With the advent of the molecular biology revolution and the human genome project in the 1990s there was a historic shift toward target-based drug development. Target-based drug development, or TDD, relies on prior knowledge of disease mechanisms and targets before development can begin.
We created over 90 point mutations in the STXBP1 gene via CRISPR. A map of these point mutations can be seen above. Clinical variants were selected from the ClinVar database, literature, the Gnomad database, clinical researchers, and the STXBP1 foundation.
Our CSO, Dr. Chris Hopkins presented at DR. GPCR SUMMIT 2020 on why C. elegans is an ideal model to study the underlying principles of GPCRs.
Using zebrafish modeling in a rare human disease may be the perfect physiologic model to better understand the disease and generate more individualized therapeutic medical responses and positive outcomes for higher risk COVID-19 groups.
In an effort to create better models for epilepsy, we’ve been working on a grant-funded project to humanize important synaptic machinery by replacing endogenous coding sequences with human coding sequences. Syntaxin is a key synaptic protein, encoded by the gene STX1A, that helps synaptic vesicles dock, fuse with the membrane, and release neurotransmitters. Syntaxin has …
A View From the Bench: Roadblocks and Frustrations When Expectation Meets Reality. Read More »
While advances in molecular imaging, high-throughput screening, genomics and techniques like CRISPR-Cas9 gene editing have dramatically enhanced our understanding of the human body and disease, the pace of advancing new treatments for those diseases has lagged behind significantly. One way to shorten the time between laboratory discoveries and available new drugs is to use animal …
Zebrafish and C. elegans in ALS: tightening the bench-to-clinic gap Read More »
C. elegans as a model to evaluate the function of disease genes In 1998, the soil nematode Caenorhabditis elegans became the first multicellular organism of which the genome has been sequenced completely [1]. One surprising result of this approach was that ~65% of the human disease genes have a counterpart in the worm [2]. In …
CRISPR technologies enable humanized animal models to aid disease research Read More »
Ben Jusilla, one of our in-house zebrafish experts, presented his poster “Zebrafish modeling for the clinic: Rapid in vivo functional testing of patient variants for clinical applications” at ASHG and won the Reviewers’ Choice Award in the category of Precision Medicine, Pharmacogenomics, and Genetic Therapies. His poster discusses how we use zebrafish as an in-vivo model to measure …
