A5103221600- Amyotrophic Lateral Sclerosis Research
- Retinal Development and Disorders
- Retinal and Macular Surgery
- Pluripotent Stem Cells Research
- CRISPR and Genetic Engineering
- Prion Diseases and Protein Misfolding
- Genetics and Neurodevelopmental Disorders
- Statistical Methods in Clinical Trials
- Muscle Physiology and Disorders
- Adenosine and Purinergic Signaling
- Biotin and Related Studies
- Glaucoma and retinal disorders
- Neurogenetic and Muscular Disorders Research
Gladstone Institutes
2022-2024
University of California, San Francisco
2022-2024
University Memory and Aging Center
2024
Star Center
2020
University of Pennsylvania
2018
Efforts to genetically reverse C9orf72 pathology have been hampered by our incomplete understanding of the regulation this complex locus. We generated five different genomic excisions at
Glaucoma is a group of progressive optic neuropathies that share common biological and clinical characteristics including irreversible changes to the nerve visual field loss caused by death retinal ganglion cells (RGCs). The RGCs manifests as characteristic cupping or degeneration, resulting in patients with Glaucoma. Published studies on vitro RGC differentiation from stem utilized classical signaling pathways mimicking development vivo. Although many strategies allowed for generation RGCs,...
Abstract A repeat expansion mutation in the C9orf72 gene is leading known genetic cause of FTD and ALS. The C9orf72- ALS/FTD field has been plagued by a lack reliable tools to monitor this genomic locus its RNA protein products. We have validated assays that quantify pathobiology at DNA, levels using knock-out human iPSC lines as controls. Here we show single-molecule sequencing can accurately measure faithfully report on changes what traditionally hard sequence region. This particular value...
Abstract CRISPR gene editing holds promise to cure or arrest genetic disease, if we can find and implement curative edits reliably, safely effectively. Expansion of a hexanucleotide repeat in C9orf72 is the leading known cause frontotemporal dementia (FTD) amyotrophic lateral sclerosis (ALS). We evaluated three approaches mutant for their ability correct pathology neurons derived from patient iPSCs: excision region, allele, regulatory region exon 1A. All normalized RNA abnormalities TDP-43...
This protocol describes how to conjugate antibodies and run the Meso Scale Discovery (MSD) Sandwich enzyme-linked immunosorbent assay (ELISA) on MSD GOLD 96-well Small Spot Streptavidin SECTOR Plates. is adapted from GOLD™ Plate Avidin Plates Quick Guide 1 SULFO-TAG NHS-Ester Conjugation 2 optimized for C9orf72 dipeptide repeat detection human iPSC derived neurons.
This protocol describes how to perform gene editing on human induced pluripotent stem cells (iPSCs) via ribonucleoprotein (RNP) and the isolate lines with desired excision. It nucleofection, single cell sorting FACS, genotyping, maintenance of throughout process. is optimized for spCas9.
Abstract Glaucoma is a group of progressive optic neuropathies that share common biological and clinical characteristics including irreversible changes to the nerve visual field loss caused by death retinal ganglion cells (RGCs). The RGCs manifests as characteristic cupping or degeneration, resulting in patients with Glaucoma. Published studies on vitro RGC differentiation from stem utilized classical signaling pathways mimicking development vivo . Although many strategies allowed for...