Posted by Terry Elsas Colella on Jun 18, 2018
2018 International Research Congress and Research Planning Meeting
Las Vegas, NV
June 8-9, 2018
Sponsored by The FSH Society
Rick and I attended the International Research Conference in Las Vegas on June 8th & 9th. Attending this meeting was very rewarding and invigorating after 15 years of hard work. It was exciting to meet with researchers Friends has funded in the past as well as those who were only recently awarded grants. Your investments with us are having an obvious impact in driving toward a cure. Only two years ago this conference had a completely different atmosphere. While there was certainly hope, there was not the energy and enthusiasm of actual tangible and obvious progress. I am truly able to state that your trust in Friends of FSH Research to invest your funds in the most promising research is paying off. Our Scientific Advisory Board (which recently gained three new members) typically remains in the background, evaluating, discussing, providing feedback and sometimes direct guidance, for researchers applying for grants. But without them, we really could not wisely invest your donations, and in turn, obtain the best return. Without them, the research community would not be where it is now.
One of our goals throughout the years has been not only to fund excellent proposals, but to enable new labs to be established that are focused on FSHD research. So it was quite exciting to see a proposal from Sujatha Jagannathan (Deciphering the role of aberrant protein synthesis in FSHD). Jagannathan was previously a postdoc in both the Tapscott and Bradley labs at Fred Hutch in Seattle, and now, as an Assistant Professor with her own lab at the University of Colorado, has focused on FSHD. And so your investments continue to pay off.
Details of all the numerous presentations is far too much for me to share with you here, but I will try to summarize some of the highlights from this conference. For those living with FSH, and their families, this is a time that should offer great hope!
To kick off the meeting, there were presentations regarding genetics, epigenetics and related syndromes which might offer new insight for those researching FSHD.
Presentations were made regarding the SMCHD1 mutations (first discovered by labs in Seattle and Leiden, supported by your investments) and its relationship to other syndromes (which may garner more FSHD research interest from groups focused on those other syndromes), FSHD1 and FSHD2 variants, and to mechanisms which regulate DUX4 & the D4Z4 microsatellite repeats.
To learn about the research of these presenters:
- Harrison Brand/Michael Talkowski - SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
- Payam Mohassel/Natalie Shaw - SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
- Natasha Jansz/Marnie Blewitt -
FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function - Karine Nguyen/Frederique Magdinier - Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy
- Richard Lemmers/Silvere van der Maarel - Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2
- Amy Campbell/Stephen Tapscott - NuRD and CAF-1-mediated silencing of the D4Z4 array is modulated by DUX4-induced MBD3L proteins
Presentations regarding the role of DUX4 in Development & Disease
To learn about the research of these presenters:
- Antoine de Morree/Thomas Rando - Transcriptional profiling of quiescent muscle stem cells in vivo
- Christopher Banerji/Peter Zammit - PAX7 target genes are globally repressed in facioscapulohumeral muscular dystrophy skeletal muscle
- Michael Kyba/ Hideki Aihara - The DUX4 homeodomains mediate inhibition of myogenesis and are functionally exchangeable with the Pax7 homeodomain
- Jocelyn Eidahl/Scott Harper - Regulation of facioscapulohumeral muscular dystrophy candidate protein DUX4
- Alex DeSimone/Charlie Emerson - C1QBP Inhibits DUX4-Dependent Gene Activation and Can Be Targeted with 4MU
- Virginie Mariot/Juliet Dumonceaux - Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches
- Nizar Saad/Scott Harper - Pre-clinical Safety and Off-Target Studies to Support Translation of AAV-Mediated RNAi Therapy for FSHD
Preclinical Studies FSHD – Cellular & animal models
To learn about the research of these presenters:
- Yi-Wen Chen/Lawrence Hayward - Biography & Publications
- Anita Van den Heuvel/Silvère van der Maarel - Monosomy 18p is a risk factor for facioscapulohumeral dystrophy
- Carlee Giesige/Scott Harper - Generation of a new, inducible model of FSHD that develops overt myopathic phenotypes
- Katelyn Daman/Charlie Emerson - Human skeletal muscle xenograft as a new preclinical model for muscle disorders
- Yi-Wen Chen/Toshifumi Yokota - FSH Canada Funded Research
Clinical Studies and Clinical Trials
To learn more about these studies and trials:
- Corinne Horlings/Baziel van Engelen - Adding quantitative muscle MRI to the FSHD clinical trial toolbox
- Sabina Sacconi/Silvere van der Maarel - Clinical features of facioscapulohumeral muscular dystrophy 2
- Johanna Hamel/Jeffery Statland - Electrical impedance myography in facioscapulohumeral muscular dystrophy: A 1-year follow-up study
- Victor Zhang/Cheng Zhang - Gene diagnosis of facioscapulohumeral muscular dystrophy
Industry aspects and therapy development
To learn more about these developments:
- Jeffrey Statland/Kenneth Attie - Preliminary Results from a Phase 2 Study to Evaluate ACE-083, a Local Muscle Therapeutic, in Patients with Facioscapulohumeral Muscular Dystrophy
- Alejandro Rojas/Angela Cacace - Pharmacological inhibition of DUX4 expression/Fulcrum Therapeuticsa
- Nicole Hupper/Brian Clarke - Protein kinase A activation inhibits DUX4 gene expression in myotubes from patients with facioscapulohumeral muscular dystrophy
- Joseph Cruz/Brian Clarke - Protein kinase A activation inhibits DUX4 gene expression in myotubes from patients with facioscapulohumeral muscular dystrophy/Novartis Institute
- Ngoc Lu-Nguyen/Linda Popplewell - Antisense targeting of 3′ end elements involved in DUX4 mRNA processing is an efficient therapeutic strategy for facioscapulohumeral dystrophy: a new gene-silencing approach
- Amanda Rickard - Genea Biocells Announces FDA Orphan Drug Designation for GBC0905 for the Treatment of Facioscapulohumeral Muscular Dystrophy (FSHD)
- Ryan Wuebbles - Researcher with FSHD Studies the Disorder to Help Others
- Chad Heatwole MD - STARFiSH: Study of Testosterone and rHGH in FSHD: A Proof-of-Concept Study
The discussions reaffirmed the importance of Registries, and developing bio-markers for future clinical studies. The role of MRI and Ultrasound tools were emphasized. The importance of participants having a genetic confirmation of FSHD is imperative to study participation.
Here are resources for those that wish more information about those topics:
- USA Registry - National Registry for DM and FSHD
- UK Registry - TREAT-NMD Neuromuscular Network
- Italian Registry - A National Italian Registry for FSHD
- Background re: importance of registries - Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry
- Clinical Trial Readiness - Clinical Trial Readiness to Solve Barriers to Drug Development in FSHD
- FSHD Info – Genetics Home Reference - NIH: Genetics Home Reference
- More information - NINDS (National Institute of Neurological Disorders and Stroke)
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