Zobrazeno 1 - 10
of 49
pro vyhledávání: '"Aniz Girach"'
Autor:
Artur V. Cideciyan, Samuel G. Jacobson, Allen C. Ho, Malgorzata Swider, Alexander Sumaroka, Alejandro J. Roman, Vivian Wu, Robert C. Russell, Iryna Viarbitskaya, Alexandra V. Garafalo, Michael R. Schwartz, Aniz Girach
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 32, Iss , Pp 101873- (2023)
Purpose: An intravitreally injected antisense oligonucleotide, sepofarsen, was designed to modulate splicing within retinas of patients with severe vision loss due to deep intronic c.2991 + 1655A > G variant in the CEP290 gene. A previous report show
Externí odkaz:
https://doaj.org/article/f39e007917e243f9b76ef7bb46b524bd
Autor:
Aniz Girach, Isabelle Audo, David G. Birch, Rachel M. Huckfeldt, Byron L. Lam, Bart P. Leroy, Michel Michaelides, Stephen R. Russell, Juliana M.F. Sallum, Katarina Stingl, Stephen H. Tsang, Paul Yang
Publikováno v:
Therapeutic Advances in Ophthalmology, Vol 14 (2022)
Inherited retinal diseases (IRDs) are a genetically and phenotypically heterogeneous group of genetic eye disorders. There are more than 300 disease entities, and together this group of disorders affects millions of people globally and is a frequent
Externí odkaz:
https://doaj.org/article/226aab6d39cd48b586763105aaa823da
Autor:
Artur V. Cideciyan, PhD, Samuel G. Jacobson, MD, PhD, Allen C. Ho, MD, Arun K. Krishnan, OD, PhD, Alejandro J. Roman, MS, Alexandra V. Garafalo, MS, Vivian Wu, MS, Malgorzata Swider, PhD, Alexander Sumaroka, PhD, Caroline Van Cauwenbergh, PhD, Stephen R. Russell, MD, Arlene V. Drack, MD, Bart P. Leroy, MD, PhD, Michael R. Schwartz, MS, Aniz Girach, MD
Publikováno v:
Ophthalmology Science, Vol 2, Iss 2, Pp 100133- (2022)
Purpose: To understand consequences of reconstituting cone photoreceptor function in congenital binocular blindness resulting from mutations in the centrosomal protein 290 (CEP290) gene. Design: Phase 1b/2 open-label, multicenter, multiple-dose, dose
Externí odkaz:
https://doaj.org/article/0e7a0cea43364b59973a7b08801fbbad
Publikováno v:
Current Opinion in Ophthalmology. 34:226-231
Autor:
Arun kumar Krishnan, Malgorzata Swider, Alejandro J. Roman, Alexander Sumaroka, Artur V. Cideciyan, Aniz Girach, Michael R. Schwartz, Allen C. Ho, Samuel G. Jacobson, Alexandra V. Garafalo
Publikováno v:
Nat Med
Leber congenital amaurosis due to CEP290 ciliopathy is being explored by treatment with an antisense oligonucleotide (AON) sepofarsen. One individual who was part of a larger cohort (ClinicalTrials.gov no. NCT03140969) was studied for 15 months after
Autor:
Bart P. Leroy, Fernanda Belga Ottoni Porto, Byron L. Lam, Robert K. Koenekoop, Jacque L. Duncan, Stephen R. Russell, Aniz Girach, David G. Birch
Publikováno v:
Retina (Philadelphia, Pa.)
Retina (Philadelphia, Pa.), vol 41, iss 5
Retina (Philadelphia, Pa.), vol 41, iss 5
Supplemental Digital Content is Available in the Text. In this article, we review the clinical characteristics of Leber congenital amaurosis due to CEP290 mutations (LCA10) and its impact on patients and society. We discuss the challenges associated
Autor:
Isabelle Audo, David G. Birch, K. Thiran Jayasundera, Isabelle Meunier, Rachel M. Huckfeldt, Robert K. Koenekoop, Paul Yang, Edouard P. M. Cock, Ellen C. Dahler, John Taylor, Naveed Shams, Aniz Girach
Publikováno v:
Acta Ophthalmologica. 100
Publikováno v:
Retina
Retina (Philadelphia, Pa.), vol 39, iss 11
Retina (Philadelphia, Pa.), vol 39, iss 11
Purpose Choroideremia is an incurable, X-linked, recessive retinal dystrophy caused by loss of function mutations in the CHM gene. It is estimated to affect approximately 1 in 50,000 male patients. It is characterized by progressive degeneration of t
Autor:
M. Dominik Fischer, Alexandra Davies, Edmond Luo, Cristina Martinez-Fernandez de la Camara, James Aylward, Anna Paola Salvetti, Byron L. Lam, Jasmina Cehajic-Kapetanovic, Potyra R. Rosa, Aniz Girach, Tuyen Ong, Laura J Wood, Jasleen K Jolly, Brandon J. Lujan, Graeme C.M. Black, Alun R. Barnard, Ninel Z. Gregori, Robert E MacLaren, Paulo E. Stanga, Andrew J. Lotery, Anika Nanda, Kanmin Xue, Janet L. Davis
Retinal gene therapy has shown great promise in treating retinitis pigmentosa (RP), a primary photoreceptor degeneration that leads to severe sight loss in young people. In the present study, we report the first-in-human phase 1/2, dose-escalation cl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::599e0e25ff2a57b4ee69a8de68818190
https://ora.ox.ac.uk/objects/uuid:4e8ab24d-7fab-49f1-993b-3bc234ed1928
https://ora.ox.ac.uk/objects/uuid:4e8ab24d-7fab-49f1-993b-3bc234ed1928
Autor:
Stephen R. Russell, Arlene V. Drack, Artur V. Cideciyan, Samuel G. Jacobson, Bart P. Leroy, Caroline Van Cauwenbergh, Allen C. Ho, Alina V. Dumitrescu, Ian C. Han, Mitchell Martin, Wanda L. Pfeifer, Elliott H. Sohn, Jean Walshire, Alexandra V. Garafalo, Arun K. Krishnan, Christian A. Powers, Alexander Sumaroka, Alejandro J. Roman, Eva Vanhonsebrouck, Eltanara Jones, Fanny Nerinckx, Julie De Zaeytijd, Rob W. J. Collin, Carel Hoyng, Peter Adamson, Michael E. Cheetham, Michael R. Schwartz, Wilhelmina den Hollander, Friedrich Asmus, Gerard Platenburg, David Rodman, Aniz Girach
Publikováno v:
Nature Medicine, 28, 1014-1021
NATURE MEDICINE
Nature Medicine, 28, 5, pp. 1014-1021
NATURE MEDICINE
Nature Medicine, 28, 5, pp. 1014-1021
CEP290-associated Leber congenital amaurosis type 10 (LCA10) is a retinal disease resulting in childhood blindness. Sepofarsen is an RNA antisense oligonucleotide targeting the c.2991+1655A>G variant in the CEP290 gene to treat LCA10. In this open-la