Rare Genetic Disease Linked to Black Loyalist Descendants in Nova Scotia
New research published in the Canadian Journal of Cardiology links hereditary transthyretin amyloidosis (hATTR) to descendants of Black Loyalists in Nova Scotia. The study follows the 2016 death of James Henry Brothers, whose years of misdiagnosis prompted his daughter to establish a nonprofit in 2025 offering genetic testing to the African Nova Scotian community.
A report published in the Canadian Journal of Cardiology has identified a link between a rare, life-threatening disease called hereditary transthyretin amyloidosis (hATTR) and descendants of Black Loyalists in Nova Scotia. The research was prompted by the case of James Henry Brothers, who died in November 2016 at age 65 after enduring 15 years of undiagnosed symptoms.
Brothers was finally diagnosed with hATTR in 2013 by Dr. Daniel Woo, a cardiologist in Kentville. After conducting independent research, Dr. Woo sent a heart biopsy to the Mayo Clinic in Minnesota, which confirmed the condition. According to the journal report, Brothers was the first person in generations in Canada to be diagnosed with the homozygous V1221 gene variant associated with hATTR. This variant is specific to people of West African descent and affects three to four percent of the Black population in the United States and the U.K. Prior to his accurate diagnosis, family deaths had been misdiagnosed as heart failure rather than amyloidosis.
The historical mistreatment of Black Loyalists and African Nova Scotians led to social isolation that may have caused the local gene pool to shrink, increasing the frequency of the mutation within these communities. This isolation has elevated the risk of hATTR among Black Nova Scotians.
In response, Rachel Brothers founded the nonprofit Amyloid Action Canada in 2025. The organization aims to increase awareness and improve access to genetic testing for hATTR within Black Nova Scotian communities. Amyloid Action Canada partners with Maritime Medical Genetics to provide test results in six weeks for community members who attend its awareness sessions.
These advocacy and genetic testing initiatives are intended to improve the potential for early detection and treatment of the disease across affected populations.