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SPECIALITY
Genomic study revealing
among diverse populations
with inherited retinal disease
International effort identified new and different causative gene variants
for a group of diseases that can lead to severe vision loss or blindness
n international team of IRDs are rare, but they affect of an individual. It provides a
researchers, led by scientists individuals of all ages, progressing comprehensive portrait of the
Aat University of California San at different rates, even within person’s entire genome, including
Diego and Shiley Eye Institute at UC families afflicted with the same mutations and variants, which can
San Diego Health, has broadened disease. Specific diagnosis be used for broad comparative
and deepened understanding of depends on finding the genetic purposes.
how inherited retinal dystrophies causative mutations.
(IRDs) affect different populations Study participants were recruited
of people and, in the process, have The U.S. Food and Drug from three different geographic
identified new gene variants that Administration has approved gene regions: Mexico, Pakistan and
may cause the diseases. therapy for treating one form of IRD European Americans living in the
involving the gene RPE65, but for United States. Genomic analyses
The findings published in the other IRDs caused by mutations were conducted from blood
October 18, 2021 issue of PLOS in more than 280 different genes, samples taken from all participants,
Genetics. there are no cures or treatments which revealed causative variants in
proven to slow disease progression. 62 of the 108 lineages. A total of 94
IRDs are a group of diseases, gene variants were found in the 62
from retinitis pigmentosa to The researchers conducted whole- families: 52 variants had previously
choroideremia, that result in genome sequences (WGS) of 409 been identified as causative and
progressive vision loss, even persons from 108 unrelated family 42 had not. Surprisingly, more than
blindness. Each IRD is caused by lineages, each with a previously half of the new variants were not
at least one gene mutation, though diagnosed IRD. WGS is a process
mutations in the same gene may of determining the entirety, or
lead to different IRD diagnoses. near-entirety, of the DNA sequence 7
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