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The\n                    <jats:italic toggle=\"yes\">RYR1-<\/jats:italic>\n                    RD phenotypes include congenital myopathies of different histotypes often with early-onset muscle weakness, feeding difficulties, and respiratory insufficiency of varying severity.\n                    <jats:italic toggle=\"yes\">RYR1<\/jats:italic>\n                    -RDs also include a group of episodic diseases such as exercise intolerance, exertional rhabdomyolysis, periodic paralysis, and malignant hyperthermia susceptibility. The RYR-1 Foundation hosted the second patient-led international research workshop focused on\n                    <jats:italic toggle=\"yes\">RYR1-<\/jats:italic>\n                    RDs which was held on July 23\n                    <jats:sup>rd<\/jats:sup>\n                    -24\n                    <jats:sup>th<\/jats:sup>\n                    , 2025 in Pittsburg, Pennsylvania, USA that included a group of affected individuals, clinicians, and researchers to review the current status of research, and to evaluate high-priority areas for future research to enable development of therapeutics with direct involvement of affected individuals in the design and topics of this workshop. Identified high-priority areas were organized into six sessions: 1) Diagnosis and Genetics of\n                    <jats:italic toggle=\"yes\">RYR1<\/jats:italic>\n                    -RDs, 2) Establishing Clinical Trial Readiness for\n                    <jats:italic toggle=\"yes\">RYR1<\/jats:italic>\n                    -RDs, 3) Novel Insights into RYR1 Pathophysiology, 4) Disease Models and Translational Studies in\n                    <jats:italic toggle=\"yes\">RYR1<\/jats:italic>\n                    -RD, 5) The Therapeutic Development Pipeline, and 6) Physical Therapy and Exercise in\n                    <jats:italic toggle=\"yes\">RYR1<\/jats:italic>\n                    -RDs. Several novel disease models and novel DNA- and RNA-directed therapies were discussed. To establish clinical trial readiness, prospective natural history studies to optimize outcome measures and biomarkers with exploration of imaging modalities and wearable sensors are ongoing. This article provides a cohesive summary of the presentations that encompasses basic research from structural biology and preclinical models to clinical trials, and novel therapeutic development strategies for\n                    <jats:italic toggle=\"yes\">RYR1<\/jats:italic>\n                    -RD as a comprehensive narrative for the neuromuscular and rare disease research audience.\n                  <\/jats:p>","DOI":"10.1177\/22143602261463646","type":"journal-article","created":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T20:01:12Z","timestamp":1792612872000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["<i>RYR1<\/i>\n                    -related diseases patient-led international research workshop: Novel perspectives, treatments and interventions"],"prefix":"10.1177","author":[{"given":"Pomi","family":"Yun","sequence":"first","affiliation":[{"name":"Johns Hopkins University School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4323-4507","authenticated-orcid":false,"given":"Lourdes","family":"Figueroa","sequence":"additional","affiliation":[{"name":"Rush University Medical Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chang Seok","family":"Lee","sequence":"additional","affiliation":[{"name":"Baylor College of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filip","family":"Van Petegem","sequence":"additional","affiliation":[{"name":"University of British Columbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicol C.","family":"Voermans","sequence":"additional","affiliation":[{"name":"Radboud University Medical Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert T.","family":"Dirksen","sequence":"additional","affiliation":[{"name":"University of Rochester Medical Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael F.","family":"Goldberg","sequence":"additional","affiliation":[{"name":"The RYR-1 Foundation"},{"name":"Allegheny Health Network"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L\u012bvija","family":"Medne","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Philadelphia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinson","family":"Paul","sequence":"additional","affiliation":[{"name":"The RYR-1 Foundation"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mair\u00e9ad","family":"Ryan","sequence":"additional","affiliation":[{"name":"The RYR-1 Foundation"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily","family":"Pedersen","sequence":"additional","affiliation":[{"name":"The RYR-1 Foundation"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna","family":"Lanner","sequence":"additional","affiliation":[{"name":"Karolinska Institutet"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5313-9514","authenticated-orcid":false,"given":"Payam","family":"Mohassel","sequence":"additional","affiliation":[{"name":"Johns Hopkins University School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,10,21]]},"reference":[{"key":"e_1_3_7_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22510"},{"key":"e_1_3_7_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2017.191"},{"key":"e_1_3_7_4_2","doi-asserted-by":"publisher","DOI":"10.3233\/JND-180376"},{"key":"e_1_3_7_5_2","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2021.761636"},{"key":"e_1_3_7_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10974-017-9470-z"},{"key":"e_1_3_7_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22326"},{"key":"e_1_3_7_8_2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-117"},{"key":"e_1_3_7_9_2","doi-asserted-by":"publisher","DOI":"10.1177\/0883073812436605"},{"key":"e_1_3_7_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38418"},{"key":"e_1_3_7_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2015.11.012"},{"issue":"1","key":"e_1_3_7_12_2","article-title":"IRDiRC: 1000 new rare diseases treatments by 2027, identifying and bringing forward strategic actions","volume":"1","author":"Hivert V","year":"2022","unstructured":"Hivert V, Jonker A, O'Connor D, et al. 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