Delighted I could join the symposium "Of Cells & Embryos", celebrating @amartinezarias.bsky.social's work. Gaudi's Pedrera was the perfect setting. Alfonso opened doors, brought light, and offered new perspectives. (His book, The Master Builder, is excellent. Conversations with him are even better.)

Delighted to announce the publication of a collaborative effort, co-led by @limorraviv.bsky.social @mpi-nl.bsky.social, showcasing the ways in which researchers have made language evolution an empirical issue: A handbook of experimental approaches to the fascinating problem of language evolution 🧪

I think it’s pretty neat to see the way in which a single nucleotide variant in a regulatory region contributed to setting the pace of neuronal development and maturation in Homo sapiens

One more cool finding: we show that the evo-relevant regulatory variant variant modified the way in which CHD2 is modulated by estrogen (stronger binding affinity in sapiens)

In our case, it was interesting to see how, when the control line was catching up with the ancestralized line in one parameter, a difference in another parameter emerged

Work led by @ellylewerissa.bsky.social shows a clear effect of CHD2 dosage on developmental timing of cortical neurons: transient differences in neurite length and neurite arborization complexity; transient differences in synapse development and spontaneous neuronal activity.

Work led by @olivieroleonardi.bsky.social on organoids, grown over 3 months, shows important cell cycle differences: reduced CHD2 dosage accelerates differentiation and depletes the proliferative pool, while increased dosage boosts neurogenesis, with a marked effect on deep-layer neuron production.

1st cool finding: CHD2 deficiency impairs lysosomal acidification and autophagosome flux.
2nd cool finding: ancestralized lines express higher levels of CHD2, exhibit enhanced lysosomal function & consequently accelerated autophagosome flux. This is consistent with what we found in chimp lines:

The variant is predicted to significantly affect CHD2 expression, a chromatin remodeller known to play an important role in neural development: CHD2 haploinsufficiency is associated with epilepsy and autism

New preprint 📣! Excited to share the result of several years of work, led by @ellylewerissa.bsky.social & @olivieroleonardi.bsky.social, in collaboration with friends @naelnadifkasri-lab.bsky.social & Giuseppe Testa. On CHD2, a chromatin remodeller, its role in evolution & development [🧵]
🧪🧠🧫🧬

Very happy @ellylewerissa.bsky.social & @naelnadifkasri-lab.bsky.social are presenting our collective effort (co-led by O. Leonardi from G. Testa’s lab) to capture the role of CHD2 dosage in neurodevelopment (for disease & evolution), using organoids + 2D neurons #cshl2024brain (Poster 111, today!)

Gearing up for the great CSHL 🧠 🧫 meeting next week.
Very happy @paulaespa.bsky.social will present the good progress she has made on the molecular mechanisms underlying 1q21 disorders (a region of special interest also for evolution) — focusing on the role of myomegalin in neural development 🧪

Re-reading this excellent review by E. Klingler, F. Francis, @djabaudon.bsky.social @silvianeuro.bsky.social, highlighting the complexity of the developmental process underlying phenotypic variability (‘From development to disease’).
www.science.org/doi/10.1126/...

🗓️ Mark your calendar: May 19-21, 2025
There will be a great #neurogenomics conference @humantechnopole.bsky.social in Milan (@harschnitz.bsky.social ‬ is one of the organizers). Grateful to have been invited alongside (some joined 🦋 recently):
@silvianeuro.bsky.social @sergiuppasca.bsky.social 1/

First post on this platform 👋. Glad to reconnect with old friends, and also learn from new contacts. Will post about intersecting themes: human evolution, genetics (esp. aDNA), neuroscience & cognition. Currently focusing on brain organoids and early developmental changes that may have had an impact