J
Joachim Schwäble
Researcher at Goethe University Frankfurt
Publications - 13
Citations - 1108
Joachim Schwäble is an academic researcher from Goethe University Frankfurt. The author has contributed to research in topics: Genetic enhancement & Chronic granulomatous disease. The author has an hindex of 7, co-authored 13 publications receiving 1010 citations. Previous affiliations of Joachim Schwäble include Center for Cell and Gene Therapy.
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Journal ArticleDOI
Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease
Stefan Stein,Marion Ott,Stephan Schultze-Strasser,Anna Jauch,Barbara Burwinkel,Barbara Burwinkel,Andrea Kinner,Manfred Schmidt,Alwin Krämer,Joachim Schwäble,Hanno Glimm,Ulrike Koehl,Carolin Preiss,Claudia R. Ball,Hans Martin,Gudrun Göhring,Kerstin Schwarzwaelder,Wolf K. Hofmann,Kadin Karakaya,Sandrine Tchatchou,Sandrine Tchatchou,Rongxi Yang,Rongxi Yang,Petra Reinecke,Klaus Kühlcke,Brigitte Schlegelberger,Adrian J. Thrasher,Dieter Hoelzer,Reinhard Seger,Christof von Kalle,Manuel Grez +30 more
TL;DR: It is shown that forced overexpression of EVI1 in human cells disrupts normal centrosome duplication, linking EVI 1 activation to the development of genomic instability, monosomy 7 and clonal progression toward myelodysplasia.
Journal ArticleDOI
Gene therapy of chronic granulomatous disease: the engraftment dilemma.
Manuel Grez,Janine Reichenbach,Joachim Schwäble,Reinhard Seger,Mary C. Dinauer,Adrian J. Thrasher,Adrian J. Thrasher +6 more
TL;DR: This review summarizes the data from clinical trials for chronic granulomatous disease (CGD) and provides some insights into treatment options that may lead to a successful application of gene therapy for CGD.
Journal ArticleDOI
Hyperinflammation in patients with chronic granulomatous disease leads to impairment of hematopoietic stem cell functions
Maren Weisser,Uta M. Demel,Stefan Stein,Linping Chen-Wichmann,Fabien Touzot,Fabien Touzot,Giorgia Santilli,Stefanie Sujer,Christian Brendel,Ulrich Siler,Marina Cavazzana,Marina Cavazzana,Adrian J. Thrasher,Janine Reichenbach,Marieke A.G. Essers,Joachim Schwäble,Manuel Grez +16 more
TL;DR: Persistent chronic inflammation in patients with CGD is associated with hematopoietic proliferative stress, leading to a decrease in the functional activity of HSCs.
Journal ArticleDOI
Successful Combination of Sequential Gene Therapy and Rescue Allo-HSCT in Two Children with X-CGD - Importance of Timing
Ulrich Siler,Anna Paruzynski,Heidi Holtgreve-Grez,Elena Kuzmenko,Ulrike Koehl,E.D. Renner,Canan Alhan,Arjan A. van de Loosdrecht,Joachim Schwäble,Thomas Pfluger,Joelle Tchinda,Markus Schmugge,Anna Jauch,Sonja Naundorf,Klaus Kühlcke,Gundula Notheis,Tayfun Güngör,Christof von Kalle,Manfred Schmidt,Manuel Grez,Reinhard Seger,Janine Reichenbach +21 more
TL;DR: GT was essential for both children to survive and to clear therapy-refractory infections, and future GT with safer lentiviral self-inactivated (SIN) vectors may offer a therapeutic alternative for X-CGD patients suffering from life-threatening infections and lacking HLA-identical HSC donors.
Journal ArticleDOI
High Efficiency Gene Correction in Hematopoietic Cells by Donor-Template-Free CRISPR/Cas9 Genome Editing
Duran Sürün,Duran Sürün,Joachim Schwäble,Joachim Schwäble,Ana Tomasovic,Roy Ehling,Roy Ehling,Stefan Stein,Nina Kurrle,Harald von Melchner,Harald von Melchner,Frank Schnütgen,Frank Schnütgen +12 more
TL;DR: It is shown that frameshift mutations can be effectively repaired in hematopoietic cells by non-integrating lentiviral vectors carrying RNA-guided Cas9 endonucleases (RGNs), suggesting that up to a quarter of all patients suffering from monogenic blood disorders could benefit from gene therapy employing personalized, donor template-free RGNs.