Joni Turunen

Ophthalmogenetics. Ophthalmologist at Helsinki University Hospital and the leader of eye genetics research group at Folkhälsan Research Center.

[Genome Aggregation Database @gnomad_project]

GeniE, the genetic prevalence estimator, is now available! https://t.co/QHtuIvLrGt

This tool allows users to estimate the genetic prevalence of autosomal recessive diseases using #gnomAD allele frequency data & classifications from #ClinVar

Blog post: https://t.co/aSpUglRKVj

[Joni Turunen @joniturunen]

Yes, I hope @eshgsociety keeps the hybrid format in future. Not everyone can always attend. Excellent conference!

[Jeffrey Barrett @jcbarret]

@eshgsociety @SECGlasgow Well done! The hybrid format is really excellent. I hope you’ll keep it!

[ERN-EYE @ErnEyeEU]

Attend our next webinar on Foveal Hypoplasia: a big diagnostic dilemma! On 29th June, 3 pm CEST.

More information: https://t.co/X0ULeJ0ApE

[Michalis Georgiou, MD, PhD @GeoMichalis]

Hot off the press @AJOphthalmology : First peer reviewed results of gene therapy for CNGB3-Achromatopsia 👁️🧬 Pleasure to be part of the team from the early steps of this phase 1/2 trial @MichelMichaelid @retinology @MoorfieldsBRC @UCL_Retina @UCLeye

https://t.co/twJH9QhKxM

[ERN-EYE @ErnEyeEU]

Join our next ERN-EYE webinar!

It is taking place on Thursday 4th May 2023 at 3.30 pm CEST on Coats disease.

#ShareCareCure

https://t.co/zOIN5dYHXv

[Joel Rämö @joeltramo]

I’m excited to share our publication on the genetics🧬 of central serous chorioretinopathy, now out in @JAMAOphth. We identify overlap with age-related macular degeneration and support roles for the choroidal vasculature and the complement system.
https://t.co/iaJCYMzk9h

[Joni Turunen @joniturunen]

It has been an excellent observational exchange week focused on rare eye diseases at the Meyer University Hospital and at @AOUCareggi in #Florence @ErnEyeEU facilitates this opportunity!

[Joni Turunen @joniturunen]

@HUS_fi @helsinkiuni @FolkhalsanRC @Folkhalsan

[Joni Turunen @joniturunen]

Our article published today online in @ActaOphthalmol describes the genetic background of juvenile open-angle glaucoma in Finland. Gongrats @PerttuLiuska
https://t.co/R4gF3GCGGi

[Joni Turunen @joniturunen]

We propose that positive family history, elevated IOP, and age at onset 35 years or less could be considered supporting factors when referring a patient with early-onset glaucoma to genetic testing.

[Joni Turunen @joniturunen]

These criteria are in line with the classical definition of JOAG (European Glaucoma Society, 2017). Careful evaluation of the anterior segment is crucial because high-tension glaucoma may be a sign of a syndromic anterior segment anomaly.

[Joni Turunen @joniturunen]

Tutkimusryhmämme kirjoittama katsaus perinnöllisestä sarveiskalvotulehduksesta (Keratis fugax hereditaria), joka edelleen tunnistetaan Suomessa (ja maailmalla) huonosti. @Duodecimlehti https://t.co/4B7tLmLCy0

[Joni Turunen @joniturunen]

In Ljubljana in the meeting of the ERN-EYE, the European network for improving care for rare eye diseases. Always good to meet brilliant minds from the same field!

[ERN-EYE @ErnEyeEU]

The traditional group photo of the ERN-EYE meeting! #ErnEyeInLjubljana #ShareCareCure

[Joni Turunen @joniturunen]

Congratulation @FinnGen_FI! Great collection of articles in the @Nature family of journals utilizing Finnish biobanks. As a relatively isolated population, Finns have a more homogenous genetic makeup than others. https://t.co/zbFBCdtTsU

[ERN-EYE @ErnEyeEU]

Read our press release ! ERN-EYE Scientific Workshop, 1-2 December 2022

#ErnEyeInGhent #ShareCareCure

https://t.co/8MjKd26v0f

[ERN-EYE @ErnEyeEU]

[🎥New video]

Discover the new video on our network!

Find out all about ERN-EYE in this video and on https://t.co/y28y59O9Sd (a written description is available on the home page of the website).

https://t.co/KhCXyubI75

[FinnGen @FinnGen_FI]

Joulukalenterin luukusta löytyy tänään tunnettu glaukooman riskitekijä, MYOC-geenin Gln368Ter-mutaatio. Se on Suomessa yleisempi kuin muualla maailmassa, ja siksi täällä pystyttiin tutkimaan tarkemmin sen merkitystä eri tyyppisten glaukoomien riskiin. 🎁: https://t.co/QdyKs9hQdR

[Joni Turunen @joniturunen]

The link to the nomad:
https://t.co/GdbvDha2RG

[Joni Turunen @joniturunen]

Our recent publication of the clinical spectrum of inherited periodic corneal inflammation, Keratitis fugax Hereditaria (KFH) in @AJOphthalmology 1/n
https://t.co/XFiW1X2mfa

[Joni Turunen @joniturunen]

KFH is only reported from Finland, but allele frequencies suggest (gnomad) that KFH goes unrecognized in Sweden and populations with Scandinavian heritage. 6/n