📣 Big news! Our tag-team effort on common variants in rare neurodevelopmental conditions is now out in Nature 📣 Co-first authoring with the brilliant Qinqin Huang🌟—proof that teamwork does make the dream work. 💪 www.nature.com/articles/s41... - ThreadSky

emiliewigdor.bsky.social • 100 days ago

📣 Big news! Our tag-team effort on common variants in rare neurodevelopmental conditions is now out in Nature 📣

Co-first authoring with the brilliant Qinqin Huang🌟—proof that teamwork does make the dream work. 💪 https://www.nature.com/articles/s41586-024-08217-y

Comments

sarahbriggs.bsky.social•93 days ago

Ooof great work Emilie!! Congrats!

emiliewigdor.bsky.social•93 days ago

Thanks, Sarah!!

fbeghini.bsky.social•99 days ago

Congratulations! We got published in the same Nature issue as well!

emiliewigdor.bsky.social•98 days ago

Thank you - and congratulations to you, too! What a great coincidence!

nickywhiffin.bsky.social•100 days ago

Woohoo 🎉 congrats to you, Qinqin, @hilarycmartin.bsky.social , and the whole team!!
#dreamTeam indeed 🤩

Also tagging to 🧪🧬🖥️🩺

emiliewigdor.bsky.social•98 days ago

Thanks, Nicky!! 😊

tincatwin.bsky.social•99 days ago

Great work! Love the FAQ 💜

emiliewigdor.bsky.social•98 days ago

Thanks, Tinca! So glad you like the FAQ!! 😊

tincatwin.bsky.social•99 days ago

@wonuola.bsky.social

tincatwin.bsky.social•99 days ago

@mmdewit.bsky.social

tincatwin.bsky.social•99 days ago

@dr-appie.bsky.social

emiliewigdor.bsky.social•100 days ago

This paper covers concepts that aren’t usually discussed in the context of rare (single-gene) conditions. We included EasyRead and lay summaries, as well as an FAQ—written with input from patients and families. Find them in Supplementary Note 1!

emiliewigdor.bsky.social•100 days ago

While rare neurodevelopmental conditions have a large Mendelian component, common variants also contribute to risk in the Deciphering Developmental Disorders (DDD) study. But what role do they play? https://www.nature.com/articles/s41586-018-0566-4

emiliewigdor.bsky.social•100 days ago

We combined data from DDD and the Genomics England 100,000 Genomes project. Altogether we looked at 11,573 patients with rare neurodevelopmental conditions, 9,128 of their parents and 26,869 controls from UKHLS, ALSPAC, and the Millenium Cohort Study.

emiliewigdor.bsky.social•100 days ago

We looked at how polygenic risk is distributed among different groups of patients and their parents, its interplay with rare variants, and how parents’ polygenic background contributes to their child’s risk beyond the direct effect of variants transmitted to the child.

emiliewigdor.bsky.social•100 days ago

One of our key findings: patients with a monogenic diagnosis had lower polygenic risk than those without, consistent with a liability threshold model.

emiliewigdor.bsky.social•100 days ago

Another striking result: non-transmitted risk-associated alleles from parents are associated with a child’s chances of developing these conditions. Is this genetics working through the family environment? Or something else, like parental assortment? Both?

szen.bsky.social•100 days ago

Many congratulations to you and the whole team Emilie!! 🎉

emiliewigdor.bsky.social•98 days ago

Thanks, Szen!! 😊

ruebenadawes.bsky.social•100 days ago

Congrats Emilie! Such a beautiful paper!

emiliewigdor.bsky.social•98 days ago

Thanks, Ruby!! 😊

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