GoOD Meeting abstract submission deadline extended until 31 July! There is still time to submit an abstract!

The +57C>T substitution in microRNA-184 is associated with microphthalmia, retinal detachment, and altered ocular development https://www.medrxiv.org/content/10.64898/2026.06.25.26355554v1

Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies #RareDisease #Genetics #morbidgene www.cell.com/ajhg/abstrac...

Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies

CDK20 is a ciliary kinase not previously linked to human disease. Lemire et al. report seven individuals with bi-allelic CDK20 variants, midline brain and facial anomalies, and impaired cilium formati...

cell.com

The #eshg2026 starts tomorrow morning. You can still register until June 16 for in-person participation. Enjoy all sessions live in Gothenburg, online from wherever you are or on-demand after the conference, whenever it suits you. 2026.eshg.org/registration/ #genetics #genomics

📢 Structural variants disrupting PITX2 from its enhancers linked to Axenfeld-Rieger Syndrome highlight the importance of non-coding structural variants in genetic diagnoses. 🧬 🔗 Read more: www.nature.com/articles/s41...

Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld–Rieger syndrome - European Journal of Human Genetics

European Journal of Human Genetics - Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld–Rieger syndrome

nature.com

🧬The first dataset pairing WGS with high-depth RNA-seq from key retinal tissues has been released. 👁️This resource reveals how common and rare genetic variation regulates retinal gene expression, offering new insights into retinal disorders. Full paper: www.nature.com/articles/s41...

Ophthopedia Update: Posterior microphthalmia related to PRSS56 variants in a Saudi cohort: a longitudinal study of visual function: To report clinical, multimodal imaging, electrophysiologic, and genetic findings in a cohort of patients with posterior… #Ophthalmology #Eye #Ophthotwitter

Intragenic loss-of-function variants in transcription factors MAZ, FOXP1 and SIN3B in colobomatous microphthalmia #RareDisease #Genetics #morbidgene jmg.bmj.com/content/earl...

Intragenic loss-of-function variants in transcription factors MAZ, FOXP1 and SIN3B in colobomatous microphthalmia

Despite the identification of many genes involved in developmental eye phenotypes, a large percentage of families lack genetic diagnoses, suggesting novel mechanisms remain to be discovered. Large del...

jmg.bmj.com

A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine #RareDisease #Genetics www.cell.com/ajhg/abstrac...

A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine

A next-generation KMT2D episignature, defined using the largest Kabuki syndrome type 1 cohort to date, can be used to map pathogenic variants using array or long-read platforms, to improve missense va...

cell.com

Excited to share our new manuscript! Why do people with Bosma #arhinia microphthalmia syndrome (BAMS) not form noses? We show that #iPSCs from these patients are less able to form cranial placode cells, one of the cell types that make up the nose. www.cell.com/stem-cell-re...

Cranial placode differentiation defect in individuals born without a nose

Xue and colleagues show that iPSCs from Bosma syndrome (BAMS) individuals have a reduced capacity of differentiation into cranial placode cells and the subsequent lens and olfactory lineages. These ce...

cell.com

🧬 Abstract submissions are now open for #ASHG26 Share your discoveries, connect with the global human genetics and genomics community, and help drive real‑world impact. Submissions are due May 18. Submit now: ashgmeeting.ashg.org/programs/abs...

KDM2B or Not to Be 👀 Are structural eye anomalies part of the KDM2B clinical spectrum? We report 2 new cases with variants in the CxxC domain and congenital eye anomalies, supporting inclusion of KDM2B in diagnostic panels for #anophthalmia #microphthalmia #coloboma www.nature.com/articles/s41...

How do YAP1 variants cause ocular coloboma? 👁️ Coloboma is a congenital eye disorder caused by a tissue fusion defect, affecting ~1 in 5000 births and leading to visual impairment.

Excited to participate in this meeting. Promises to be a very interesting event, consider joining us!!

eyegenes.bsky.social@eyegenes.bsky.social · 4mo ago

We are looking forward to invited talks from @michelcayouette.bsky.social (McGill University, Montreal, Canada), Elise Heon (Sick Kids Hospital Toronto, Canada) and Brian Brooks (National Eye Institute, Bethesda, Maryland, USA)!

The 7th GoOD (Genetics of Ocular Development) Meeting will take place in Montreal, Canada on 19 and 20 October 2026, ahead of the ASHG annual meeting. More information on www.goodsoc.org