Drosophila #WDFY3/Bchs overexpression impairs neural function. Currently, more studies are focusing on the loss of WDFY3/Bchs & its effects on the nervous system ➤ tandfonline.com/doi/full/10.10… by Julia Hentschel Rami Abou Jamra Diana Le Duc, etc. #neurogenetics

Tomorrow is CHAMP1 Awareness Day! 💜 The big day is almost here! On March 20th, we come together to raise awareness for CHAMP1 and celebrate our incredible CHAMP1ONs. #CHAMP1AwarenessDay #CHAMP1Community #RareAndMighty

Heute um 16.00 Uhr findet das 11. Kolloquium der #Humangenetik statt. Prof. Dr. med. Steffen Syrbe spricht zum Thema: „Wachstumskontrolle und Hirnentwicklung – Zentrale Stoffwechselwege im Kindesalter". Hier können Sie an der Besprechung teilnehmen: is.gd/dvyisd 🖥️

This week we welcomed our very good collaborator Steffen Syrbe who gave us an overview on epilepsy syndromes due to variants in the MTOR & RAS/MAP kinase signaling pathways & the increasing treatment options. Dinner together later on closed out the evening. Thanks for the visit!

There has been a 🆕 Investigation of #ATM #missenseVariants of uncertain significance (#VUS) by integrating results from systematic functional tests into an acmg point-based framework - check it out: is.gd/XT33Zm #moderaterisk #cancer #susceptibility #gene Julia Hentschel

MBOAT7 encephalopathy: Characterizing the #neurology and #epileptology. We aimed to characterize the epilepsy phenotype in a cohort of patients affected by this #syndrome (15 patients with biallelic #MBOAT7 variants). ↪️ pubmed.ncbi.nlm.nih.gov/40116760/ Robin Jauss, Konrad Platzer

On our way to Innsbruck! 🚀 #GfH2025

Now Ilona Krey of Institut für Humangenetik 🧬 | Uniklinik Leipzig presents her project on elderly patients with developmental & epileptic encephaloathy. Used exome seq of 1048 elderly patients (2016-2024), also incl. sanger seq of RNU4-2 in unsolved cases. Diagnostic yield of 37 %. #GfH2025

Final talk by Franziska Schnabel of Institut für Humangenetik 🧬 | Uniklinik Leipzig on real added value of srGS in diagnosing rare diseases compared to exomes. Meta-analysis of own cohort of 500 cases & published cases (2000+) results in a 5% added value in srGS. Aligns w/ other talks at this conference. #GfH2025

Happy to finally share our latest Mendelian gene discovery work on #KDM2A where de novo variants cause a syndromic neurodevelopmental disorder. A great collaboration incl. lab of Udai Pandey, Stephan Drukewitz Dr. Heather Mefford @hcmefford.bsky.social & many more. 👇 #MorbidGene medrxiv.org/content/10.110…

Exciting ClinVar Charts for 2025 Q1: in total >1k new submissions. Köln zieht an Erlangen vorbei. Hannover deklassiert Berlin. Düsseldorf überholt knapp Aachen. Und auch am Tabellen Ende tut sich was mit zwei Neulingen aus Ulm und Greifswald!

📢 We're hiring (again!) – a doctor in training! Active participation in direct human genetic patient care 💙 Deadline: Tuesday 20th May 2025. Apply online here: bewerberportal.uniklinikum-leipzig.de/bewerberportal…

🆕Biallelic loss-of-function variants in #ZNF142. Our findings provide evidence that biallelic loss-of-function ZNF142 variants result in a specific and robust DNAm signature: nature.com/articles/s4143… 🔛nature by Ilona Krey, Konrad Platzer, Rami Abou Jamra

Hypothesis-free DNA 🧬methylation profiling in a 66-year-old male with unexplained neurodevelopmental disorder enabled the exclusion of ZNF142-related disease. #angelman #syndrome AngelmanSyndromeFdn PubMed Online🔵pubmed.ncbi.nlm.nih.gov/40518603/ by Konrad Platzer, Rami Abou Jamra & Ilona Krey👥

JCI - Mutations in spliceosomal gene #SNW1 cause neurodevelopment disorders with microcephaly jci.org/articles/view/… by Rami Abou Jamra, etc.

Pathogenic #XPO1 variants cause a dominant neurodevelopmental disorder. The gene is deleted in a subset of patients with the 2p15p16.1 microdeletion syndrome, however no monogenic XPO1-related disorder has been described to date. Results here: shorturl.at/MbvUn, Rami Abou Jamra

Three new unrelated cases of #CEP85L-associated LIS are presented, including the first prenatal diagnosis and a mosaic variant. Clinical, neuroimaging, and genetic analyses were recorded. Overview and expansion of CEP85L here: sciencedirect.com/science/articl… Rami Abou Jamra, Robin Jauss, etc.

Here are our latest publications from last week: ▶️jci.org/articles/view/… #PTBP1 variants displaying altered nucleocytoplasmic ▶️jci.org/articles/view/… Disrupting Integrator complex subunit #INTS6 by Konrad Platzer & Rami Abou Jamra

Dear patients, dear correspondents, due to a power outage caused by the network operator, we will not be available by phone on October 7 and 8, 2025. Email inboxes will be processed again starting on October 9. Thank you for your understanding! Best regards, Human Genetics Team

We finally published our study on early-onset #schizophrenia and other mental disorders due to #GRIN2A null variants including potential precision #therapy in Molecular Psychiatry doi.org/10.1038/s41380…