Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy – meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America

Emma Rybalka; Hyung Jun Park; Atchayaram Nalini; Dipti Baskar; Kiran Polavarapu; Hacer Durmus; Yang Xia; Linlin Wan; Perry B. Shieh; Behzad Moghadaszadeh; Alan H. Beggs; David L. Mack; Alec S.T. Smith; Wendy Hanna-Rose; Hyder A. Jinnah; Cara A. Timpani; Min Shen; Jaymin Upadhyay; Jeffrey J. Brault; Matthew D. Hall; Naveen Baweja; Priyanka Kakkar

doi:10.1186/s13023-024-03429-x

Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy – meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America

Emma Rybalka
, Hyung Jun Park
, Atchayaram Nalini
, Dipti Baskar
, Kiran Polavarapu
, Hacer Durmus
, Yang Xia
, Linlin Wan
, Perry B. Shieh
, Behzad Moghadaszadeh
, Alan H. Beggs
, David L. Mack
, Alec S.T. Smith
, Wendy Hanna-Rose
, Hyder A. Jinnah
, Cara A. Timpani
, Min Shen
, Jaymin Upadhyay
, Jeffrey J. Brault
, Matthew D. Hall

Naveen Baweja, Priyanka Kakkar

Research output: Contribution to journal › Article › peer-review

9 Scopus citations

Abstract

The inaugural Clinical and Scientific Conference on Adenylosuccinate Synthetase 1 (ADSS1) myopathy was held on June 3, 2024, at the National Institutes of Health (NIH) National Center for Advancing Translational Sciences (NCATS) in Rockville, Maryland, USA. ADSS1 myopathy is an ultra-rare, inherited neuromuscular disease. Features of geographical patient clusters in South Korea, Japan, India and the United States of America were characterised and discussed. Pre-clinical animal and cell-based models were discussed, providing unique insight into disease pathogenesis. The biochemical pathogenesis was discussed, and potential therapeutic targets identified. Potential clinical and pre-clinical biomarkers were discussed. An ADSS1 myopathy consortium was established and a roadmap for therapeutic development created.

Original language	English (US)
Article number	438
Journal	Orphanet Journal of Rare Diseases
Volume	19
Issue number	1
DOIs	https://doi.org/10.1186/s13023-024-03429-x
State	Published - Dec 2024

All Science Journal Classification (ASJC) codes

Genetics(clinical)
Pharmacology (medical)

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10.1186/s13023-024-03429-x

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Rybalka, E., Park, H. J., Nalini, A., Baskar, D., Polavarapu, K., Durmus, H., Xia, Y., Wan, L., Shieh, P. B., Moghadaszadeh, B., Beggs, A. H., Mack, D. L., Smith, A. S. T., Hanna-Rose, W., Jinnah, H. A., Timpani, C. A., Shen, M., Upadhyay, J., Brault, J. J., ... Kakkar, P. (2024). Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy – meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America. Orphanet Journal of Rare Diseases, 19(1), Article 438. https://doi.org/10.1186/s13023-024-03429-x

Rybalka, Emma ; Park, Hyung Jun ; Nalini, Atchayaram et al. / Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy – meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America. In: Orphanet Journal of Rare Diseases. 2024 ; Vol. 19, No. 1.

@article{afa0df20c2894da6bf97ff9235fa0bff,

title = "Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy {\textendash} meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America",

abstract = "The inaugural Clinical and Scientific Conference on Adenylosuccinate Synthetase 1 (ADSS1) myopathy was held on June 3, 2024, at the National Institutes of Health (NIH) National Center for Advancing Translational Sciences (NCATS) in Rockville, Maryland, USA. ADSS1 myopathy is an ultra-rare, inherited neuromuscular disease. Features of geographical patient clusters in South Korea, Japan, India and the United States of America were characterised and discussed. Pre-clinical animal and cell-based models were discussed, providing unique insight into disease pathogenesis. The biochemical pathogenesis was discussed, and potential therapeutic targets identified. Potential clinical and pre-clinical biomarkers were discussed. An ADSS1 myopathy consortium was established and a roadmap for therapeutic development created.",

author = "Emma Rybalka and Park, \{Hyung Jun\} and Atchayaram Nalini and Dipti Baskar and Kiran Polavarapu and Hacer Durmus and Yang Xia and Linlin Wan and Shieh, \{Perry B.\} and Behzad Moghadaszadeh and Beggs, \{Alan H.\} and Mack, \{David L.\} and Smith, \{Alec S.T.\} and Wendy Hanna-Rose and Jinnah, \{Hyder A.\} and Timpani, \{Cara A.\} and Min Shen and Jaymin Upadhyay and Brault, \{Jeffrey J.\} and Hall, \{Matthew D.\} and Naveen Baweja and Priyanka Kakkar",

note = "Publisher Copyright: {\textcopyright} The Author(s) 2024.",

year = "2024",

month = dec,

doi = "10.1186/s13023-024-03429-x",

language = "English (US)",

volume = "19",

journal = "Orphanet Journal of Rare Diseases",

issn = "1750-1172",

publisher = "BioMed Central",

number = "1",

}

Rybalka, E, Park, HJ, Nalini, A, Baskar, D, Polavarapu, K, Durmus, H, Xia, Y, Wan, L, Shieh, PB, Moghadaszadeh, B, Beggs, AH, Mack, DL, Smith, AST, Hanna-Rose, W, Jinnah, HA, Timpani, CA, Shen, M, Upadhyay, J, Brault, JJ, Hall, MD, Baweja, N & Kakkar, P 2024, 'Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy – meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America', Orphanet Journal of Rare Diseases, vol. 19, no. 1, 438. https://doi.org/10.1186/s13023-024-03429-x

Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy – meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America. / Rybalka, Emma; Park, Hyung Jun; Nalini, Atchayaram et al.
In: Orphanet Journal of Rare Diseases, Vol. 19, No. 1, 438, 12.2024.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy – meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America

AU - Rybalka, Emma

AU - Park, Hyung Jun

AU - Nalini, Atchayaram

AU - Baskar, Dipti

AU - Polavarapu, Kiran

AU - Durmus, Hacer

AU - Xia, Yang

AU - Wan, Linlin

AU - Shieh, Perry B.

AU - Moghadaszadeh, Behzad

AU - Beggs, Alan H.

AU - Mack, David L.

AU - Smith, Alec S.T.

AU - Hanna-Rose, Wendy

AU - Jinnah, Hyder A.

AU - Timpani, Cara A.

AU - Shen, Min

AU - Upadhyay, Jaymin

AU - Brault, Jeffrey J.

AU - Hall, Matthew D.

AU - Baweja, Naveen

AU - Kakkar, Priyanka

PY - 2024/12

Y1 - 2024/12

N2 - The inaugural Clinical and Scientific Conference on Adenylosuccinate Synthetase 1 (ADSS1) myopathy was held on June 3, 2024, at the National Institutes of Health (NIH) National Center for Advancing Translational Sciences (NCATS) in Rockville, Maryland, USA. ADSS1 myopathy is an ultra-rare, inherited neuromuscular disease. Features of geographical patient clusters in South Korea, Japan, India and the United States of America were characterised and discussed. Pre-clinical animal and cell-based models were discussed, providing unique insight into disease pathogenesis. The biochemical pathogenesis was discussed, and potential therapeutic targets identified. Potential clinical and pre-clinical biomarkers were discussed. An ADSS1 myopathy consortium was established and a roadmap for therapeutic development created.

AB - The inaugural Clinical and Scientific Conference on Adenylosuccinate Synthetase 1 (ADSS1) myopathy was held on June 3, 2024, at the National Institutes of Health (NIH) National Center for Advancing Translational Sciences (NCATS) in Rockville, Maryland, USA. ADSS1 myopathy is an ultra-rare, inherited neuromuscular disease. Features of geographical patient clusters in South Korea, Japan, India and the United States of America were characterised and discussed. Pre-clinical animal and cell-based models were discussed, providing unique insight into disease pathogenesis. The biochemical pathogenesis was discussed, and potential therapeutic targets identified. Potential clinical and pre-clinical biomarkers were discussed. An ADSS1 myopathy consortium was established and a roadmap for therapeutic development created.

UR - https://www.scopus.com/pages/publications/85210447751

UR - https://www.scopus.com/pages/publications/85210447751#tab=citedBy

U2 - 10.1186/s13023-024-03429-x

DO - 10.1186/s13023-024-03429-x

M3 - Article

C2 - 39593137

AN - SCOPUS:85210447751

SN - 1750-1172

VL - 19

JO - Orphanet Journal of Rare Diseases

JF - Orphanet Journal of Rare Diseases

IS - 1

M1 - 438

ER -

Rybalka E, Park HJ, Nalini A, Baskar D, Polavarapu K, Durmus H et al. Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy – meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America. Orphanet Journal of Rare Diseases. 2024 Dec;19(1):438. doi: 10.1186/s13023-024-03429-x

Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy – meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America

Abstract

All Science Journal Classification (ASJC) codes

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