the information and findings. This information is reviewed by our […]

Mitochondrial disease https://cdn.prod.website-files.com/6324f3c1cd40a857e0ea27a4/69780ca6e83119ff5fad40f1_TTI%20NR%20260123%20Thio%20-%20MELAS%20Mitocon%20Prst%20.pdf

GM1 and GM2 gangliosidoses https://www.azafaros.com/news/azafaros-announces-key-scientific-oral-and-poster-presentations-on-nizubaglustat-accepted-for-worldsymposium-2026/l261c14?_gl=1*c081jt*_up*MQ..*_ga*MTAxODA4NjIwNy4xNzcxNDQwOTQ0*_ga_TSKRP1W66D*czE3NzE0NDA5NDMkbzEkZzAkdDE3NzE0NDA5NDMkajYwJGwwJGgyMDM0NDM4Njgx

Adult onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)/CSF1R related leukoencephalopathy https://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mds.70192 Colony-stimulating factor 1 receptor–related disorder (CSF1R‑RD) is a rare and fast‑progressing brain disease caused by harmful changes in the CSF1R gene. People with this condition can develop a wide range of symptoms, including movement problems, cognitive decline, and behavioural changes. Symptoms usually begin in the […]

Adult onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)/CSF1R related leukoencephalopathy https://onlinelibrary.wiley.com/doi/10.1002/acn3.70250 Colony-stimulating factor 1 receptor–related disorder (CSF1R-RD) is a rare inherited neurodegenerative disease caused by changes in the CSF1R gene, which is essential for the health of microglia. People with CSF1R-RD typically develop progressive problems with thinking, behaviour, and movement in mid-adulthood, and the disease advances […]