All Episodes

Alexander Disease Research Update – Episode #31: 1) Development of an AxD Severity Score, and 2) Peer review – please come home

Alexander Disease Research Update – Episode #30: 1) Speech-language impairments, and 2) GFAP concentrations in CSF and blood

Alexander Disease Research Update - Episode #29: Genotype-phenotype correlations, or does variant predict course?

Alexander Disease Research Update - Episode #28: GDF15, nausea, vomiting, and "failure to thrive"

Alexander Disease Research Update – Episode #27: Genotype-phenotype association for 14 GFAP variants

Alexander Disease Research Update – Episode #26: Changes in gene expression and cognitive function in the rat model

Alexander Disease Research Update – Episode #25: GFAP Variants in the UK Biobank - estimated prevalence of adult-onset AxD

Alexander Disease Research Update – Episode #24: 1) iPS cell model with aberrant development and 2) unusual variant in GFAP affecting the eye

Alexander Disease Research Update - Episode #23: Albee Messing's presentation at the recent conference in Philadelphia

Alexander Disease Research Update - Episode #22: 1) anesthesia and AxD, and 2) GFAP cross-linking to itself

Alexander Disease Research Update - Episode #21: 1) Blood levels of GFAP, neurofilaments, and tau, and 2) planning for in-person conference in Philadelphia this summer.

Alexander Disease Research Update - Episode #20: 3D bioprinting method for co-culture of neurons and astrocytes reveals new features of Alexander disease

Alexander Disease Research Update - Episode #19: Giant Axonal Neuropathy and Alexander Disease

Alexander Disease Research Update - Episode #18: 1) Quantitative MRI in rat model, and 2) Developmental milestones in cerebral form of AxD

Alexander Disease Research Update - Episode #17: 1) new iPS cell line, 2) acetylation and GFAP, and 3) STAT3 as a key regulator driving GFAP accumulation

Alexander Disease Research Update - Episode #16: Webinar - Guangping Gao lab

Alexander Disease Research Update - Episode #15: subclassifications of Type I; questions regarding 1) mesenchymal stem cells and 2) the intransasal route of delivery

Alexander Disease Research Update - Episode #14: whole exome/genome sequencing; more questions on the brainstem

Alexander Disease Research Update - Episode #13: MRI diffusion tractography - what can it tell us?

Alexander Disease Research Update - Episode #12: GFAP variants and oxidative stress/mitochondrial dysfunction; commentary on dizziness, risks of brain biopsies

Alexander Disease Research Update - Episode #11: neurology 101 (location, location, location), discussion on the autonomic nervous system

Alexander Disease Research Update - Episode #10: effects of variants in the rod domain on GFAP assembly and aggregation, new ideas about functions of intermediate filaments

Alexander Disease Research Update - Episode #9: new mechanisms of astrocyte dysfunction, case report with novel variant, commentary on head trauma as an aggravating factor

Alexander Disease Research Update - Episode #8 - two case reports, natural history study of 21 pediatric patients, management of constipation

Alexander Disease Research Update - Episode #7 - common drugs tested in cell culture model; germline mosaicism vs de novo variants; electronic health records in research

Alexander Disease Research Update - Episode #6 - silent mutations, case report, new rat model, mouse proteomics

Alexander Disease Research Update - Episode #5 - case report with silent mutation and area postrema syndrome; neuropsychological testing

Alexander Disease Research Update - Episode #4 - case report, clinical trials

Alexander Disease Research Update - Episode #3: crossing the blood-brain barrier

Alexander Disease Research Update - Episode #2: tumor-like lesions; very-late onset

Alexander Disease Research Update - Episode #1: genetic anticipation?