Ion channels and rare diseases

You've probably heard a lot of talk about rare diseases on social media these days. It’s because every year, the final day of February marks Rare Disease Day, a critical reminder of the challenges faced by those affected by these conditions. Interestingly, the first Rare Disease Day took place on February 29, 2008. February 29 – the rarest day of all.

Individually, rare diseases have low incidence rates, but their collective impact is huge and often overlooked. More than 7,000 rare diseases have been identified so far, and globally, they affect more than 300 million people. That’s about 4% of the global population, a tremendous number of people.

While some rare diseases, like hemophilia or cystic fibrosis, are relatively well-known, the vast majority remain obscure. Have you ever heard of Albers-Sch?nberg osteopetrosis, Parastremmatic dwarfism, or Gnathodiaphyseal dysplasia? Or did you know that almost 1 out of 5 cancers is rare? It seems that rare is much more common than we think.

So, I was wondering how many rare diseases have been associated with ion channels. I used data from OrphaData.com and discovered that 236 rare diseases are linked to ion channel genes (some of these diseases are linked to multiple ion channel genes). In total, I identified 164 different ion channel genes associated with rare diseases. You can see them in the image below.

A number of parent-led non-profit organizations are now raising awareness of ion channel-related rare diseases. They support and educate families and work hard to accelerate research with the goal of improving diagnosis, treatment, and care. If you want to support them in their mission, you can find some of these organizations here.

You can also learn more about how these different organizations collaborate, joining their efforts and making their voices stronger and louder.

#ionchannels #raredisease?#rarediseaseday

Timothy Syndrome Alliance CACNA1A Foundation CACNA1H Alliance Scn8a Italia SCN2A Australia & Asia Pacific International SCN8A Alliance KCNT1 Epilepsy Foundation KCNQ2 Cure Alliance