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The 2019 and 2021 International Workshops on Alport Syndrome
In 1927 Arthur Cecil Alport, a South African physician, described a British family with an inherited form of kidney disease that affected males more severely than females and was sometimes associated with hearing loss. In 1961, the eponymous name Alport syndrome was adopted. In the late twentieth ce...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer International Publishing
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8904161/ https://www.ncbi.nlm.nih.gov/pubmed/35260866 http://dx.doi.org/10.1038/s41431-022-01075-0 |
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author | Daga, Sergio Ding, Jie Deltas, Constantinos Savige, Judy Lipska-Ziętkiewicz, Beata S. Hoefele, Julia Flinter, Frances Gale, Daniel P. Aksenova, Marina Kai, Hirofumi Perin, Laura Barua, Moumita Torra, Roser Miner, Jeff H. Massella, Laura Ljubanović, Danica Galešić Lennon, Rachel Weinstock, Andrè B. Knebelmann, Bertrand Cerkauskaite, Agne Gear, Susie Gross, Oliver Turner, A. Neil Baldassarri, Margherita Pinto, Anna Maria Renieri, Alessandra |
author_facet | Daga, Sergio Ding, Jie Deltas, Constantinos Savige, Judy Lipska-Ziętkiewicz, Beata S. Hoefele, Julia Flinter, Frances Gale, Daniel P. Aksenova, Marina Kai, Hirofumi Perin, Laura Barua, Moumita Torra, Roser Miner, Jeff H. Massella, Laura Ljubanović, Danica Galešić Lennon, Rachel Weinstock, Andrè B. Knebelmann, Bertrand Cerkauskaite, Agne Gear, Susie Gross, Oliver Turner, A. Neil Baldassarri, Margherita Pinto, Anna Maria Renieri, Alessandra |
author_sort | Daga, Sergio |
collection | PubMed |
description | In 1927 Arthur Cecil Alport, a South African physician, described a British family with an inherited form of kidney disease that affected males more severely than females and was sometimes associated with hearing loss. In 1961, the eponymous name Alport syndrome was adopted. In the late twentieth century three genes responsible for the disease were discovered: COL4A3, COL4A4, and COL4A5 encoding for the α3, α4, α5 polypeptide chains of type IV collagen, respectively. These chains assemble to form heterotrimers of type IV collagen in the glomerular basement membrane. Scientists, clinicians, patient representatives and their families, and pharma companies attended the 2019 International Workshop on Alport Syndrome, held in Siena, Italy, from October 22 to 26, and the 2021 online Workshop from November 30 to December 4. The main topics included: disease re-naming, acknowledging the need to identify an appropriate term able to reflect considerable clinical variability; a strategy for increasing the molecular diagnostic rate; genotype-phenotype correlation from monogenic to digenic forms; new therapeutics and new therapeutic approaches; and gene therapy using gene editing. The exceptional collaborative climate that was established in the magical medieval setting of Siena continued in the online workshop of 2021. Conditions were established for collaborations between leading experts in the sector, including patients and drug companies, with the aim of identifying a cure for Alport syndrome. |
format | Online Article Text |
id | pubmed-8904161 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Springer International Publishing |
record_format | MEDLINE/PubMed |
spelling | pubmed-89041612022-03-09 The 2019 and 2021 International Workshops on Alport Syndrome Daga, Sergio Ding, Jie Deltas, Constantinos Savige, Judy Lipska-Ziętkiewicz, Beata S. Hoefele, Julia Flinter, Frances Gale, Daniel P. Aksenova, Marina Kai, Hirofumi Perin, Laura Barua, Moumita Torra, Roser Miner, Jeff H. Massella, Laura Ljubanović, Danica Galešić Lennon, Rachel Weinstock, Andrè B. Knebelmann, Bertrand Cerkauskaite, Agne Gear, Susie Gross, Oliver Turner, A. Neil Baldassarri, Margherita Pinto, Anna Maria Renieri, Alessandra Eur J Hum Genet Meeting Report In 1927 Arthur Cecil Alport, a South African physician, described a British family with an inherited form of kidney disease that affected males more severely than females and was sometimes associated with hearing loss. In 1961, the eponymous name Alport syndrome was adopted. In the late twentieth century three genes responsible for the disease were discovered: COL4A3, COL4A4, and COL4A5 encoding for the α3, α4, α5 polypeptide chains of type IV collagen, respectively. These chains assemble to form heterotrimers of type IV collagen in the glomerular basement membrane. Scientists, clinicians, patient representatives and their families, and pharma companies attended the 2019 International Workshop on Alport Syndrome, held in Siena, Italy, from October 22 to 26, and the 2021 online Workshop from November 30 to December 4. The main topics included: disease re-naming, acknowledging the need to identify an appropriate term able to reflect considerable clinical variability; a strategy for increasing the molecular diagnostic rate; genotype-phenotype correlation from monogenic to digenic forms; new therapeutics and new therapeutic approaches; and gene therapy using gene editing. The exceptional collaborative climate that was established in the magical medieval setting of Siena continued in the online workshop of 2021. Conditions were established for collaborations between leading experts in the sector, including patients and drug companies, with the aim of identifying a cure for Alport syndrome. Springer International Publishing 2022-03-09 2022-05 /pmc/articles/PMC8904161/ /pubmed/35260866 http://dx.doi.org/10.1038/s41431-022-01075-0 Text en © The Author(s) 2022, corrected publication 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Meeting Report Daga, Sergio Ding, Jie Deltas, Constantinos Savige, Judy Lipska-Ziętkiewicz, Beata S. Hoefele, Julia Flinter, Frances Gale, Daniel P. Aksenova, Marina Kai, Hirofumi Perin, Laura Barua, Moumita Torra, Roser Miner, Jeff H. Massella, Laura Ljubanović, Danica Galešić Lennon, Rachel Weinstock, Andrè B. Knebelmann, Bertrand Cerkauskaite, Agne Gear, Susie Gross, Oliver Turner, A. Neil Baldassarri, Margherita Pinto, Anna Maria Renieri, Alessandra The 2019 and 2021 International Workshops on Alport Syndrome |
title | The 2019 and 2021 International Workshops on Alport Syndrome |
title_full | The 2019 and 2021 International Workshops on Alport Syndrome |
title_fullStr | The 2019 and 2021 International Workshops on Alport Syndrome |
title_full_unstemmed | The 2019 and 2021 International Workshops on Alport Syndrome |
title_short | The 2019 and 2021 International Workshops on Alport Syndrome |
title_sort | 2019 and 2021 international workshops on alport syndrome |
topic | Meeting Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8904161/ https://www.ncbi.nlm.nih.gov/pubmed/35260866 http://dx.doi.org/10.1038/s41431-022-01075-0 |
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