⸻ 🧬 JUST PUBLISHED! Our latest meta-analysis is out in the American Journal of Medical Genetics – Part A! We compared the diagnostic yield of genome sequencing (WGS) vs exome reanalysis (WES) in children with rare diseases. 👇 🔗 doi.org/10.1002/ajmg.a…

👶🏽 We analyzed over 1600 children with negative exome sequencing results to evaluate which strategy performs better for uncovering genetic diagnoses. 📌 Key findings: • WGS provided an additional diagnosis in 7% of cases • WES reanalysis achieved a 14.2% diagnostic yield

💡 What does it mean in practice? WGS can serve as a valuable complementary tool, especially after a negative exome. Yet periodic reanalysis of WES remains an effective and more accessible option in many settings.

🧠 Honored to serve as senior author on this work, alongside a brilliant team I’m proud to mentor and collaborate with. #Genetics #RareDiseases #Genomics #WGS #WES #MetaAnalysis #Pediatrics #GeneticTesting #PrecisionMedicine #AJMG #NGS

It’s officially started! #ESHRE2025 has just kicked off in Paris 🇫🇷 — bringing together the world’s leading minds in reproductive medicine. Excited for days filled with science, collaboration and innovation! #ReproductiveHealth #Genetics #Fertility

Kicking off with today’s Precongress Course: 🧬 Genetic causes of reproductive failure and their consequences on health A full day of insights into monogenic infertility, new gene discoveries, and future directions. #Genetics #Fertility #ReproductiveMedicine

First session of #ESHRE2025 Precongress Course underway in Paris 🇫🇷! Dr. Özlem Okutman opens the day with a brilliant talk on: 🧬 Monogenic gene–disease relationships in female infertility and DSDs #Fertility #Genetics #DSD #ESHRE

🧬 Male infertility & genetics at #ESHRE2025: 300 genes linked to male infertility, but only 104 have strong evidence for clinical panels. New data on globozoospermia, CFTR-related obstruction & exome insights in NOA. Game-changing advances! #Andrology #Genomics #Fertility

🔬 Genetics & early pregnancy loss at #ESHRE2025! In a brilliant precongress session, Prof. Andres Salumets shared how genomic aberrations, maternal age, and microbial dysbiosis are key factors in miscarriage. Non-invasive POC analysis & BEVs are emerging tools to watch! 📍Paris

#ESHREJC organised Scientific Speed Dating, as you can see in video and voice people are getting new connections with Junior and Senior colleagues from field. Great event #eshrejc. The ESHRE 5 ESHRE

Scientific Speed Dating Group. Thank you #eshrejc for this event. The ESHRE 5 ESHRE #eshre2025

📍 Live from #ESHRE2025 In Andres Salumets’ session, genetics took center stage in 1st trimester pregnancy loss: 🔬 60% of POCs show chromosomal abnormalities 🧓 Maternal age = key risk factor 🧬 Up to 90% of IVF embryos are mosaic 🧪 cfDNA & dysbiosis = promising frontiers

📊 Just attended the PGT Consortium session ESHRE 2025 – packed with key updates! Highlights: ✅ Clinical pregnancy rate per transfer keeps improving 🔍 95.4% of embryos successfully diagnosed (2023) 🧬 Blastocyst biopsy remains dominant 📈 PCR is still the leading PGT-M method

🔬 At #ESHRE2025, Dr. Olga Tsiuko (UZ Leuven) presented a powerful comparison of WGS vs SNP-array & GBS-RRS in PGT. ✅ WGS stands out in: •Resolution (SNVs, indels, CNVs) •PGT-M, PGT-A & PGT-SR accuracy •Detection of de novo mutations •Emerging use in polygenic risk scores

🧬 From the first IVF baby to WGS replacing SNP-array in PGT, here’s what’s new: 🔹 WGS = true all-in-one: PGT-M, PGT-AO, PGT-SR, mtDNA 🔹 Detects aneuploidies, translocations & de novo variants 🔹 5–10x coverage enough for most variants; 30x for de novo

📊 Male infertility & cancer risk — insights from large cohorts (Michael Eisenberg, Stanford @ #ESHRE2025) 🔸 Testis cancer risk ↑ with abnormal semen parameters

🔸 SIRs: ‣ Low sperm conc. → SIR 2.3 ‣ Poor motility → SIR 2.6 ‣ Abnormal morphology → SIR 1.3 🔸 Prostate cancer risk ↑ in male factor infertility (SIR 1.3) 🧬 Infertility is more than fertility — it’s a health marker. #MaleInfertility #CancerRisk #ReproductiveHealth

Accepting applications until August 18: The Human Genetics Scholars Initiative! This program equips trainees, post-docs, & early-career researchers to make an impact through mentorship, funding, and exclusive access to #ASHG resources and events. Apply: bit.ly/40iRMIk

🚨 New paper out! We conducted a systematic review & meta-analysis on idebenone for LHON (Leber hereditary optic neuropathy) and found a significant visual benefit (mean LogMAR −0.32). Proud to be first author! 🧬 Published in Ophthalmic Genetics 🔗 doi.org/10.1080/138168…

Our meta-analysis (5 studies, 375 pts) showed that idebenone significantly improves visual acuity in LHON (LogMAR gain −0.32; 95% CI −0.50 to −0.15). ⬆️ Equivalent to ~1.5–5 lines on the visual scale!