40 individuals with the clinical picture of FOXG1 syndrome and a completely intact FOXG1 gene. So what’s going wrong then? Our new paper in @natcomms.nature.com traces the answer to a stretch of non-coding DNA 665 kb away from the gene. (1/7)
Sarah Vergult
@svergult.bsky.social
PI of the Functional Genomics lab (https://fungenlab-ugent.be/) at Ghent University. Elucidating the genetics of neurodevelopmental disorders. Special interest in the role of the non-coding genome during neurodevelopment.
Also looking forward to this meeting!!
Looking forward to the 20th Troina meeting on the genetics of neurodev disorders in Sicily 🌋 Kudos to the organizers for the 🤯speakers lineup (on 🦋: @sbaulac.bsky.social @naelnadifkasri-lab.bsky.social @girirajan.bsky.social @svergult.bsky.social) meeting2026.oasi.en.it Cc @simonsfoundation.org
Two weeks ago, Lukas (PhD student) and I had the opportunity to attend the iPSC Keystone meeting in Japan. Not only did Lukas deliver a great presentation, the meeting was also a great chance to reconnect with old faces and meet new ones. We even found some time to explore Kyoto and Tokyo 🇯🇵⛩️✨!
Last Friday, I had the privilege to present the latest FunGen Lab work at the Symposium of the Marguerite Marie Delacroix Foundation. This symposium brings together researchers working on neurodevelopmental disorders, creating an inspiring environment. Grateful to be part of this community 🌟.
👇 Highly recommend applying if you want to join a great team and work on a high-profile, inter-university project! #postdocjobs
📣Job Alert: We are looking for a postdoctoral researcher with hands-on experience in neural tissue culture, preferably neural organoids, for a collaborative project on Alzheimer's disease and MS between KULeuven, UHasselt and UGent in Belgium. Deadline August 31: www.ugent.be/en/work/scie...
📣Job Alert: We are looking for a postdoctoral researcher with hands-on experience in neural tissue culture, preferably neural organoids, for a collaborative project on Alzheimer's disease and MS between KULeuven, UHasselt and UGent in Belgium. Deadline August 31: www.ugent.be/en/work/scie...
Postdoctoral fellow
ugent.be
📣 In our recent study, we present a minimally invasive RNA-seq protocol using short-term cultured peripheral blood mononuclear cells (PBMCs), with and without cycloheximide treatment. A big shout-out to Laurenz and Erika who were instrumental in carrying out the study! www.nature.com/articles/s41...
Cracking rare disorders: a new minimally invasive RNA-seq protocol - npj Genomic Medicine
npj Genomic Medicine - Cracking rare disorders: a new minimally invasive RNA-seq protocol
nature.com
Excellent talk by my colleague @elfridedebaere.bsky.social on cis regulatory elements in eye diseases at #eshg25. If you did not attend her session, I highly recommend to watch it on the virtual platform. Enhanceropathies research at Ghent University is on 🔥
Excellent flash talk by #FunGen PhD student @lisahamerlinck.bsky.social ! If you missed it, you still have the chance to check out her poster P10.003 tomorrow between 16:00-17:00. #eshg25
@lisahamerlinck.bsky.social kicking ass at #eshg2025 Sharing work on non-coding regulatory disruptions of FOXG1. #FunGen @svergult.bsky.social @eedhaene.bsky.social
If you are interested in a postdoc position on neural organoids in the lovely city of Ghent, Belgium, and happen to be at #eshg25, feel free to come and have a chat with me. Or, if you know other interested people, feel free to share with them.
📣Job Alert: We are looking for a postdoctoral researcher with hands-on experience in neural tissue culture, preferably neural organoids, for a collaborative project on Alzheimer's disease and MS between KULeuven, UHasselt and UGent in Belgium. Deadline: June 23 Link: www.ugent.be/en/work/scie...
🗣️ Quote of #ESHG2025 (so far) "Who licks bone !?!" 🦴 - Johannes Krause Anyone have that on your bingo card? Well apparently archeologists do, to distinguish bone from stones and it causes problems in DNA sequencing. 🤔
On my way to #eshg25! If you are interested in the work we do at the FunGen lab, check out the flash talk on Sunday and poster on Monday by @lisahamerlinck.bsky.social or come and have a coffee with team members @michael-b-vaughan.bsky.social, @eedhaene.bsky.social or me. Hope to see you there!
📣Job Alert: We are looking for a postdoctoral researcher with hands-on experience in neural tissue culture, preferably neural organoids, for a collaborative project on Alzheimer's disease and MS between KULeuven, UHasselt and UGent in Belgium. Deadline: June 23 Link: www.ugent.be/en/work/scie...
Postdoctoral fellow
ugent.be
Really enjoying Neurogenomics25 @humantechnopole.bsky.social Excellent space, excellent talks, excellent coffee! I'll be sharing some of our research ( @svergult.bsky.social ) on the ability of Clinically Accessible Tissues to accurately reflect neuronal gene regulation ( poster #66) #neurogen25
If you are at the Neurogenomics conference in Milan, go and check out the posters of @eedhaene.bsky.social and @michael-b-vaughan.bsky.social. #neurogen25
Looking forward to exciting science and to connect with colleagues in Milan at the Neurogenomics conference @humantechnopole.bsky.social Presenting our research ( @svergult.bsky.social @lisahamerlinck.bsky.social ) on noncoding variants in the FOXG1 locus during the poster session (#88) #neurogen25
Paper Alert!! Last year we reported on ZFHX3 loss of function (LoF), today we report that also ZFHX4 LoF is associated with an NDD. Great collaboration the ZFHX4 consortium, excellently led by María del Rocío Perez Baca and María Palomares. As always great collab with co-supervisor Bert Callewaert.
📣New from @svergult.bsky.social & co 📄Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder
Final talk of this year's #GRD25 conference, also selected from submitted abstracts, is Eva D'haene from Ghent University talking about "Non-coding structural variants disrupt a critical regulatory region steering FOXG1 transcription during early neurodevelopment"
📣 New preprint from the FunGen lab, see below 👇👇👇! This research was led by two incredible ladies in my lab, postdoctoral researcher @eedhaene.bsky.social and PhD student Lisa Hamerlinck. Nice to see how a team effort of years finally came together. If you want to know more, read Eva's 🧵 below.
📢 New preprint from the FunGen lab @svergult.bsky.social on how non-coding structural variants disrupt FOXG1 regulation during early neurodevelopment. Great teamwork from Lisa Hamerlinck and everyone in the lab! Thread below👇 www.medrxiv.org/content/10.1... #GeneRegulation #RareDisease #Epigenomics
Today is #rarediseaseday2025 Rare diseases are rare, but there are many people living with a rare disease. By brighten up our workplace with shades of pink, blue, green, and purple 🩷💙💚💜 we, the FunGen team, want to help raising visibility for rare diseases. #ShareYourColours
To all great women in science: Happy #WomenInScienceDay! Glad to have met many great female scientists and hope to meet many more 🥰!
Marie Sklodowska Curie was the first woman to receive a #NobelPrize and the first person to receive the honor twice. In 2017, #ScienceBooks explored the dynamics that established Curie as “the most iconic of all female scientists.” #WomenInScienceDay
Prof Joe Marsh and I have a PhD project as part of the 2025 Edinburgh Doctoral College Scholarship: "Integrating AI, Biophysical Modelling and Experimental Validation for Enhancer Variant Interpretation". Closing date for applications is 25 April 2025. Please get in touch if you are interested! 🧬🧠
Edinburgh Doctoral College Scholarship
Applications now open for 2025 intake
institute-genetics-cancer.ed.ac.uk
Now out in @science.org w/ @jshendure.bsky.social we present 'Genome-shuffle-seq': a method to shuffle mammalian genomes and characterize the impact of structural variants (SVs) with single-cell resolution in one experiment. www.science.org/doi/10.1126/...
Multiplex generation and single-cell analysis of structural variants in mammalian genomes
Studying the functional consequences of structural variants (SVs) in mammalian genomes is challenging because (i) SVs arise much less commonly than single-nucleotide variants or small indels and (ii) ...
science.org
As always, great meeting!! 👇🏻👇🏻
Together with @smandrup.bsky.social and Minna Kaikkonen we are happy to announce the 3rd Edition of the EMBO Workshop on #Enhancers and #Enhanceropathies. This time we will meet during the beautiful Danish summer (June 16-21). Book the dates and register soon!!! meetings.embo.org/event/25-enh...
I want to provide an overview and perspective of rare disease genomic testing, which is a real success story of science impacting health - a science which goes back over 100 years and yet is still striding forward and much more to come.
Christmas lunch @FunGenLab 👉🏻 Combining what we love the most: Great food 🍜 and discussing great science 🧠! A big shout out to our master students for their excellent presentations 👏🏻, well done!
🌟 Yesterday, the FunGen lab was present @ the Marguerite-Marie Delacroix's Conference on "Current Directions in Autism Research and NDDs". 🌟 Nore rocked her poster presentation concerning organoids & @eedhaene.bsky.social gave an excellent talk on our 3D genome research. 👏 Go Team FunGen! 👏
We're looking for a talented scientist 👩🔬👨🔬to join our group @stjude.bsky.social! Help us develop/characterize #stemcell/#organoid models of #raredisease #epilepsy disorders. 🧠🧬🧠🧬 Details below - join us! talent.stjude.org/careers/jobs...
Lead Researcher / Scientist - Mefford Lab in Memphis, Tennessee | St. Jude Careers
St. Jude Careers is hiring a Lead Researcher / Scientist - Mefford Lab in Memphis, Tennessee. Review all of the job details and apply today!
talent.stjude.org