Applications are open for @dev-journal.bsky.social 2026 Pathway to Independence (PI) programme, supporting postdocs applying for group leader positions: Mentoring Profile raising Leadership training Network building Spread the word... www.biologists.com/grants/devel...

🧠🧲 BRAIN-MAGNET: A functional genomics atlas for interpretation of non-coding variants 💡 Fantastic initiative from the Barakat Lab 👀 Great to have a sneak peak at #MDC25 🧬 Predicts enhancer activity from DNA sequence 🕵️‍♂️ Prioritises functional non-coding variants 👇🧵 Check it out

20th Manchester Dysmorphology and Developmental Disorders Conference opened with a warm welcome from @mft-imrare.bsky.social clinical director Prof Banka Celebrating the history of the conference, we were treated to a glimpse of the original 1984 programme curated by @ddysmo.bsky.social 👑🧬 #MDC25

Congratulations @hilarycmartin.bsky.social So well deserved!

Neanderthal-derived variants increase SOX9 enhancer activity in craniofacial progenitors that shape jaw development

Charlotte Wilmshurst #BSGM2025 Inconsistency in naming of genetic conditions causes challenges for those affected, including barriers to support. @uniquecharity.bsky.social highlighted that many families prefer the use of eponymous names. guidelines for naming practices in progress.

#BSGM2025 What an impressive start, Serena Nik Zainal opens the morning. The dark genome session highlights the importance of small non coding RNAs, TAADs, last exon frameshift variants and X inactivation when diagnosing and understanding rare diseases.

www.bbc.co.uk/news/article....

We are very excited to be celebrating #undiagnosedchildrensday 2025 @GOSH with @roalddahl.bsky.social, @swanuk.bsky.social & @spreadasmile to raise awareness of this group of patients & offer more support to families of SWAN children/young people @wendydjones.bsky.social @becksbdaniels.bsky.social

Just out …. Our paper on Behavioural profiles and social relationships in Wiedemann-Steiner syndrome ojrd.biomedcentral.com/articles/10....

Emily Anderson Introducing …Genetics: A new Clinical Excellence Network (CEN) for Cleft Care in Great Britain and Northern Ireland. At Clinical genetics Society Conference (CGS) conference 2025. A pleasure to work with @clapacommunity.bsky.social and @cleftcollective.bsky.social and others.

Many congratulations Wendy! Really excited to work together to explore the genetics of orofacial clefting.

I am totally over the moon to have received a grant from CLEFT to research genetic causes of orofacial clefting. Delighted to work with @hannahlong.bsky.social @helenvfirth.bsky.social www.cleft.org.uk/pages/catego...