Rare Disease Day #rarediseaseday #rarediseaseday2025
Aniridia is a rare genetic condition affecting the eyes, leading to iris loss, cataract, and corneal deterioration. Our lab is developing eyedrops that should be able to halt or reverse the deterioration of vision @aniridianetuk.bsky.social
Aniridia is a rare genetic condition affecting the eyes, leading to iris loss, cataract, and corneal deterioration. Our lab is developing eyedrops that should be able to halt or reverse the deterioration of vision @aniridianetuk.bsky.social
February 28, 2025 at 1:33 PM
Rare Disease Day #rarediseaseday #rarediseaseday2025
Aniridia is a rare genetic condition affecting the eyes, leading to iris loss, cataract, and corneal deterioration. Our lab is developing eyedrops that should be able to halt or reverse the deterioration of vision @aniridianetuk.bsky.social
Aniridia is a rare genetic condition affecting the eyes, leading to iris loss, cataract, and corneal deterioration. Our lab is developing eyedrops that should be able to halt or reverse the deterioration of vision @aniridianetuk.bsky.social
Our next Conference and Annual General Meeting (AGM) of Aniridia Network, will be online on 28/11/2026.
Save the date. More details on speakers soon!
Save the date. More details on speakers soon!
Annual General Meeting 2026
The Annual General Meeting (AGM) of Aniridia Network, a charitable incorporated organisation, will be held online on 28/11/2026.
aniridia.org.uk
September 29, 2026 at 9:21 AM
Our next Conference and Annual General Meeting (AGM) of Aniridia Network, will be online on 28/11/2026.
Save the date. More details on speakers soon!
Save the date. More details on speakers soon!
Read details of what our officials, members and supporters did as well our finances between April 2025 and March 2026 in the latest Aniridia Network Annual Report
Annual Report 2025-2026
Read details of what our officials, members and supporters did as well our finances between April 2025 and March 2026 in the latest Aniridia Network Annual Report
aniridia.org.uk
September 29, 2026 at 11:07 AM
Read details of what our officials, members and supporters did as well our finances between April 2025 and March 2026 in the latest Aniridia Network Annual Report
We are proud to have helped organise the recent European Aniridia Leadership and Collaboration Academy for 12 volunteers affected by aniridia. It developed their skills, confidence & connections to create leaders of aniridia associations.
Read the review: aniridiaconference.org/eac2026/revi...
Read the review: aniridiaconference.org/eac2026/revi...
Review of EALCA 2026 – 8th European Aniridia Conference
8th European Aniridia Conference
aniridiaconference.org
June 20, 2026 at 8:29 AM
We are proud to have helped organise the recent European Aniridia Leadership and Collaboration Academy for 12 volunteers affected by aniridia. It developed their skills, confidence & connections to create leaders of aniridia associations.
Read the review: aniridiaconference.org/eac2026/revi...
Read the review: aniridiaconference.org/eac2026/revi...
Día internacional de la celebración del solsticio, del Sol, del surf, del yoga, de la educación no sexista, de la Aniridia, de SYNGAP, el día europeo de la música y hoy empieza el verano. Quien no celebra algo hoy es porque no quiere, vamoooos. Esto es la hostia.
June 21, 2025 at 7:20 AM
Día internacional de la celebración del solsticio, del Sol, del surf, del yoga, de la educación no sexista, de la Aniridia, de SYNGAP, el día europeo de la música y hoy empieza el verano. Quien no celebra algo hoy es porque no quiere, vamoooos. Esto es la hostia.
Aniridia is a rare eye condition where the iris is missing or underdeveloped. We catch up with ANIRIDIA-NET, a recently ended COST Action dedicated to raising awareness & promoting innovative research to improve lives & vision of those affected: bit.ly/3Eft3ws
#COSTactions #ScienceWithoutBorders
#COSTactions #ScienceWithoutBorders
January 28, 2025 at 9:48 AM
Aniridia is a rare eye condition where the iris is missing or underdeveloped. We catch up with ANIRIDIA-NET, a recently ended COST Action dedicated to raising awareness & promoting innovative research to improve lives & vision of those affected: bit.ly/3Eft3ws
#COSTactions #ScienceWithoutBorders
#COSTactions #ScienceWithoutBorders
#BuenosDíasYBuenasNoticias 🌟 La comunidad científica avanza en la lucha contra la aniridia, una enfermedad rara que afecta al iris y provoca alta sensibilidad a la luz.
Investigaciones en medicina regenerativa, terapia génica e ingeniería de tejidos ofrecen esperanza para futuros tratamientos.
Investigaciones en medicina regenerativa, terapia génica e ingeniería de tejidos ofrecen esperanza para futuros tratamientos.
Esperanza para la aniridia: Numerosas investigaciones prometedoras en marcha
El director del Instituto Universitario Fernández-Vega, el doctor Jesús Merayo, ha destacado este viernes...
www.infosalus.com
March 1, 2025 at 7:37 AM
#BuenosDíasYBuenasNoticias 🌟 La comunidad científica avanza en la lucha contra la aniridia, una enfermedad rara que afecta al iris y provoca alta sensibilidad a la luz.
Investigaciones en medicina regenerativa, terapia génica e ingeniería de tejidos ofrecen esperanza para futuros tratamientos.
Investigaciones en medicina regenerativa, terapia génica e ingeniería de tejidos ofrecen esperanza para futuros tratamientos.
It's called aniridia I was born with it
March 25, 2026 at 4:36 PM
It's called aniridia I was born with it
Oh, and just for funsies, my brother was born with aniridia., a congenital birth defect. He's legally blind, and it's permanent.
For many, many years, he had to go and see a doctor to get a report to say that he was still blind so he could continue to receive his disability support pension.
For many, many years, he had to go and see a doctor to get a report to say that he was still blind so he could continue to receive his disability support pension.
August 24, 2026 at 9:38 PM
Oh, and just for funsies, my brother was born with aniridia., a congenital birth defect. He's legally blind, and it's permanent.
For many, many years, he had to go and see a doctor to get a report to say that he was still blind so he could continue to receive his disability support pension.
For many, many years, he had to go and see a doctor to get a report to say that he was still blind so he could continue to receive his disability support pension.
Creía que lo de Aniridia era inventado
June 21, 2025 at 9:45 AM
Creía que lo de Aniridia era inventado
TIL about Aniridia
I uh
didn't know that was a real thing
oops
I uh
didn't know that was a real thing
oops
May 2, 2025 at 7:35 PM
TIL about Aniridia
I uh
didn't know that was a real thing
oops
I uh
didn't know that was a real thing
oops
How does transcription factor haploinsufficiency work? Since PAX6 in aniridia by @vvheye.bsky.social it's been an open question. In parallel how does lineage-specific 3D chromatin get organized? Both these questions converged in this study, in which we examined the function of the cardiac TF TBX5 2/
January 13, 2025 at 5:10 PM
How does transcription factor haploinsufficiency work? Since PAX6 in aniridia by @vvheye.bsky.social it's been an open question. In parallel how does lineage-specific 3D chromatin get organized? Both these questions converged in this study, in which we examined the function of the cardiac TF TBX5 2/
Yup. If you can obtain call time records, then you've got something that can be data-matched if you need to make a formal complaint about the company.
My brother is legally blind (aniridia, bilateral cataracts), so this kind of thing is something I take personally.
My brother is legally blind (aniridia, bilateral cataracts), so this kind of thing is something I take personally.
April 18, 2024 at 2:49 AM
Yup. If you can obtain call time records, then you've got something that can be data-matched if you need to make a formal complaint about the company.
My brother is legally blind (aniridia, bilateral cataracts), so this kind of thing is something I take personally.
My brother is legally blind (aniridia, bilateral cataracts), so this kind of thing is something I take personally.
Ophthopedia Update: Neutral Intrachromosomal Translocation of PAX6 and Aniridia: This diagnostic study aims to determine whether optical genome mapping and long-read whole-genome sequencing can identify a pathogenic structural variant disrupting PAX6 in an individual… #Ophthalmology #Eyecare #JAMA
Neutral Intrachromosomal Translocation of PAX6 and Aniridia
This diagnostic study aims to determine whether optical genome mapping and long-read whole-genome sequencing can identify a pathogenic structural variant disrupting PAX6 in an individual with classic aniridia after negative standard clinical and short-read genomic testing.
dlvr.it
June 18, 2026 at 4:45 PM
Ophthopedia Update: Neutral Intrachromosomal Translocation of PAX6 and Aniridia: This diagnostic study aims to determine whether optical genome mapping and long-read whole-genome sequencing can identify a pathogenic structural variant disrupting PAX6 in an individual… #Ophthalmology #Eyecare #JAMA
How can you grow your skills, meet new people and help the aniridia community?
Take part in the 'European Aniridia Leadership and Collaboration Academy' in Bulgaria in April 2026.
Anyone aged 18 to 40 with an interest in aniridia can come. and may get their expenses paid by Aniridia Network.
Take part in the 'European Aniridia Leadership and Collaboration Academy' in Bulgaria in April 2026.
Anyone aged 18 to 40 with an interest in aniridia can come. and may get their expenses paid by Aniridia Network.
European Aniridia Leadership & Collaboration Academy – 8th European Aniridia Conference
aniridiaconference.org
December 11, 2025 at 1:36 AM
How can you grow your skills, meet new people and help the aniridia community?
Take part in the 'European Aniridia Leadership and Collaboration Academy' in Bulgaria in April 2026.
Anyone aged 18 to 40 with an interest in aniridia can come. and may get their expenses paid by Aniridia Network.
Take part in the 'European Aniridia Leadership and Collaboration Academy' in Bulgaria in April 2026.
Anyone aged 18 to 40 with an interest in aniridia can come. and may get their expenses paid by Aniridia Network.
#AwesomeCharacters
Vision (enter my low fantasy)
Ryan has aniridia, but her vision exists under certain circumstances. She “sees” low-frequency things before she hears low frequencies, but normally in her daily life she's almost blind.
Vision (enter my low fantasy)
Ryan has aniridia, but her vision exists under certain circumstances. She “sees” low-frequency things before she hears low frequencies, but normally in her daily life she's almost blind.
Tell me more about your #AwesomeCharacters
Technical question today!
What senses do your characters use most?
Do you describe what they see, smell, taste, feel, or hear more?
Is it different between characters?
Do any have special senses?
#WriteSky #WritingCommunity #WritingPrompts
Technical question today!
What senses do your characters use most?
Do you describe what they see, smell, taste, feel, or hear more?
Is it different between characters?
Do any have special senses?
#WriteSky #WritingCommunity #WritingPrompts
February 9, 2026 at 11:10 AM
#AwesomeCharacters
Vision (enter my low fantasy)
Ryan has aniridia, but her vision exists under certain circumstances. She “sees” low-frequency things before she hears low frequencies, but normally in her daily life she's almost blind.
Vision (enter my low fantasy)
Ryan has aniridia, but her vision exists under certain circumstances. She “sees” low-frequency things before she hears low frequencies, but normally in her daily life she's almost blind.
Aniridia is a rare, congenital panocular eye disorder characterized by partial or complete absence of the iris, most often caused by mutations in the PAX6 gene.
Learn more: make-a-miracle.org
You may be rare, but you're not alone!
#rareDisease #rareDiseaseAwareness
Learn more: make-a-miracle.org
You may be rare, but you're not alone!
#rareDisease #rareDiseaseAwareness
July 16, 2026 at 2:20 PM
Aniridia is a rare, congenital panocular eye disorder characterized by partial or complete absence of the iris, most often caused by mutations in the PAX6 gene.
Learn more: make-a-miracle.org
You may be rare, but you're not alone!
#rareDisease #rareDiseaseAwareness
Learn more: make-a-miracle.org
You may be rare, but you're not alone!
#rareDisease #rareDiseaseAwareness
Dr Ngozi Oluonye and I had a fantastic #WAGR weekend in Arundel hosted by the International WAGR Syndrome Association. To learn about this ultra #RareDisease, visit #GeneVision: gene.vision/knowledge-ba...
W=Wilms tumour
A=Aniridia
G=Genitourinary abnormalities
R=Range of developmental issues
W=Wilms tumour
A=Aniridia
G=Genitourinary abnormalities
R=Range of developmental issues
August 11, 2025 at 11:38 AM
Dr Ngozi Oluonye and I had a fantastic #WAGR weekend in Arundel hosted by the International WAGR Syndrome Association. To learn about this ultra #RareDisease, visit #GeneVision: gene.vision/knowledge-ba...
W=Wilms tumour
A=Aniridia
G=Genitourinary abnormalities
R=Range of developmental issues
W=Wilms tumour
A=Aniridia
G=Genitourinary abnormalities
R=Range of developmental issues
The authors included RRIDs in their in Gene Therapy paper! We value the author's support of reproducibility. #OpenResearch #RRID #methodsmatter
First pilot study of intravenous rAAV-PAX6 gene therapy increases retinal-ganglion-cell-layer thickness and Notch1 transcription in a mouse model of aniridia - Gene Therapy
Read the full paper: First pilot study of intravenous rAAV-PAX6 gene therapy increases retinal-ganglion-cell-layer thickness and Notch1 transcription in a mouse model of aniridia
doi.org
March 20, 2026 at 7:01 AM
The authors included RRIDs in their in Gene Therapy paper! We value the author's support of reproducibility. #OpenResearch #RRID #methodsmatter
Meanwhile in science: in Turin 2 siblings affected by congenital Aniridia got their problems fixed through a 3-in-1 surgery. Bonus: they got to choose the their eye color!
March 9, 2025 at 11:07 AM
Meanwhile in science: in Turin 2 siblings affected by congenital Aniridia got their problems fixed through a 3-in-1 surgery. Bonus: they got to choose the their eye color!
