Despite the evidence that a meaningful 3-4% of the US Black population of West African ancestry likely carries the V122I genetic mutation, hereditary TTR amyloidosis remains significantly underdiagnosed and undertreated in this population. Amyloidosis can be devastating to both patients and their families. Increased awareness of the disease, availability of testing, and FDA-approved therapies are slowly beginning to shift this dynamic. However, there is still much work to be done to close the gap between diagnosed cases and the population estimated to be affected.
Hereditary transthyretin amyloidosis is caused by a genetic mutation which causes misfolding of transthyretin (TTR) proteins (which originate from the liver). There are over 100 genetic variants of hereditary amyloidosis. One such variant, called T60A, is the most common variant in Ireland (and the UK).
This past year was more of the same, but hitting a big milestone! With the help of so many, we continued to advance our dual mission of raising awareness and supporting research. Since we began …. For our raising awareness initiative – the Amyloidosis Speakers Bureau – we are SUPER PROUD to say we’ve given over 215 presentations to MORE THAN 10,000 medical students and residents!! For our supporting research initiative, we’ve given over $830,000!! Looking ahead, it’s all about continuing to do more of the same great work. We can’t do it without your support, passion, and shared determination to make a difference in the fight against amyloidosis. Thank you!