Is it weird to have a favorite disease? The one that you know better than most? The one where you can quote obscure articles from 1996 the way your nerdy cousin quotes original Star Wars dialogue?
“You came in that thing? You’re braver than I thought.”
The one that you can talk about to residents and fellows until their eyes glaze over? For me, that disease is Alport syndrome. My love affair started in fellowship, quite by accident. I did my required research time in the lab of Dr. Yoav Segal, an adult nephrologist who had just generated the first mouse model of X-linked Alport syndrome, at a time when you couldn’t just order a new transgenic mouse off the internet. I was fascinated by the fact that this very abnormal basement membrane worked perfectly normally at birth, then predictably thickened and led to mouse ESRD (i.e. death). What are the mechanisms that promote progression of CKD in Alport syndrome? What is the role of the other cells in the glomerular filtration barrier in disease progression? At that time, a diagnosis of Alport syndrome meant that you were invariably going to need dialysis or transplantation. Not only was there no cure, but our best doctor response was: “I’m afraid there’s nothing we can offer.” A lot has changed since then including recognition that ACE inhibitors can slow progression and insights into the disease pathogenesis. Although I’m not in the lab anymore, I still keep very close track of the field and thought I would share my top 10 Alport Syndrome Advances and News of 2017.
Twitter moment: https://twitter.com/i/moments/94594518026736025
Although a lot of worthy papers and events this year, my Number One was the 2017 International Alport Syndrome workshop in Glasgow sponsored by AlportUK and organized by Dr. Rachel Lennon (@RLWczyk). This is the 3rd meeting of this group of basic science and clinical researchers, adult and pediatric nephrologists, patients, pharma, and geneticists who get together to share their work, find new ways to collaborate, and work to set a coherent research agenda for the field. This is a model of how research should be done. We shouldn’t be hiding our work from others and focused on who can publish first. We should be working together to advance the field as quickly as possible for the benefit of patients with this disease. They don’t care how many publications I have on my CV, but they do care if they can delay dialysis from their early 20s to their 30s or 40s or hopefully someday cure the disease entirely.
I hope none of the other renal diseases are jealous, but Alport syndrome will always be my favorite. Looking forward to what 2018 will bring!