Kym Boycott #ESHG2025 What is matchmaking One? Two? Zero? sided Why do we do it (see the photo below ☺️) 👍👍@deciphergenomics.bsky.social second largest contributor to MatchMaker Exchange ❓sadly, 94% of genematcher entries have no phenotype DECIPHER is much better

Kym Boycott #ESHG2025 Disease-Gene discoveries are falling 😲 Don't tell DiseaseGenes bot! 🤖 #MorbidGene In all seriousness, I suspect that conditions associated with each gene are growing - we are in a phase of understanding of gene pleiotropy

15k+ genes are currently in GeneMatcher. Kym encourages to share more than gene name & add phenotype & zygosity of your variant to reduce email load. #ESHG2025

Vicente Yepez #ESHG2025 Rare Disease multi-OMICs Solvathons - a disease solving hackathon - make sure you have consent to share Integrated multi-omics in parallel is best DNA-RNA & DNA-proteomic parallel approaches both ⬆️ diagnoses 10-15% (many refs)

Almost full in Skeletal disorders session! #ESHG2025

Chofit Chai #ESHG2025 Loss of CELSR1 and impaired Wnt/planar cell polarity signaling cause yellow nail syndrome

Eike Bolmer #ESHG2025 🩻 Bone2Gene-Screen: AI-Augmented Early Detection of Rare Bone Diseases ✋Using hand x-ray 🔴 Occlusion testing allows important region within the image to be defined (see below)

Hristiana Lyubenova #ESHG2025 The absence of an enzyme-rescue metabolite as the cause of Catel-Manzke syndrome A deep dive into uncovering the mechanism of this well-recognised condition

Gozde Imren #ESHG2025 Unraveling the Role of #RSPRY1 in TGF-β Pathway Dysregulation: Insights into the Pathogenesis of Spondyloepimetaphyseal Dysplasia

Edu Calpena #ESHG2025 edu calpena.bsky.social Ectopic SIX3 expression underlies the craniofacial syndrome caused by deletions at the SIX2 locus "Ectopic expression of SIX3 in the SIX2 territory" 2p21 deletions with TAD disruption shown below

Mathilde DOYARD #ESHG2025 Starting with information that TBXAS1 disorders ⬆️ bone density 💊Could it be a target to treat bone fragility disorders such as OI? thromboxane synthase (TXAS) inhibitors in 🐭 studies ⬆️ bone formation ⬆️ biomechanical profiles Patients next?

GertJan van Ommen Citation Awards: 1. Analysis of large-language model versus human performance for genetics questions. 2. Dutch Pharmacogenetics Working Group (DPWG) guideline 3. Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing #ESHG2025

#ESHG2025 Mia Neri Award for best presentation in cancer research. Jingzhan Lu,Exeter, United Kingdom "Predicting prostate cancer by combining Prostate Specific Antigen (PSA) test results with Genetic Risk Scores (GRS)"

Great work Allison!

📢Clinicians: This is your last chance to lead the development of new Unique Information Guides for rare genetic neurodevelopmental disorders using a cutting-edge AI solution. Final deadline: 6ᵗʰ June. Submit your proposal here: forms.office.com/e/jziupyz04f 🔗mrcc.org.uk/news/2994/

Just testing integration across platforms for DiseaseGenes, please bear with me #MorbidGene

We are excited to share our new paper out today in Nature Genetics which explores de novo mutations in DNA secondary structure and identifies two novel #diseasegenes nature.com/articles/s4158…

RNU2-2 and RNU5B-1 are novel NDD #MorbidGene/s 👇

Now in print - thanks for your work helping patients alistair pagnamenta “Research like this that finds new routes towards more people getting diagnoses is fantastic. It means people can actively try and prevent some of the most dangerous complications of #Marfan syndrome"

18 additional Genome Aggregation Database short tandem repeats are now displayed; 9 recently discovered and 9 which are not currently linked to rare diseases but have historically appeared in various catalogs as suspected disease-causing loci.