Daga, Sergio;
Ding, Jie;
Deltas, Constantinos;
Savige, Judy;
Lipska-Zietkiewicz, Beata S;
Hoefele, Julia;
Flinter, Frances;
... Renieri, Alessandra; + view all
(2022)
The 2019 and 2021 International Workshops on Alport Syndrome.
European Journal of Human Genetics
10.1038/s41431-022-01075-0.
(In press).
Preview |
Text
s41431-022-01075-0.pdf - Published Version Download (1MB) | Preview |
Abstract
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.
Archive Staff Only
 |
View Item |
