Wellstone Center News and Events
Patients, families, and staff gather for a group photo during the 2023 Dystroglycanopathies Patient & Family Conference
Latest News
Campbell Keynote Lecture at the American Society of Gene and Cell Therapy meeting (May 2024)
https://www.cgtlive.com/view/campbell-challenges-gene-therapy-approaches-advanced-muscular-dystrophy
bioRxiv Latest Findings
bioRxiv is free online repository for scientific pre-prints which have not yet been peer-viewed. Posting research findings as pre-prints makes the information available to the muscular dystrophy community as soon as possible. Here are the latest research findings from the Campbell Laboratory:
New Publications
The Iowa Wellstone MDSRC is excited to share the latest research from Dr. Kevin Campbell's laboratory: N-terminal domain on dystroglycan enables LARGE1 to extend matriglycan on α-dystroglycan and prevents muscular dystrophy, published in eLife.
Awards and Lectures
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Dr. Steven Moore, Co-Director of the Iowa Wellstone MDSRC, was invited to give the 2022 Saul R. Korey Lectureship at the American Association of Neuropathologists (AANP) Annual Meeting. The Korey Lectureship was established in 1989 by Dr. Robert D. Terry, a pioneer in Alzheimer’s disease research, to honor Dr. Korey, the founder and first chair of the Department of Neurology at Albert Einstein College of Medicine. As described by Dr. Terry, the Korey Lectureship recognizes someone who has "been an active member of the Association...a working Neuropathologist...responsible for diagnostic work as well as teaching and research.” Or, as the AANP states, someone who has “done it all and done it well.” Dr. Moore's lecture was titled "Adventures in Muscular Dystrophy: the DGC, LAMA2, and Other Sticky Relationships." Dr. Moore was also awarded the AANP 2022 Award for Meritorious Contributions. Congratulations Dr. Moore!
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Dr. Katherine Mathews, who leads the clinical research project at the Iowa MDSRC, received the second annual "Pioneer for LGMD2i" award from the CureLGMD2i committee. The award was announced at the CureLGMD2i's 11th annual casino event, a fundraising event held with a virtual component on October 2, 2021. Lacey Woods, the first annual "Pioneer for LGMD2i" award recipient, created a video to present the award to Dr. Mathews, who also accepted the honor through a video shown at the event. Congratulations Dr. Mathews!
Recent Publications
Basic Science Research
Basic science research in Project 1 investigates the cellular and molecular mechanisms that underlie the dystroglycanopathies to provide a scientific foundation for the development of diagnostic and therapeutic strategies, as well as approaches to monitoring the efficacy of potential therapies.
- Identification of Matriglycan by Dual Exoglycosidase Digestion of α-Dystroglycan
- N-terminal domain on dystroglycan enables LARGE1 to extend matriglycan on α-dystroglycan and prevents muscular dystrophy
- Cell surface glycan engineering reveals that matriglycan alone can recapitulate dystroglycan binding and function
- Large1 Gene Transfer in Older myd Mice with Severe Muscular Dystrophy Restores Muscle Function and Greatly Improves Survival
- POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan
Clinical Research
Data collected from Wellstone study patients in Project 2 is analyzed and published in order to inform researchers and clinicians about disease progression and improve patient care.
- Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1
- A De Novo Sequence Variant in Barrier-to-Autointegration Factor Is Associated with Dominant Motor Neuronopathy
- Diagnostic delay in patients with FKRP-related muscular dystrophy
- Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related
- Motor outcome measures in patients with FKRP mutations, longitudinal follow-up
- The outcomes and experience of pregnancy in limb girdle muscular dystrophy type R9
Diagnostics Research
Diagnostics research draws on the broad spectrum of skeletal muscle biopsies available in Core B to investigate and develop novel diagnostic testing procedures for muscular dystrophy and to expand the toolbox of evaluation techniques for muscle biopsies and cell cultures from dystroglycanopathy patients.
- DUX4 double whammy: The transcription factor that causes a rare muscular dystrophy also kills the precursors of the human nose
- Development and Validation of a Western Blot Method to Quantify Mini-Dystrophin in Human Skeletal Muscle Biopsies
- Miyoshi Muscular Dystrophy Due to Novel Splice Site Variants in DYSF Gene
- Sphingosine Phosphate Lyase Is Upregulated in Duchenne Muscular Dystrophy, and Its Inhibition Early in Life Attenuates Inflammation and Dystrophy in Mdx Mice
- Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in FKRP Gene
- Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy
- The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies
- CLIA laboratory testing for facioscapulohumeral dystrophy: a retrospective analysis
- Validation of optical genome mapping for the molecular diagnosis of facioscapulohumeral muscular dystrophy
- Cross-sectional, neuromuscular phenotyping study of arhinia patients with SMCHD1 variants
- Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy
More Publications from Wellstone Center Investigators
Recent Invited Lectures and Talks by Wellstone Center Investigators
Dr. Kevin Campbell
2023
- Glycobiology Gordon Research Conference, Ventura, California
- Baylor College of Medicine Child Neurology Grand Rounds, Houston, Texas
- 7th International Workshop for Glycosylation Defects in Muscular Dystrophy, Charlotte, North Carolina
- Wash U Compass Fireside Chat, St. Louis, Missouri, Virtual
- Presidents Lecture Series at Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California
- Augusta University Lombard Kelly Lecture, Augusta, Georgia
- Society of Glycobiology Annual Meeting, Big Island, Hawaii
- University of Iowa Neurology Grand Rounds, Iowa City, Iowa
2022
- The 3rd ENMC Workshop on Dystroglycan and the Dystroglycanopathies, Hoofddorp, The Netherlands
- Scripps Molecular Medicine Seminar, San Diego, California
- International Conference on Muscle Wasting, Ascona, Switzerland
- University of Iowa Neuromuscular-Neurogenetics Symposium, Iowa City, Iowa
- University of Rochester Inaugural Paul LaCelle Lecture, Rochester, New York
2021
- Regeneron Seminar Series, Tarrytown, New York, Virtual
- Albert Einstein College of Medicine, Cell Biology Outside Speaker Seminar Series, Bronx, New York, Virtual
- San Diego Glycobiology Symposium, San Diego, California, Virtual
- ASBMB Herbert Tabor Award Lecture, San Diego, California, Virtual (Voted one of the "Most Favorited" sessions and presentations, Experimental Biology 2021 conference)
- Joint Glycobiology Meeting, Heidelberg, Germany, Virtual
- Tamio Yamakawa Award Lecture, Osaka, Japan, Virtual
Dr. Katherine Mathews
2023
- Treat NMD Masterclass, Virtual
- CureCMD Roundtable Presentation and Discussion, Virtual
- MDA Clinical and Scientific Conference, Dallas, Texas
- Parent Project Muscular Dystrophy Cardiac Workshop, New Orleans, Louisiana
- 7th International Workshop for Glycosylation Defects in Muscular Dystrophy, Charlotte, North Carolina
- Treat NMD Conference, London, United Kingdom
- Ottawa Neuromuscular Conference, Ottawa Canada
- Neuromuscular Study Group Annual Meeting, Orlando, Florida
- Solve FSHD Summit
2022
- FSHD Society, Virtual Webinar
- Patient Focused Drug Development Meeting with the FDA, organized by Coalition to Cure Calpain 3, Kurt + Peter Foundation, LGMD2D Foundation, The SPEAK Foundation, Cure LGMD2i, and the McColl-Lockwood Laboratory for Muscular Dystrophy Research
2021
- MDA Engage Pediatric Neuromuscular Seminar for Patients and Families, Virtual
- FSHD Masterclass, Virtual
Dr. Steven Moore
2023
- MDA Clinical and Scientific Conference, Dallas, Texas
2021
- 2021 Academy of Clinical Laboratory Physicians and Scientists (ACLPS) Meeting, Virtual