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                                      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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