Author Interviews, Dermatology, Genetic Research / 22.05.2018

MedicalResearch.com Interview with: http://www.proqr.com/team-and-boards/Daniel de Boer Founding Chief Executive Officer ProQR MedicalResearch.com: What is the background for this study? Would you briefly explain what is meant by dystrophic epidermolysis bullosa? Response: Dystrophic epidermolysis bullosa (DEB) is caused by a mutation in the COL7A1 gene which is responsible for the formation of a protein called type VII collagen (C7). This protein helps bind the inner and outer layers of the skin together. Mutations in one part of COL7A1 gene, exon 73, are the most common cause of DEB resulting in a non-functional C7 protein. ProQR's QR-313 is designed to skip exon 73 of the COL7A1 gene, leading to a shortened C7 protein called C7Δ73. The current studies are intended to determine whether C7Δ73 functions the same as normal C7 protein. This mechanism can hopefully restore normal skin function for DEB patients. DEB is a rare genetic skin disease characterized by easy blistering of the skin, poorly healing wounds and skin infections. DEB is present at birth and in severe cases leads to skin cancer, which can significantly reduce a patient’s lifespan. There are currently no treatments for DEB that target the underlying cause of the disease. The current standard of care consists of expensive time-consuming wound care, antibiotics to prevent infection and pain medications. As a result, this disease presents a huge burden to the patients themselves, as well as people who help with daily care. (more…)
Author Interviews, Genetic Research, Nature, Scripps / 21.06.2017

MedicalResearch.com Interview with: Michael Farzan PhD Co-chair and Professor Department of Immunology and Microbiology Florida Campus The Scripps Research Institute Jupiter, Florida MedicalResearch.com: What is the background for this study? What are the main findings? Response: CRISPR is system for immune protection of bacteria.  It has now been widely adopted for use in editing mammalian cells.  The most commonly used CRISPR effector protein is Cas9.  Cas9 binds a guide RNA to recognize a DNA target, for example an incoming virus infecting a bacterium, or a gene in a human chromosome.  In bacteria, Cas9 requires a second protein to clear the guide RNA from a longer "CRISPR array", basically a string of guide RNAs. We have been studying a CRISPR effector protein related to Cas9 called Cpf1.  In bacteria it was know that, unlike Cas9, Cpf1 could cleave a CRISPR array by itself, without assistance from a second protein.  We knew that if it could do the same thing in human cells, it would help to simplify a number of gene-editing applications.  We were able to show that Cas9 could indeed excise multiple guide RNAs from a single message RNA in human cells.  We further showed that this approach was more efficient than the previous ways that guide RNAs were generated for gene editing, even more so when multiple guide RNAs were needed. (more…)