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Research Opportunities October 2024

Current and Future Directions in Developing Effective Treatments for PRPH2- Associated Retinal Diseases: A Workshop Report

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Radha Ayyagari; Shyamanga Borooah; Todd Durham; Claire Gelfman; Angela Bowman
TAGS: genes, mutation, retinal diseases, blindness, vision
Trans. Vis. Sci. Tech.. 2024; 13(10):16. https://doi.org/10.1167/tvst.13.10.16

ARVO Annual Meeting Abstract June 2024

Multi-omic analysis of RPE and photoreceptor pathology in early-onset retinal degeneration in Mfrp -/- mice

DaNae Woodard; Kelsey Dang; Pooja Biswas; Anne Marie Berry; Danielle Lazaro; Allen Wang; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):654.

ARVO Annual Meeting Abstract June 2024

Proteome analysis reveals the pathways involved in disease pathology in mouse models of LORD

Donita Garland; Manisha Dagar; DaNae Woodard; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3176.

ARVO Annual Meeting Abstract June 2024

A single ancestral allele of the gene TMEM216 is a common cause of recessive retinitis pigmentosa in families of African ethnicity

Samantha Malka; Siying Lin; Elena Schiff; Genevieve Wright; Michel Michaelides; Omar Abdul Rahman Mahroo; Jessica Gardner; Alison J Hardcastle; Anne Marie Berry; Riccardo Sangermano; Carlo Rivolta; Mathieu Quinodoz; Kinga Maria Bujakowska; Radha Ayyagari; Gavin Arno; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4663.

ARVO Annual Meeting Abstract June 2024

Strategies for Evidence-based Variant Curation for LCA and Early Onset Retinal Dystrophy

Lori S Sullivan; Kristy Lee; William Hankey; Radha Ayyagari; Jacque L Duncan; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4655.

ARVO Annual Meeting Abstract June 2024

PRPH2 Gene Mutations and Associated Phenotypes in IRD patients with diverse genetic background.

Christopher Hallock; Riccardo Sangermano; Elfride De Baere; Siying Lin; Jennifer Thompson; Pascal Escher; Andrea L Vincent; Kaylie D Webb-Jones; Monika Grudzinska Pechhacker; Jacque L Duncan; Samer Khateb; Tamar Ben-Yosef; David G Birch; Andrew Webster; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5297.

ARVO Annual Meeting Abstract June 2024

Identification and evaluation of a non-coding variant located in the 5'-UTR of TMEM216 as an underlying cause of non-syndromic recessive retinal degeneration (RD) in Pakistani families.

Anne Marie Berry; Pooja Biswas; Gavin Arno; Mathieu Quinodoz; Riccardo Sangermano; Jiao Xiaodong; Mukhtar Ullah; Alison J Hardcastle; Kelly A Frazer; James Fielding Hejtmancik; Matteo D'Antonio; S. Amer Riazuddin; Carlo Rivolta; Kinga Maria Bujakowska; Andrew R Webster; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5287.

ARVO Annual Meeting Abstract June 2023

Choroid mast cells in aging and late onset retinal degeneration (L-ORD)

Donita Garland; Manisha Dagar; Anne Marie Berry; Danielle Lazaro; Pooja Biswas; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):425.

ARVO Annual Meeting Abstract June 2023

Role of macrophages in choroidal aging and L-ORD pathology

Manisha Dagar; Pooja Biswas; Julie P. Singh; Anne Marie Berry; Danielle Lazaro; Donita Garland; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):424.

ARVO Annual Meeting Abstract June 2023

Single-nucleus multi-modal analysis of photoreceptor alterations during cellular stress in MFRP-associated retinal degeneration

DaNae Woodard; Kelsey Dang; Ryan Lancione; Pooja Biswas; Danielle Lazaro; Anna Dinov; Anne Marie Berry; Julie P. Singh; Allen Wang; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1862.

ARVO Annual Meeting Abstract June 2023

The spectrum of phenotype and genotype observed in PRPH2 associated retinal degeneration.

Pooja Biswas; Danielle Lazaro; Emily K; Anne Marie Berry; DaNae Woodard; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):2799.

ARVO Annual Meeting Abstract June 2023

Single-nucleus analysis of the aging mouse retina reveals transcriptional and regulatory differences in rod and cone response to aging.

Anne Marie Berry; Kelsey Dang; Ryan Lancione; Pooja Biswas; Anna Dinov; DaNae Woodard; Manisha Dagar; Danielle Lazaro; Julie P. Singh; Donita Garland; Allen Wang; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3269.

ARVO Annual Meeting Abstract June 2022

Single-nucleus multi-modal analysis of MFRP associated retinal degeneration

Shikha Pachauri; Kelsey Dang; Pooja Biswas; Anil Kumar Chekuri; Manisha Dagar; Anne Marie Berry; Berzhan Kurmanov; Ryan Lancione; Donita Garland; Sebastian Preissl; Allen Wang; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):7.

ARVO Annual Meeting Abstract June 2022

Single Nucleus Multi-modal Analysis of the Aging Mouse Retina

Anne Marie Berry; Kelsey Dang; Pooja Biswas; Shikha Pachauri; Ryan Lancione; Manisha Dagar; Donita Garland; Sebastian Preissl; Allen Wang; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4.

ARVO Annual Meeting Abstract June 2022

ClinGen Variant Curation for X-linked Inherited Retinal Disease Genes

Kim C. Worley; Kristy Lee; Radha Ayyagari; Michael E Cheetham; Elfride De Baere; KERRY GOETZ; Robert K Koenekoop; Linyan Meng; MAXENCE NACHURY; Paul A Sieving; Lori S Sullivan; Christina Zeitz; Rui Chen

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):624 – A0339.

ARVO Annual Meeting Abstract June 2022

The role of the Complement pathway in L-ORD pathology caused by mutations in CTRP5.

Manisha Dagar; Anil Kumar Chekuri; Pooja Biswas; Shikha Pachauri; Donita Garland; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1949 – F0367.

ARVO Annual Meeting Abstract June 2022

Proteome analysis of choroidal aging in wild type and L-ORD mouse models

Donita Garland; Manisha Dagar; Anil Kumar Chekuri; Pooja Biswas; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1912 – A0058.

ARVO Annual Meeting Abstract June 2022

Htra1 KO mice develop severe photoreceptor loss and RPE abnormalities.

Pooja Biswas; Anne Marie Berry; Shikha Pachauri; Manisha Dagar; Naheed W Khan; Peter Shaw; Donita Garland; Monica M Jablonski; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1592 – A0381.

ARVO Annual Meeting Abstract June 2022

Optimizing Variant Curation Guidelines to Improve Clinical Genetic Testing for RPE65 Retinopathies Utilizing the ClinGen Framework

Kristy Lee; Justyne Ross; William Hankey; Andrew R Webster; Lori S Sullivan; Jacque L Duncan; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2834 – A0350.

ARVO Annual Meeting Abstract June 2022

A rare variant in ZBED1 , a gene from the pseudoautosomal region of the X and Y chromosomes, is a likely cause of dominant retinitis pigmentosa in several large families.

Lori S Sullivan; Elizabeth Cadena; Sara Bowne; Kinga Maria Bujakowska; Egle Galdikaite-Braziene; Emily Place; Eric A Pierce; Radha Ayyagari; Daniel Koboldt; David G Birch; Kaylie Jones; Kari Branham; Stephen P Daiger

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4120 – F0357.

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Current and Future Directions in Developing Effective Treatments for PRPH2- Associated Retinal Diseases: A Workshop Report

Multi-omic analysis of RPE and photoreceptor pathology in early-onset retinal degeneration in Mfrp -/- mice

Proteome analysis reveals the pathways involved in disease pathology in mouse models of LORD

A single ancestral allele of the gene TMEM216 is a common cause of recessive retinitis pigmentosa in families of African ethnicity

Strategies for Evidence-based Variant Curation for LCA and Early Onset Retinal Dystrophy

PRPH2 Gene Mutations and Associated Phenotypes in IRD patients with diverse genetic background.

Identification and evaluation of a non-coding variant located in the 5'-UTR of TMEM216 as an underlying cause of non-syndromic recessive retinal degeneration (RD) in Pakistani families.

Choroid mast cells in aging and late onset retinal degeneration (L-ORD)

Role of macrophages in choroidal aging and L-ORD pathology

Single-nucleus multi-modal analysis of photoreceptor alterations during cellular stress in MFRP-associated retinal degeneration

The spectrum of phenotype and genotype observed in PRPH2 associated retinal degeneration.

Single-nucleus analysis of the aging mouse retina reveals transcriptional and regulatory differences in rod and cone response to aging.

Single-nucleus multi-modal analysis of MFRP associated retinal degeneration

Single Nucleus Multi-modal Analysis of the Aging Mouse Retina

ClinGen Variant Curation for X-linked Inherited Retinal Disease Genes

The role of the Complement pathway in L-ORD pathology caused by mutations in CTRP5.

Proteome analysis of choroidal aging in wild type and L-ORD mouse models

Htra1 KO mice develop severe photoreceptor loss and RPE abnormalities.

Optimizing Variant Curation Guidelines to Improve Clinical Genetic Testing for RPE65 Retinopathies Utilizing the ClinGen Framework

A rare variant in ZBED1 , a gene from the pseudoautosomal region of the X and Y chromosomes, is a likely cause of dominant retinitis pigmentosa in several large families.

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