Unlocking the Mystery: How New Gene Data Sheds Light on Epilepsy
A deep dive into the world of gene variants, their significance, and the potential to transform our understanding of epilepsy. Setting the Stage: Understanding Gene
A deep dive into the world of gene variants, their significance, and the potential to transform our understanding of epilepsy. Setting the Stage: Understanding Gene
Summary: Thanks to the advances in CRISPR technology, the coming decades are poised to usher in the era of personalized medicine. While, on one hand,
Summary: Over the past decade there has been an explosion in people experiencing gastrointestinal issues, and, consequently, there has been increased interest in research looking
A Question One Might Ask: How do you make animal models more effective at drug discovery? One process, now made simple using CRISPR technologies, is
Summary: Humanization of druggable targets is an important tool for increasing drug translation to clinic. Current in vivo drug discovery platforms can be quite limited
Summary Rare diseases are just that: rare. However, when combined rare diseases affect 3.5% – 5.9% of the worldwide population, and present a growing healthcare
Summary The human microbiome is a booming area of research thanks to evidence showing that it could have far-reaching effects on our health. But how
What is the microbiome? How does it help or hinder health? And, what does recent research indicate? We’ve all had that regret: “oh, I should
Bottom line: Getting some SSSH! time with this split-hygR technique can calm the frustration of the aggravated C. elegans researcher.
We have found whole gene humanization can create a platform for highly translatable results in a model organism. Currently there is a big need for functional studies of Variants of Uncertain Significance (VUS).
Five months into the COVID-19 pandemic, the world is at 29,119,433 confirmed cases of SARS-Cov2 infection, including 925,965 deaths (6 August 2020 https://covid19.who.int/), which is
We take a look into why so many zebrafish groups struggle to achieve knock-in transgenesis and what makes knock-ins so difficult.
Our CSO explores a theory he has about the amino acid arginine which seems to be showing frequent association with pathogenicity.
Our CSO revisits his Veritas Genomic Sequencing report for a closer look at how significant some of the discovered variants are
When you receive your genomic report, you have a movement of trepidation.What will it say? Will it have something that says you should do countermeasures
There is a significant pressure to increase diagnostic yield and it has its consequences. BRCA testing is probably the most developed ecosystem for genetic tests
The Child Neurology Society honored William (Bill) Dobyns for his highly impactful efforts in characterizing child neurology. In a prolific and highly influential carrier, Bill
Genetic Testing Clinical geneticists have an acute need to understand pathogenicity in genomes of their patients (Figure 1). Cost per human genome has now approached
How to better understanding Variants of Uncertain Significance in epilepsy and help find new therapeutic approaches Did you know that 1 in 26 people will
Systems for Functional Studies A variety of modeling systems can be used to explore variant function. Initially, many researchers turn to a computational approach to
The philosopher Friedrich Nietzsche once said: “You have evolved from worm to man, but much within you is still worm.” Genetic diversity in individuals and
The passion to find answers is inspiring. I had the good fortune to attend the KCNQ2 Cure Summit 2018. Meeting the patient families and seeing
The philosopher Friedrich Nietzsche once said: “You have evolved from worm to man, but much within you is still worm.” Genetic diversity in individuals and
Epilepsy Genetics 1 out of 100 persons is living with active epilepsy (Zack and Kobau 2017, WHO 2018). For the subset that can be pinned
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