Alexander Disease Research Update – Episode #24: 1) iPS cell model with aberrant development and 2) unusual variant in GFAP affecting the eye
About this episode
Albee Messing and Natasha Snider discuss recent research on Alexander disease, focusing on iPS cell models and a novel GFAP variant.
Send us Fan Mail Albee Messing and Natasha Snider discuss the following recent publications: [01:04] Aberrant neurodevelopment in human iPS cell-derived models of Alexander disease Glia (2024) (in press) [16:46] A novel GFAP frameshift variant identified in a family with optico-retinal dysplasia and vision impairment Human Molecular Genetics (2024) (in press) Send your ques...
People in this episode
Host: Albee Messing
Guest: Natasha Snider
Topics covered
- Alexander disease
- iPS cell model
- GFAP variant
- neurodevelopment
- optico-retinal dysplasia
- vision impairment
Keywords
- Alexander disease
- iPS cells
- GFAP
- neurodevelopment
- vision impairment
- optico-retinal dysplasia
Mentioned in this episode
Books & works: Aberrant neurodevelopment in human iPS cell-derived models of Alexander disease Glia, A novel GFAP frameshift variant identified in a family with optico-retinal dysplasia and vision impairment Human Molecular Genetics
More episodes of Alexander Disease Research Update
- 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
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