NEW YORK — Genosity said on Tuesday that it has partnered with Columbia University to investigate the genetic underpinnings of wild-type cardiac amyloidosis, a rare condition characterized by the accumulation of abnormal proteins in the heart.
Although there is a heritable form of cardiac amyloidosis — called transthyretin-related (TTR) amyloidosis — that is caused by mutations in the gene that encodes the protein transthyretin, some individuals develop the disease without such mutations.
Woodbridge, New Jersey-based Genosity said it will work with researchers at Columbia University Irving Medical Center to perform whole-exome sequencing on samples from cardiac amyloidosis patients lacking TTR mutations, and analyze the data to identify other potential disease-causing genes and pathways.
A company spokesperson said that the partners are aiming to sequence around 100 samples this year, given the rarity of the disease.
"Wild-type transthyretin amyloidosis is the most common form of cardiac amyloidosis … but why some patients develop this condition as they age remains an enigma," Matthew Maurer, a Columbia researcher and principal investigator of the study, said in a statement. "We're hoping that previously unexplored regions of the genome can elucidate the mechanism."