The 2019 and 2021 International Workshops on Alport Syndrome
Por:
Daga, S, Ding, J, Deltas, C, Savige, J, Lipska-Zietkiewicz, BS, Hoefele, J, Flinter, F, Gale, DP, Aksenova, M, Kai, H, Perin, L, Barua, M, Torra, R, Miner, JH, Massella, L, Ljubanovic, DG, Lennon, R, Weinstock, AB, Knebelmann, B, Cerkauskaite, A, Gear, S, Gross, O, Turner, AN, Baldassarri, M, Pinto, AM, Renieri, A
Publicada:
1 ene 2022
Ahead of Print:
1 mar 2022
Resumen:
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 alpha 3, alpha 4, alpha 5 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.
Filiaciones:
Daga, S:
Univ Siena, Med Genet, Siena, Italy
Univ Siena, Med Biotech Hub & Competence Ctr, Dept Med Biotechnol, Siena, Italy
Ding, J:
Peking Univ First Hosp, Beijing, Beijing, Peoples R China
Deltas, C:
Biobank Cy Ctr Excellence Biobanking & Biomed Res, Nicosia, Cyprus
Univ Cyprus, Sch Med, Nicosia, Cyprus
Savige, J:
Dept Med, Melbourne, Vic, Australia
Univ Melbourne, Northern Hlth, Parkville, Vic 3050, Australia
Lipska-Zietkiewicz, BS:
Med Univ Gdansk, Rare Dis Ctr, Dept Biol & Med Genet, Clin Genet Unit, Gdansk, Poland
Hoefele, J:
Tech Univ Munich, Inst Human Genet, Sch Med, Klinikum Rechts Isar, Munich, Germany
Flinter, F:
Guys & St Thomas NHS Fdn Trust, Dept Clin Genet, London, England
Gale, DP:
UCL, Dept Renal Med, London, England
UK Renal Registry, Rare Renal Dis Registry, Bristol, England
Aksenova, M:
Pirogov Russian Natl Res Med Univ, Y Veltischev Res & Clin Inst Pediat, Taldomskaya St 2, Moscow 125412, Russia
Kai, H:
Kumamoto Univ, Dept Mol Med, Kumamoto, Kumamoto, Japan
Perin, L:
Childrens Hosp Los Angeles, Saban Res Inst, Div Urol, GOFARR Lab Organ Regenerat Res & Cell Therapeut U, Los Angeles, CA USA
Univ Southern Calif, Dept Urol, Keck Sch Med, Los Angeles, CA 90007 USA
Barua, M:
Univ Toronto, Toronto Gen Hosp, Toronto Gen Res Inst, Toronto, ON, Canada
Torra, R:
Univ Autonoma Barcelona, Inherited Kidney Dis, Dept Nephrol, Fundacio Puigvert,IIB St Pau,Med Dept, Barcelona, Spain
Miner, JH:
Washington Univ, Div Nephrol, Sch Med, St Louis, MO 63110 USA
Massella, L:
IRCCS, Bambino Gesu Childrens Hosp, Dept Pediat Subspecialties, Div Nephrol, Rome, Italy
Ljubanovic, DG:
Univ Zagreb, Sch Med, Dept Pathol, Zagreb, Zagreb, Croatia
Dubrava Univ Hosp, Dept Nephropathol & Electron Microscopy, Zagreb, Zagreb, Croatia
Lennon, R:
Univ Manchester, Manchester Acad Hlth Sci Ctr, Wellcome Ctr Cell Matrix Res,Fac Biol Med & Hlth, Div Cell Matrix Biol & Regenerat Med,Sch Biol Sci, Manchester, England
Weinstock, AB:
Alport Syndrome Fdn, Phoenix, AZ USA
Knebelmann, B:
Paris Univ, Necker Hosp, AP HP, Nephrol Dept,Reference Ctr Inherited Kidney Dis M, Paris, France
Cerkauskaite, A:
Vilnius Univ, Fac Med, Vilnius, Lithuania
Vilnius Univ Hosp, Santaros Klin, Vilnius, Lithuania
Gear, S:
Alport UK, Tetbury, England
Gross, O:
Univ Med Goettingen, Dept Nephrol & Rheumatol, Gottingen, Germany
Turner, AN:
Univ Edinburgh, Ctr Inflammat, Edinburgh, Midlothian, Scotland
Baldassarri, M:
Univ Siena, Med Genet, Siena, Italy
Univ Siena, Med Biotech Hub & Competence Ctr, Dept Med Biotechnol, Siena, Italy
Azienda Osped Univ Senese, Genet Med, Siena, Italy
Pinto, AM:
Azienda Osped Univ Senese, Genet Med, Siena, Italy
Renieri, A:
Univ Siena, Med Genet, Siena, Italy
Univ Siena, Med Biotech Hub & Competence Ctr, Dept Med Biotechnol, Siena, Italy
Azienda Osped Univ Senese, Genet Med, Siena, Italy
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