Alexander Disease Research Update

Abby Olsen, MD PhD

Guest appearance on:

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

Amanda Nagy, MD

Guest appearance on:

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

Amy Waldman, MD

Guest appearance on:

• Alexander Disease Research Update – Episode #30: 1) Speech-language impairments, and 2) GFAP concentrations in CSF and blood
• 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 #18: 1) Quantitative MRI in rat model, and 2) Developmental milestones in cerebral form of AxD
• Alexander Disease Research Update - Episode #13: MRI diffusion tractography - what can it tell us?
• Alexander Disease Research Update - Episode #8 - two case reports, natural history study of 21 pediatric patients, management of constipation
• 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 #2: tumor-like lesions; very-late onset

Annette Bley, MD

Guest appearance on:

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

Arastoo Vossough, MD PhD

Berit Powers, PhD

Guest appearance on:

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

Charles Wade, BMBS MRCP

Guest appearance on:

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

Davide Tonduti, MD PhD

Guest appearance on:

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

Debra Levin, MA CCC-SLP

Guest appearance on:

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

Dolores Pérez-Sala, PhD

Florian Eichler, MD

Guest appearance on:

• 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 #4 - case report, clinical trials

John-Paul Yu, MD PhD

Guest appearance on:

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

Josh Bonkowsky, MD PhD

Guest appearance on:

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

Mel Feany, MD PhD

Guest appearance on:

• Alexander Disease Research Update – Episode #27: Genotype-phenotype association for 14 GFAP variants
• Alexander Disease Research Update – Episode #25: GFAP Variants in the UK Biobank - estimated prevalence of adult-onset AxD
• Alexander Disease Research Update - Episode #9: new mechanisms of astrocyte dysfunction, case report with novel variant, commentary on head trauma as an aggravating factor

Michael Brenner, PhD

Guest appearance on:

• 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 #1: genetic anticipation?

Ming-Der Perng, PhD

Guest appearance on:

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

Murray Brilliant, PhD

Guest appearance on:

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

Nadia Kokaly, MD

Guest appearance on:

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

Natasha Snider, PhD

Guest appearance on:

• Alexander Disease Research Update – Episode #27: Genotype-phenotype association for 14 GFAP variants
• 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 #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 #19: Giant Axonal Neuropathy and Alexander Disease
• 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 #10: effects of variants in the rod domain on GFAP assembly and aggregation, new ideas about functions of intermediate filaments

Nick Stowe

Guest appearance on:

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

Nina Thomas, PhD ABPP-Cn

Guest appearance on:

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

Peter Todd, MD PhD

Rachel Battaglia, PhD

Guest appearance on:

• Alexander Disease Research Update - Episode #19: Giant Axonal Neuropathy and Alexander Disease
• 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 #6 - silent mutations, case report, new rat model, mouse proteomics
• Alexander Disease Research Update - Episode #3: crossing the blood-brain barrier

Rob Berman, PhD

Guest appearance on:

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

Tracy Hagemann, PhD

Guest appearance on:

• Alexander Disease Research Update - Episode #28: GDF15, nausea, vomiting, and "failure to thrive"
• Alexander Disease Research Update – Episode #26: Changes in gene expression and cognitive function in the rat model
• 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