A5052175949- Cystic Fibrosis Research Advances
- Genetics, Aging, and Longevity in Model Organisms
- Neonatal Respiratory Health Research
- CRISPR and Genetic Engineering
- Bacterial Genetics and Biotechnology
- RNA and protein synthesis mechanisms
- GDF15 and Related Biomarkers
- Energy Harvesting in Wireless Networks
- Infant Nutrition and Health
- Muscle Physiology and Disorders
- Tissue Engineering and Regenerative Medicine
- Wireless Body Area Networks
- RNA regulation and disease
- Advanced biosensing and bioanalysis techniques
- Respiratory viral infections research
Johns Hopkins University
2020-2024
Johns Hopkins Medicine
2020-2023
Cornell University
2018
Elucidating the functional consequence of molecular defects underlying genetic diseases enables appropriate design therapeutic options. Treatment cystic fibrosis (CF) is an exemplar this paradigm as development CFTR modulator therapies has allowed for targeted and effective treatment individuals harboring specific variants. However, mechanism these drugs limits effectiveness to particular classes variants that allow production protein. Thus, assessment individual imperative proper assignment...
Small molecule drugs known as modulators can treat ~90% of people with cystic fibrosis (CF), but do not work for premature termination codon variants such W1282X (c.3846G>A). Here we evaluated two gene editing strategies, Adenine Base Editing (ABE) to correct W1282X, and Homology-Independent Targeted Integration (HITI) a CFTR superexon comprising exons 23-27 (SE23-27) enable expression mRNA without W1282X. In Flp-In-293 cells stably expressing minigene bearing ABE corrected 24% alleles,...
Bone morphogenetic protein (BMP) signaling regulates many different developmental and homeostatic processes in metazoans. The BMP pathway is conserved
Genetic variants that introduce premature termination codons (PTCs) have remained difficult to therapeutically target due lack of protein product. Nonsense mediated mRNA decay (NMD) targets PTC-bearing transcripts reduce the potentially damaging effects truncated proteins. Readthrough compounds been tested on PTC-generating in attempt permit translation through a stop. However, readthrough not proved efficacious clinical setting stable mRNA. Here, we investigate N-terminal cystic fibrosis...
ABSTRACT Bone morphogenetic protein (BMP) signaling regulates many different developmental and homeostatic processes in metazoans. The BMP pathway is conserved Caenorhabditis elegans , known to regulate body size mesoderm development. We have identified the C. smoc-1 (Secreted MOdular Calcium binding protein-1) gene as a new player pathway. smoc-1(0) null mutants small size, while overexpression of led long increased expression RAD-SMAD reporter, suggesting that SMOC-1 acts positive...