The 2019 and 2021 International Workshops on Alport Syndrome

Sergio Daga; Jie Ding; Constantinos Deltas; Judy Savige; Beata S. Lipska-Ziętkiewicz; Julia Hoefele; Frances Flinter; Daniel P. Gale; Marina Aksenova; Hirofumi Kai; Laura Perin; Moumita Barua; Roser Torra; Jeff H. Miner; Laura Massella; Danica Galešić Ljubanović; Rachel Lennon; Andrè B. Weinstock; Bertrand Knebelmann; Agne Cerkauskaite; Susie Gear; Oliver Gross; A. Neil Turner; Margherita Baldassarri; Anna Maria Pinto; Alessandra Renieri

doi:10.1038/s41431-022-01075-0

The 2019 and 2021 International Workshops on Alport Syndrome

Sergio Daga, Jie Ding, Constantinos Deltas, Judy Savige, Beata S. Lipska-Ziętkiewicz, Julia Hoefele, Frances Flinter, Daniel P. Gale, Marina Aksenova, Hirofumi Kai, Laura Perin, Moumita Barua, Roser Torra, Jeff H. Miner, Laura Massella, Danica Galešić Ljubanović, Rachel Lennon, Andrè B. Weinstock, Bertrand Knebelmann, Agne CerkauskaiteSusie Gear, Oliver Gross, A. Neil Turner, Margherita Baldassarri, Anna Maria Pinto, Alessandra Renieri

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Original language	English
Pages (from-to)	507-516
Number of pages	10
Journal	European Journal of Human Genetics
Volume	30
Issue number	5
DOIs	https://doi.org/10.1038/s41431-022-01075-0
State	Published - May 2022

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10.1038/s41431-022-01075-0

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Daga, S., Ding, J., Deltas, C., Savige, J., Lipska-Ziętkiewicz, B. S., Hoefele, J., Flinter, F., Gale, D. P., Aksenova, M., Kai, H., Perin, L., Barua, M., Torra, R., Miner, J. H., Massella, L., Ljubanović, D. G., Lennon, R., Weinstock, A. B., Knebelmann, B., ... Renieri, A. (2022). The 2019 and 2021 International Workshops on Alport Syndrome. European Journal of Human Genetics, 30(5), 507-516. https://doi.org/10.1038/s41431-022-01075-0

@article{460b56bb386c4a18b2f16a73edaca505,

title = "The 2019 and 2021 International Workshops on Alport Syndrome",

author = "Sergio Daga and Jie Ding and Constantinos Deltas and Judy Savige and Lipska-Zi{\c e}tkiewicz, {Beata S.} and Julia Hoefele and Frances Flinter and Gale, {Daniel P.} and Marina Aksenova and Hirofumi Kai and Laura Perin and Moumita Barua and Roser Torra and Miner, {Jeff H.} and Laura Massella and Ljubanovi{\'c}, {Danica Gale{\v s}i{\'c}} and Rachel Lennon and Weinstock, {Andr{\`e} B.} and Bertrand Knebelmann and Agne Cerkauskaite and Susie Gear and Oliver Gross and Turner, {A. Neil} and Margherita Baldassarri and Pinto, {Anna Maria} and Alessandra Renieri",

note = "Funding Information: AR from the University of Siena received a financial support from ATS Foundation within the project—AAV2-CRISPR/Cas9 preclinical trial on a naturally occurring ATS dog model‖, TRAVERE Therapeutics Inc. within the project—From benchtop to preclinical trials. CRISPR/Cas9 to correct COL4A5 mutations causing Alport Syndrome in in vitro and in vivo dog and mouse model (protocol number: 46630) and Tuscany Region within the project—Progetto NIKE_Bando FAS SALUTE Regione Toscana 2018. Work presented by CD and colleagues was funded partly by the Alport Syndrome Foundation Inc. (ASF), Pedersen Family and the Kidney Foundation of Canada (KFOC) Funding Programme, EU{\textquoteright}S HORIZON 2020 Research and Innovation Programme under Grant Agreement No. 857122, the Republic of Cyprus, and the University of Cyprus and by the—ChapERalport‖ POST-DOC/0916/0190 programme by the Cyprus Research and Innovation Foundation. RT research is funded by the Instituto de Salud Carlos III/Fondo Europeo de Desarrollo Regional (FEDER) funds, RETIC REDINREN RD16/0009 FIS FEDER FUNDS (PI15/01824, PI18/00362) and Marat{\'o} TV3. DGL from the University of Zagreb School of Medicine received a financial support from Croatian Science Foundation within the project Genotype-phenotype correlation in Alport syndrome and thin glomerular basement membrane nephropathy (IP- 2014-09-2151). LP from the University of Southern California received a financial support from National Institutes of Health (NIH) (1R01DK123234). Funding Information: The organisers thank the Alport UK and Alport Syndrome Foundation for their support. We thank Kirstie and Laura of Endless Possibilities for the graphical documentation of the proceedings. The International Workshop 2019 conference centre Palazzo del Rettorato was provided free of charge by the University of Siena. The Workshop was made possible by the generous support of Alport UK, SANOFI, REATA Pharmaceutical as Event Sponsor and TRAVERE Therapeutics and Alport Syndrome Alliance as Education Sponsor. We thank all the patients association, Alport Foundation of Australia, Alport Syndrome.ca, Alport Syndrome Parent Association (China), AIRG—France, Alport Support Group (Germany), Israel Alport Foundation (IAF), Alport Syndrome Macedonia, Action for Alport (UK), Alport UK, Alport Syndrome Foundation (USA) and ASAL ONLUS (Italy). We like to acknowledge all the individuals that attended from around the world and contributed in making the Workshop a success.",

year = "2022",

month = may,

doi = "10.1038/s41431-022-01075-0",

language = "English",

volume = "30",

pages = "507--516",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

number = "5",

}

Daga, S, Ding, J, Deltas, C, Savige, J, Lipska-Ziętkiewicz, BS, Hoefele, J, Flinter, F, Gale, DP, Aksenova, M, Kai, H, Perin, L, Barua, M, Torra, R, Miner, JH, Massella, L, Ljubanović, DG, Lennon, R, Weinstock, AB, Knebelmann, B, Cerkauskaite, A, Gear, S, Gross, O, Turner, AN, Baldassarri, M, Pinto, AM & Renieri, A 2022, 'The 2019 and 2021 International Workshops on Alport Syndrome', European Journal of Human Genetics, vol. 30, no. 5, pp. 507-516. https://doi.org/10.1038/s41431-022-01075-0

TY - JOUR

T1 - The 2019 and 2021 International Workshops on Alport Syndrome

AU - Daga, Sergio

AU - Ding, Jie

AU - Deltas, Constantinos

AU - Savige, Judy

AU - Lipska-Ziętkiewicz, Beata S.

AU - Hoefele, Julia

AU - Flinter, Frances

AU - Gale, Daniel P.

AU - Aksenova, Marina

AU - Kai, Hirofumi

AU - Perin, Laura

AU - Barua, Moumita

AU - Torra, Roser

AU - Miner, Jeff H.

AU - Massella, Laura

AU - Ljubanović, Danica Galešić

AU - Lennon, Rachel

AU - Weinstock, Andrè B.

AU - Knebelmann, Bertrand

AU - Cerkauskaite, Agne

AU - Gear, Susie

AU - Gross, Oliver

AU - Turner, A. Neil

AU - Baldassarri, Margherita

AU - Pinto, Anna Maria

AU - Renieri, Alessandra

N1 - Funding Information: AR from the University of Siena received a financial support from ATS Foundation within the project—AAV2-CRISPR/Cas9 preclinical trial on a naturally occurring ATS dog model‖, TRAVERE Therapeutics Inc. within the project—From benchtop to preclinical trials. CRISPR/Cas9 to correct COL4A5 mutations causing Alport Syndrome in in vitro and in vivo dog and mouse model (protocol number: 46630) and Tuscany Region within the project—Progetto NIKE_Bando FAS SALUTE Regione Toscana 2018. Work presented by CD and colleagues was funded partly by the Alport Syndrome Foundation Inc. (ASF), Pedersen Family and the Kidney Foundation of Canada (KFOC) Funding Programme, EU’S HORIZON 2020 Research and Innovation Programme under Grant Agreement No. 857122, the Republic of Cyprus, and the University of Cyprus and by the—ChapERalport‖ POST-DOC/0916/0190 programme by the Cyprus Research and Innovation Foundation. RT research is funded by the Instituto de Salud Carlos III/Fondo Europeo de Desarrollo Regional (FEDER) funds, RETIC REDINREN RD16/0009 FIS FEDER FUNDS (PI15/01824, PI18/00362) and Marató TV3. DGL from the University of Zagreb School of Medicine received a financial support from Croatian Science Foundation within the project Genotype-phenotype correlation in Alport syndrome and thin glomerular basement membrane nephropathy (IP- 2014-09-2151). LP from the University of Southern California received a financial support from National Institutes of Health (NIH) (1R01DK123234). Funding Information: The organisers thank the Alport UK and Alport Syndrome Foundation for their support. We thank Kirstie and Laura of Endless Possibilities for the graphical documentation of the proceedings. The International Workshop 2019 conference centre Palazzo del Rettorato was provided free of charge by the University of Siena. The Workshop was made possible by the generous support of Alport UK, SANOFI, REATA Pharmaceutical as Event Sponsor and TRAVERE Therapeutics and Alport Syndrome Alliance as Education Sponsor. We thank all the patients association, Alport Foundation of Australia, Alport Syndrome.ca, Alport Syndrome Parent Association (China), AIRG—France, Alport Support Group (Germany), Israel Alport Foundation (IAF), Alport Syndrome Macedonia, Action for Alport (UK), Alport UK, Alport Syndrome Foundation (USA) and ASAL ONLUS (Italy). We like to acknowledge all the individuals that attended from around the world and contributed in making the Workshop a success.

PY - 2022/5

Y1 - 2022/5

UR - http://www.scopus.com/inward/record.url?scp=85126094673&partnerID=8YFLogxK

U2 - 10.1038/s41431-022-01075-0

DO - 10.1038/s41431-022-01075-0

M3 - Article

C2 - 35260866

AN - SCOPUS:85126094673

SN - 1018-4813

VL - 30

SP - 507

EP - 516

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 5

ER -

The 2019 and 2021 International Workshops on Alport Syndrome

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