Wendy Jones

Development's Pathway to Independence Programme Our grants support and encourage the sharing of knowledge throughout the community by facilitating international collaboration, event attendance and the organisation of scientific meetings, conference...

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.

Huntington's disease successfully treated for first time One of the most devastating diseases finally has a treatment that can slow its progression and transform lives, tearful doctors tell BBC.

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

Behavioral profiles and social relationships in Wiedemann–Steiner syndrome: parent reports on 25 cases - Orphanet Journal of Rare Diseases Background Wiedemann–Steiner syndrome (WSS) is a rare, variable neurodevelopmental condition associated with developmental delay, intellectual disability and congenital abnormalities. There are few in...

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

Emily Anderson standing by a lectern, in a hotel ballroom with an ornate ceiling. The title on the presentation displayed starts with Cleft Genetics.

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.

Thanks for an excellent talk.

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

Research When it comes to clefts, there is still so much that is unknown. A core principle of CLEFT is to invest in research projects that study the cause and treatment of clefts. Clinical research is not usua...

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...