September 17, 2020
Thanks to the generosity of patients, families, and friends, in the milestone 10th year of awarding research funding, Alport Syndrome Foundation is honored to announce the 2020 Research Award of $125,000 over two years to collaborators Dr. Moumita Barua and Dr. Andrew Paterson of the University of Toronto. Their project, Sex Specific Genotype Penetrance for Predictive Diagnosis in Alport Syndrome, takes research a step further in helping answer patients’ critical questions about disease progression patterns related to their specific sex and genetic mutation.
In their proposal, Drs. Barua and Paterson note Alport syndrome studies in the past have been biased toward individuals with more classic and severe manifestations. They hypothesize the prevalence of Alport syndrome is higher than previous estimates as a result of this inherent bias. Defining disease prevalence and genetic factors that influence its clinical spectrum will be achieved by studying participants in the UK Biobank, and patients with severe disease diagnosed in Canadian nephrology clinics. They will also focus on examining genetic factors that lead to clinical variability amongst females with X-linked Alport syndrome. More information is available in this press release.
2020 was the most competitive funding cycle to date; six countries were represented with triple the number of applicants over the prior year. ASF is appreciative of this exponential increase in Alport syndrome research interest. We greatly appreciate the efforts of the Medical Advisory Board members to thoroughly and thoughtfully review all the applicants’ proposed projects.
You can learn more about the ASF Research Program, including about previously funded projects, at this link. Research inquiries should be directed to André Weinstock, PhD, MSAS, Volunteer Research Committee Chair, Alport Syndrome Foundation, at [email protected].