Filtered by Category: AxD Research
LATEST NEWS
AxD RESEARCHUnited Leukodystrophy Foundation Conference '23 - AxD Session Links
September 8, 2023
Hey Alexander Disease Community! We're excited to share some highlights from the recent United Leukodystrophy Foundation conference, where the latest advancements in Alexander disease research and treatments were shared. Here's a recap of the sessions you won't want to miss:1️⃣ Alexander Disease Insights 🧬Learn about the most recent research breakthroughs and ...
Webinar Recording Available Now: AAV-medicated Gene Silencing (August 2023)
September 7, 2023
If you weren't able to join us on Sunday, August 6, 2023 for Dr. Gao’s update regarding “AAV-mediated Gene Silencing for the Treatment of Alexander Disease” the recorded version of the webinar is now available! Watch Recording Here
End AxD funds gene therapy research for Alexander disease
April 2, 2023
The foundation End AxD, a nonprofit dedicated to research, treatment and a cure for Alexander disease, has donated $74,000 to UMass Chan Medical School to explore a gene therapy treatment for the fatal neurological disease.
Waisman Center: Alexander Disease
August 19, 2020
Alexander disease, a leukodystrophy, is a progressive and usually fatal neurological disorder in which the destruction of white matter in the brain is accompanied by the formation of abnormal deposits known as Rosenthal fibers. Rosenthal fibers are aggregations of protein that occur in astrocytes, which are cells that support the brain. These protein collections are ...
Rare Disease Database
August 19, 2020
SummaryAlexander disease is an extremely rare, usually progressive and fatal, neurological disorder. Initially it was detected most often during infancy or early childhood, but as better diagnostic tools have become available has been found to occur with similar frequency at all stages of life. Alexander disease has historically been included among the ...
Genetics Home Reference: Alexander Disease
August 17, 2020
Alexander disease is a rare disorder of the nervous system. It is one of a group of disorders, called leukodystrophies, that involve the destruction of myelin. Myelin is the fatty covering that insulates nerve fibers and promotes the rapid transmission of nerve impulses. If myelin is not properly maintained, the transmission of nerve impulses could be disrupted. ...
Alexander Disease (AxD) Natural History Research
August 11, 2020
The Leukodystrophy Center at Children’s Hospital of Philadelphia currently has two ongoing research studies exploring the natural history of Alexander disease (AxD). Individuals of any age diagnosed with Alexander disease are eligible to participate. The data obtained from both of these studies will be used for the design of future clinical trials.Study #1 ...
Towards genomic database of Alexander disease to identify variations modifying disease phenotype
October 14, 2019
AbstractAlexander disease (AxD) is an extremely rare neurodegenerative disorder caused by glial fibrillary acidic protein (GFAP) gene mutations. Compared with the cerebral type, which is characterized by infantile onset, the bulbospinal type and intermediate form are associated with a late onset, spanning from juveniles to the elderly, and more diverse clinical ...
Alexander Disease Information Page
March 27, 2019
Recent discoveries show that most individuals (approximately 90 percent) with Alexander disease have a mutation in the gene that makes glial fibrillary acidic protein (GFAP). GFAP is a normal component of the brain, but it is unclear how the mutations in this gene causes the disease. In most cases mutations occur spontaneously are not inherited from ...