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Progress Report: 3rd Gen Oligonucleotide Targeting DUX4 in Mouse Model

Yi-Wen Chen DMV PhD provides an update on investigating 3rd generation oligonucleotides.
by Yi-Wen Chen See grant: Investigation of a third generation oligonucleotide targeting DUX4 using a new mouse model of FSHD Updated 14-Feb-2018 (added more comprehensive informat… http://fshfriends.org/blog/progress-report-3rd-gen-oligonucleotide-targeting-dux4-mouse-model/

Progress Report: Utilization of cell-free DNA as a biomarker

Initial progress report provided by Premi Haynes PhD.
by Premi Haynes See grant: Utilization of cell-free DNA (cfDNA) as a sensitive biomarker for clinical trial end point for individuals with FSHD Cell free DNA (cfDNA) are pieces… http://fshfriends.org/blog/progress-report-utilization-cell-free-dna-biomarker/

Progress Report: Defining the role of post-translational modification on FSHD protein DUX4

Jocelyn Eidahl, Post-Doctoral Scientist at Nationwide Children’s Hospital provides a progress update.
Update by Jocelyn O Eidahl PhD. Aim 1: To define a subset of DUX4 post-translational modifications (PTMs) from affected models. We have finalized our list of DUX4 PTMs found… http://fshfriends.org/blog/progress-report-defining-role-post-translational-modification-fshd-protein-dux4/

Progress Report: Histochemical and morphometric analysis of FSHD biceps

Final progress report from Dr. Wagner.
Update by Dr. Kathryn Wagner. This is a proposal to study the histopathological features of muscle in a large biobank from FSHD patients and their first degree family members. … http://fshfriends.org/blog/progress-report-histochemical-and-morphometric-analysis-fshd-biceps1/

Progress Report: Xenograft Mouse Model

Dr. Bloch provides a brief update of his progress on a xenograft mouse model.
by Robert J Bloch PhD See grant: A Xenograft Model of FSHD for Testing Therapeutics We have been making good progress in our development of methods to generate pure, functiona… http://fshfriends.org/blog/progress-report-xenograft-mouse-model/

Progress Report: Histochemical and morphometric analysis of FSHD biceps

Update from Dr. Wagner regarding her study ofthe histopathological features of FSHD affected muscle.
Update by Dr. Kathryn Wagner. This is a proposal to study the histopathological features of muscle in a large biobank from FSHD patients and their first degree family members. … http://fshfriends.org/blog/progress-report-histochemical-and-morphometric-analysis-fshd-biceps/

Progress Report: Clinical Study using MRI to measure immune response

Dr. Wang provides a progress report on his clinical study.
I think that this progress report exemplifies the trials and tribulations that all researchers go through in putting together a human clinical study. A lot of regulatory bodies, e… http://fshfriends.org/blog/progress-report-clinical-study-using-mri-measure-immune-response/

Progress Report: Optimizing the Utility of the National Registry for FSHD Research and Trial Recruitment

Progress report from Dr. Tawil on making the National Registry more useful for research by providing genetic testing.
Aims: The aim of the present proposal is to offer present and future National FSHD Registry participants, who have not been genetically confirmed, the chance to get detailed genet… http://fshfriends.org/blog/progress-report-optimizing-utility-national-registry-fshd-research-and-trial-recruitment/

Progress Report: Structural studies of DUX4-DNA interaction

Hideki Aihara PhD provides an update on his research into the structure of the Dux4 homeodomains in complex with DNA.
by Hideki Aihara PhD See grant Structural studies of DUX4-DNA interaction The aims for this research are to both determine the structure of DUX4 homeodomains-DNA complex using … http://fshfriends.org/blog/progress-report-structural-studies-dux4-dna-interaction/

Progress Report: FSHD myofibers cultured from human xenografts

Dr. Robert Bloch provides an update on his research into xenografting.
by Robert J Bloch PhD See grant: FSHD myofibers cultured from human xenografts Our research is devoted to creating mice that have human skeletal muscles, and then using them to… http://fshfriends.org/blog/progress-report-fshd-myofibers-cultured-human-xenografts/

Progress Report: Xenotransplanation of Human Muscle

Update from Dr. Maura Parker on optimizing expansion of human muscle stem cells for transplant into mice.
Maura H Parker PhD The long-term goal of my work is to expand human muscle progenitor cells in culture, and transplant these cells into a mouse muscle in order to replace that … http://fshfriends.org/blog/progress-report-xenotransplanation-human-muscle/

Progress Report: RNA-mediaed Epigenetic Silencing of D4Z4 repeats

Update by Jong Won Lim, postdoctoral fellow.
Final Report for grant: RNA-mediated Epigenetic Silencing of D4Z4 repeats: Implications for targeted therapy for FSHD Jong Won Lim, postdoctoral fellow Mentors: Galina Filip… http://fshfriends.org/blog/progress-report-rna-mediaed-epigenetic-silencing-d4z4-repeats/

Progress Report: Targeting DUX4 in the 4qD4Z4 repeat array in FSHD

Jong Won Lim, postdoctoral fellow, provides an update on his fellowship.
by Jong Won Lim, postdoctoral fellow Mentors: Galina Filippova, PhD and Stephen Tapscott, MD, PhD See grant Targeting Epigenetic Silencing of the 4qD4Z4 repeat array in FSHD My… http://fshfriends.org/blog/progress-report-targeting-dux4-4qd4z4-repeat-array-fshd/

Progress Report: Targeting Epigenetic Silencing of the 4qD4Z4 repeat array in FSHD

Jong Won Lim, postdoctoral fellow, provides an update on his fellowship.
by Jong Won Lim, postdoctoral fellow Mentors: Galina Filippova, PhD and Stephen Tapscott, MD, PhD See grant Targeting Epigenetic Silencing of the 4qD4Z4 repeat array in FSHD My… http://fshfriends.org/blog/progress-report-targeting-epigenetic-silencing-4qd4z4-repeat-array-fshd/

Progress Report: Targeting Epigenetic Silencing of the 4qD4Z4 repeat array in FSHD

Jong-Won Lim progress report.
by Jong Won Lim, postdoctoral fellow Mentors: Galina Filippova, PhD and Stephen Tapscott, MD, PhD See grant Targeting Epigenetic Silencing of the 4qD4Z4 repeat array in FSHD A. … http://fshfriends.org/blog/progress-report-targeting-epigene/

Progress Report: FSHD Related Defects in Human Myogenesis

Miller & Tapscott provide a first year summary of progress.
Miller-Tapscott First Year Summary of FSHD research progress. Gene expression profiling of cells from FSHD muscle biopsies suggests an intriguing hypothesis for the pathophysio… http://fshfriends.org/blog/progress-report-fshd-related-defects-human-myogenesis/