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SPECIALITY
6 initial clinical diagnosis in four Institute, Mexico and Hôpital
families was re-classified based on Maisonneuve Rosemont, Canada;
listed in the Genome Aggregation their genotype. Angel Soto-Hermida, Hiroko Matsui,
Database, an international Shyamanga Borooah, Berzhan
compilation of genomic data. The authors said the new Kumarov, Bonnie Huang, John Suk,
findings boost understanding of Jason Zhao, Sindhu Devalaraja,
Overall, causative variants the distribution of IRD causative Andrew Huynh, Akhila Alapati and
were detected in 63 percent of mutations in these three diverse Qais Zawaydeh, UC San Diego;
Mexican participants, 60 percent populations, which will further Jacque L. Duncan, UCSF; Gabriele
of Pakistani, and 48 percent of understanding of disease variation Richard, GeneDx; Shahid Yar Khan,
European American. and presentation. That, in turn, will Johns Hopkins University School of
help design more efficient genetic Medicine; Kari Branham, Naheed
The study also identified a testing strategies and therapies W. Khan and John R Heckenlively,
large proportion of new IRD applicable to global populations. University of Michigan; Benjamin
causative mutations specific to the Bakall, University of Arizona;
populations studied and revealed The research team was led by Jeffrey L. Goldberg, Byers Eye
the types of mutations contributing Radha Ayyagari, PhD, professor Institute; Luis Gabriel, Genetics
to inherited retinal dystrophies. of ophthalmology and pathology, and Ophthalmology, Genelabor,
Approximately 13 percent of and Kelly A. Frazer, PhD, professor Brazil; Pongali B Raghavendra,
the families displayed atypical of pediatrics and director of the REVA University and Manipal
or unexpected changes in the Institute for Genomic Medicine, University, Brazil India; Richard G
genome. Five of the family lineages both at UC San Diego School of Weleber, Oregon Health & Science
had mutations in more than one Medicine; and S. Amer Riazuddin, University; J. Fielding Hejtmancik,
gene in all affected individuals; one PhD, associate professor of National Institutes of Health; Sheikh
family carried mutations in different ophthalmology at John Hopkins Riazuddin, University of Punjab
genes in different affected members University, in collaboration with and Allama Iqbal Medical College,
and a de novo mutation was found institutions in India, Mexico, Pakistan; and Paul A. Sieving,
in one patient that was not present Canada, Brazil, Pakistan and the National Eye Institute and UC Davis.
in both parents. United States.
Story Source:
An additional 8 percent of families Co-authors include: Pooja Materials provided by University
had large changes in the structure Biswas, UC San Diego and of California - San Diego. Original
of their genome causing the REVA University, India; Adda L. written by Scott La Fee. Note:
inherited retinal disease and the Villanueva, Retina and Genomics Content may be edited for style and
length.
Journal Reference:
1. Pooja Biswas, Adda L.
Villanueva, Angel Soto-Hermida,
Jacque L. Duncan, Hiroko Matsui,
Shyamanga Borooah, Berzhan
Kumarov, Gabriele Richard, Shahid
Yar Khan, Kari Branham, Bonnie
Huang, John Suk, Benjamin Bakall,
Jeffrey L. Goldberg, Luis Gabriel,
Naheed W. Khan, Pongali B.
Raghavendra, Jason Zhao, Sindhu
Devalaraja, Andrew Huynh, Akhila
Alapati, Qais Zawaydeh, Richard
G. Weleber, John R. Heckenlively,
J. Fielding Hejtmancik, Sheikh
Riazuddin, Paul A. Sieving, S. Amer
Riazuddin, Kelly A. Frazer, Radha
Ayyagari. Deciphering the genetic
architecture and ethnographic
distribution of IRD in three ethnic
populations by whole genome
sequence analysis. PLOS Genetics,
2021; 17 (10): e1009848 DOI:
10.1371/journal.pgen.1009848
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