Clinical Research: ATP1A3-Related Disorders’ Post

Did you know? Our study is recruiting patients w/ #ATP1A3 gene variants: https://buff.ly/3EN20Wz We aim to better identify characteristics associated w/ #RDP, #AHC & #CAPOS. We also aim to explore whether variants in the ATP1A3 gene are linked w/ dystonias & #ParkinsonsDisease.

ESR1 (EStrogen Receptor 1 gene) screen has been flagged in many publications as a new gene of intrest to screen for. Now possible on Nio™+, from either FFPE or cfDNA https://hubs.la/Q02cMHk10

Collagen plays an important role in giving structure to and strengthening the skin. Mutations in the COL7A1 gene cause both dominant and recessive forms of dystrophic epidermolysis bullosa. This gene provides instructions for making a protein that forms subunits of type VII collagen. Without it, skin is fragile and blisters easily. Learn more about #DEB: https://krys.bio/ya6  #DEB

One dose CRISPR therapy cuts cholesterol by up to 55% The first human trial of base editing delivered strong results along with some safety concerns. "VERVE-101, is designed to deactivate a gene in the liver that controls the production of PCSK9, a protein that regulates the amount of LDL in the blood. VERVE-101 permanently deactivates the PCSK9 gene in the liver by using CRISPR to change just one letter in its DNA. This technique is called “base editing,” and Verve’s trial is the first to test it in humans." https://lnkd.in/ePvEAv6M

Alleles, hybrids, genotypes, homozygosity, heterozygosity explained An allele is one of two, or more, forms of a given gene variant. For example, the ABO blood grouping is controlled by the ABO gene, which has six common alleles. Nearly every living human's phenotype for the ABO gene is some combination of just these six alleles. Youtube video: https://lnkd.in/dYBx8cGj #nikolaysgeneticslessons

Check out this blog post regarding our STAR-CRISPR offering!

How a Human Starch Gene and a Gut Bacterium are Connected Now scientists have identified a connection between variations in the number of copies of a gene, AMY1, which codes for an enzyme called amylase, and certain bacteria in the gut and mouth. The amylase enzyme acts in the saliva to break down starches. When people have many copies of the AMY1 gene, they tended to have a certain gut and mouth bacteria profile. https://lnkd.in/d_ETR8cT

A spinocerebellar ataxia subtype was identified via gene sequencing of a 5-generation Chinese family. CAG-repeat expansion was found within the THAP11 gene, leading to aggregation of THAP11 polyQ protein. https://loom.ly/n1kIw2o

Gene therapies have come a long way but the availability of popular delivery systems, such as AAV vector, limit their availability for patients.   🎥 In our latest edition of the #HowDoesItWork series, we explore TESSA Vectors. Curious to learn more? Watch below.   Follow along each week or subscribe to our YouTube channel: https://lnkd.in/gFhuuPDP    #STEM #GeneTherapy #Innovation #Biotechnology 

The Gene Pulser Xcell System is a flexible, modular electroporation system for transfecting every cell type from primary, suspension, and difficult-to-transfect cells, including T cells, to bacteria and fungi.