Funded projects by Institution (2017)
EB Research partnership is proud to fund cutting-edge research at some of the most prominent medical centers and universities in the world. Together with our Scientific Advisory Board we have the expertise to make wise philanthropic investments that advance our goal to find a cure for EB. Our esteemed partners are conducting some of the most exciting research in the field of EB. Below is a brief description of some of our projects:
Columbia University- Dr. Kimberly Morel leads a multi-center observational cross sector analysis of EB skin care practices and wound care isolates to ultimately improve skin care recommendations.
iPS Cell Consortium- Columbia University, along with Stanford University and University of Colorado Anschutz, joined together in 2016 in a unique collaboration that is often unheard of in American higher education. With the guidance and funding of EBRP Dr. Anthony Oro (of Stanford), Dr. Angela Christiano (of Columbia) and Dr. Dennis Roop (Of University of Colorado) have formed the iPS Cell Consortium. iPS stands for “induced pluripotent stem” cells whereby a patient’s cells are modified, reproduced and given back to the patient. Under this protocol, cells from an individual with EB will be modified using a non-viral gene editing method to produce iPS cells with a corrected gene encoding the collagen VII protein. These gene-corrected iPS cells can then be differentiated into other cells such as skin cells known as keratinocytes. These cells can then be given back to an individual with EB.
iPS Cell Consortium- Columbia University, along with Stanford University and University of Colorado Anschutz, joined together in 2016 in a unique collaboration that is often unheard of in American higher education. With the guidance and funding of EBRP Dr. Anthony Oro (of Stanford), Dr. Angela Christiano (of Columbia) and Dr. Dennis Roop (Of University of Colorado) have formed the iPS Cell Consortium. iPS stands for “induced pluripotent stem” cells whereby a patient’s cells are modified, reproduced and given back to the patient. Under this protocol, cells from an individual with EB will be modified using a non-viral gene editing method to produce iPS cells with a corrected gene encoding the collagen VII protein. These gene-corrected iPS cells can then be differentiated into other cells such as skin cells known as keratinocytes. These cells can then be given back to an individual with EB.
Hospital for Sick Children, Toronto- Dr. Pope is conducting a multi-year, multi-center retrospective cohort study to provide information on the current practice patterns of treating esophageal strictures and the feasibility of doing interventional studies either related to prevention or management of esophageal strictures. In addition to using data collected by EBCRC sites, the investigators will be using data from centers in the UK, Australia and other countries.
Immusoft Corporation/Stanford- Dr. Peter Marinkovich and colleagues lead research on cell reprogramming of autologous cells as treatment strategies for RDEB using Immune System Programming (ISPTM). Studies will advance an ISP cell product (a collagen VII-expressing plasmablast cell product for transient and/or sustained protein replacement therapy in vivo) to restore collagen VII and reverse RDEB progression. ISPTM a system used to produce autologous collagen VII expressing plasmablasts.
Stanford University/UC Davis - This multi-year project is a planned protein replacement therapy clinical trial. Type VII collagen is to be injected locally via intradermal injection into RDEB patients.
Laminin 332 for Junctional EB- The goal of this project is to determine the dosage and effect of L332 G for basement membrane skin incorporation, turnover rate, and blister formation in an animal model of Junctional Epidermolysis Bullosa.
Stanford/twoXAR Inc.- Dr. Joyce Tang will use a computational drug discovery platform to identify existing safe drugs that have the potential to treat the EB Simplex disease state.
Stanford Pruritus/Itch Clinical Trial - The drug Serlopitant has the potential to reduce itch (or pruritus). This study is intended to discover whether Serlopitant can be used safely in EB patients and at the same time reduce itch.
Stanford Suction Blister Device - Stanford is working on a prototype to test the strength of EB corrected skin.
iPS Cell Consortium- Stanford University, along with Columbia and University of Colorado Anschutz, joined together in 2016 in a unique collaboration that is often unheard of in American higher education. With the guidance and funding of EBRP Dr. Anthony Oro (of Stanford), Dr. Angela Christiano (of Columbia) and Dr. Dennis Roop (Of University of Colorado) have formed the iPS Cell Consortium. iPS stands for “induced pluripotent stem” cells whereby a patient’s cells are modified, reproduced and given back to the patient. Under this protocol, cells from an individual with EB will be modified using a non-viral gene editing method to produce iPS cells with a corrected gene encoding the collagen VII protein. These gene-corrected iPS cells can then be differentiated into other cells such as skin cells known as keratinocytes. These cells can then be given back to an individual with EB.
Stanford University/UC Davis - This multi-year project is a planned protein replacement therapy clinical trial. Type VII collagen is to be injected locally via intradermal injection into RDEB patients.
Laminin 332 for Junctional EB- The goal of this project is to determine the dosage and effect of L332 G for basement membrane skin incorporation, turnover rate, and blister formation in an animal model of Junctional Epidermolysis Bullosa.
Stanford/twoXAR Inc.- Dr. Joyce Tang will use a computational drug discovery platform to identify existing safe drugs that have the potential to treat the EB Simplex disease state.
Stanford Pruritus/Itch Clinical Trial - The drug Serlopitant has the potential to reduce itch (or pruritus). This study is intended to discover whether Serlopitant can be used safely in EB patients and at the same time reduce itch.
Stanford Suction Blister Device - Stanford is working on a prototype to test the strength of EB corrected skin.
iPS Cell Consortium- Stanford University, along with Columbia and University of Colorado Anschutz, joined together in 2016 in a unique collaboration that is often unheard of in American higher education. With the guidance and funding of EBRP Dr. Anthony Oro (of Stanford), Dr. Angela Christiano (of Columbia) and Dr. Dennis Roop (Of University of Colorado) have formed the iPS Cell Consortium. iPS stands for “induced pluripotent stem” cells whereby a patient’s cells are modified, reproduced and given back to the patient. Under this protocol, cells from an individual with EB will be modified using a non-viral gene editing method to produce iPS cells with a corrected gene encoding the collagen VII protein. These gene-corrected iPS cells can then be differentiated into other cells such as skin cells known as keratinocytes. These cells can then be given back to an individual with EB.
Tufts University- The goal of the project is to test the feasibility of using topically purified recombinant human collagen VII to treat corneal abrasions in RDEB
UCSF/Thomas Jefferson University- This study aims to better understand the evolution of skin cancer in RDEB skin to drive early detection and treatment approaches critical to improving clinical management. By sequencing 45 lesions adjacent to 15 SCC tumors the researchers aim to define the mutations that are critical for the progression of invasive cancers laying the groundwork for genetics-based early detection approaches.
Thomas Jefferson University- This study, led by Dr. Andrew South and Dr. Joseph Rosenbloom, will characterize a RDEB fibrosis and screen the U.S. drug collection for compounds which target fibrotic ECM deposition in RDEB.
Thomas Jefferson University- This study, led by Dr. Andrew South and Dr. Joseph Rosenbloom, will characterize a RDEB fibrosis and screen the U.S. drug collection for compounds which target fibrotic ECM deposition in RDEB.
University of Colorado- Dr. Dennis Roop and his team will generate a biorepository of induced pluripotent stem cells (iPSCs) generated from patients with EB.
iPS Cell Consortium- University of Colorado Anschutz, along with Columbia University and Stanford University, joined together in 2016 in a unique collaboration that is often unheard of in American higher education. With the guidance and funding of EBRP Dr. Anthony Oro (of Stanford), Dr. Angela Christiano (of Columbia) and Dr. Dennis Roop (Of University of Colorado) have formed the iPS Cell Consortium. iPS stands for “induced pluripotent stem” cells whereby a patient’s cells are modified, reproduced and given back to the patient. Under this protocol, cells from an individual with EB will be modified using a non-viral gene editing method to produce iPS cells with a corrected gene encoding the collagen VII protein. These gene-corrected iPS cells can then be differentiated into other cells such as skin cells known as keratinocytes. These cells can then be given back to an individual with EB.
iPS Cell Consortium- University of Colorado Anschutz, along with Columbia University and Stanford University, joined together in 2016 in a unique collaboration that is often unheard of in American higher education. With the guidance and funding of EBRP Dr. Anthony Oro (of Stanford), Dr. Angela Christiano (of Columbia) and Dr. Dennis Roop (Of University of Colorado) have formed the iPS Cell Consortium. iPS stands for “induced pluripotent stem” cells whereby a patient’s cells are modified, reproduced and given back to the patient. Under this protocol, cells from an individual with EB will be modified using a non-viral gene editing method to produce iPS cells with a corrected gene encoding the collagen VII protein. These gene-corrected iPS cells can then be differentiated into other cells such as skin cells known as keratinocytes. These cells can then be given back to an individual with EB.
Universite Laval Research Centre- This project will evaluate the feasibility of producing tissues as skin substitutes from autologous revertant keratinocytes obtained from dystrophic EB patients with spontaneously genetically corrected cells known as revertant mosaicism.
University of Minnesota- Dr. Jakub Tolar leads this project which focuses on two advanced gene-editing technologies: regional correction of Collagen VII and up-regulation of Collagen VII.
Seattle Children’s/UMN Gene Editing- Dr. David Rawlings (Seattle) and Dr. Jakub Tolar (UNM) partner together to develop an optimized foamy viral vector system for in vivo gene therapy to drive efficient expression of a Collagen VII gene to evaluate its application for gene therapy for RDEB.
Seattle Children’s/UMN Gene Editing- Dr. David Rawlings (Seattle) and Dr. Jakub Tolar (UNM) partner together to develop an optimized foamy viral vector system for in vivo gene therapy to drive efficient expression of a Collagen VII gene to evaluate its application for gene therapy for RDEB.
USC Gentamicin Trial for RDEB- Dr. Mei Chen and Dr. David Woodley evaluate the safety and efficacy of intravenous gentamicin treatment, a higher dose of topical treatment, and an intradermal application for “read-through” of RDEB in nonsense mutations. Read-through creates new collagen VII and anchoring fibrils at the dermal-epidermal junction.
USC Gentamicin Trial for JEB - Dr. Mei Chen and Dr. David Woodley will test whether aminoglycosides can induce PTC read-through and restore full-length laminin β3 in H-JEB cells with nonsense mutations. Successful execution of this study will provide a basis for future clinical trials with aminoglycosides for treating H-JEB patients harboring nonsense mutations.
USC Gentamicin Trial for JEB - Dr. Mei Chen and Dr. David Woodley will test whether aminoglycosides can induce PTC read-through and restore full-length laminin β3 in H-JEB cells with nonsense mutations. Successful execution of this study will provide a basis for future clinical trials with aminoglycosides for treating H-JEB patients harboring nonsense mutations.
