Web of Science: 11 cites, Scopus: 11 cites, Google Scholar: cites,
The 2019 and 2021 International Workshops on Alport Syndrome
Daga, Sergio (University of Siena)
Ding, Jie (Peking University First Hospital)
Savige, Judy (The University of Melbourne)
Lipska-Ziętkiewicz, Beata S. (Medical University of Gdańsk)
Hoefele, Julia (Technical University of Munich)
Flinter, Frances (Guys' and St Thomas' NHS Foundation Trust)
Gale, Daniel (UK Renal Registry. Rare Renal Disease Registry)
Aksenova, Marina (Y. Veltischev Research and Clinical Institute for Pediatrics at the Pirogov Russian National Research Medical University)
Kai, Hirofumi (Kumamoto University)
Perin, Laura (University of Southern California)
Barua, Moumita (University of Toronto)
Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau)
Miner, Jeff H. (Washington University School of Medicine)
Massella, Laura (Bambino Gesù Children's Hospital)
Ljubanović, Danica Galešić (University of Zagreb)
Lennon, Rachel (The University of Manchester)
Weinstock, Andrè B. (Alport Syndrome Foundation)
Knebelmann, Bertrand (Paris University, Paris, France)
Cerkauskaite, Agne (Vilnius University Hospital Santariskiu Clinics)
Gear, Susie (Alport UK, Tetbury, UK)
Gross, Oliver (University Medical Center Göttingen)
Turner, A. Neil (University of Edinburgh)
Baldassarri, Margherita (Azienda Ospedaliero-Universitaria Senese)
Pinto, Anna Maria (Azienda Ospedaliero-Universitaria Senese)
Renieri, Alessandra (Azienda Ospedaliero-Universitaria Senese)
Universitat Autònoma de Barcelona

Data: 2022
Resum: 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.
Ajuts: European Commission 857122
Instituto de Salud Carlos III RD16/0009
Instituto de Salud Carlos III PI15/01824
Instituto de Salud Carlos III PI18/00362
Drets: Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original. Creative Commons
Llengua: Anglès
Document: Article ; recerca ; Versió publicada
Matèria: Genetics research ; Genetics
Publicat a: European Journal of Human Genetics, march 2022, p. 1-10, ISSN 1476-5438

DOI: 10.1038/s41431-022-01075-0
PMID: 35260866

10 p, 1.7 MB

El registre apareix a les col·leccions:
Documents de recerca > Documents dels grups de recerca de la UAB > Centres i grups de recerca (producció científica) > Ciències de la salut i biociències > Institut de Recerca Sant Pau
Articles > Articles de recerca
Articles > Articles publicats

 Registre creat el 2022-05-17, darrera modificació el 2024-04-05

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