From Clarín · Redacción Clarín · · 1m
FENIB: Family Disease Found in Death Certificate
A woman discovered her family's rare genetic dementia through a death certificate, linking three generations of women to FENIB.
In brief
A woman discovered her family's rare genetic dementia through a death certificate, linking three generations of women to FENIB. Miranda Pappas identified FENIB, a rare genetic dementia affecting three generations of her family, after reviewing her grandmother's death certificate. Originally reported by Clarín.
Miranda Pappas' family disease
Miranda Pappas grew up knowing her family had a disease but didn't know its name.
Three generations affected
Her grandmother died at 29, her mother showed symptoms when she was young, and her sister died at 41 after a diagnosis at 26.
Family's secret disease
For decades, family members referred to the disease as 'eso' without understanding its cause.
Death certificate clue
Pappas reviewed her grandmother's death certificate, which listed acute coronary thrombosis as the cause of death.
FENIB identified
Using AI, Pappas found the disease was encephalopathy with neuroserpin inclusions, known as FENIB.
Family's genetic link
FENIB is a rare genetic dementia caused by mutations in the SERPINI1 gene, leading to neuroserpin accumulation in neurons.
What matters most
Miranda Pappas identified FENIB, a rare genetic dementia affecting three generations of her family, after reviewing her grandmother's death certificate.
