Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions Nature Communications - Here the authors investigate the underlying genetic mechanisms for pathogenic variant carrier phenotype heterogeneity using exomes and clinical phenotypes from the UK and...

Major props to Angela Wei, our first author and grad student, who drove the project from data to discovery!
rdcu.be/epzLx #Genomics #PhDlife #Science

18.06.2025 22:09 — 👍 3    🔁 0    💬 0    📌 0

Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions Nature Communications - Here the authors investigate the underlying genetic mechanisms for pathogenic variant carrier phenotype heterogeneity using exomes and clinical phenotypes from the UK and...

🎉 Just published in Nature Communications: why carriers of the same pathogenic variant can have wildly different outcomes.
We untangle three genetic factors—variant impact (ESM1b), polygenic risk scores, and genetic interactions (epistasis).

18.06.2025 22:09 — 👍 4    🔁 2    💬 1    📌 0

A huge thank you to the @KAT6Foundation for fueling our mission to uncover the biology of rare neurodevelopmental disorders—and bring hope to families. #Neurodevelopment #RareDiseaseResearch

06.06.2025 05:36 — 👍 0    🔁 0    💬 0    📌 0

🧬 Create patient-specific iPSC models to understand KAT6B-related neurodevelopmental differences.
🐭 Build variant-specific KAT6A mouse models to explore how different mutations shape the brain and test potential therapies.

06.06.2025 05:36 — 👍 0    🔁 0    💬 1    📌 0

We’re humbled and excited to share that our lab at UCLA has been awarded new funding from the @KAT6Foundation! This support will help us:

06.06.2025 05:36 — 👍 1    🔁 1    💬 1    📌 0

Congrats to Angela! She gave a great PhD thesis defense today! 🎉🎉😊

03.06.2025 21:02 — 👍 2    🔁 1    💬 1    📌 0

Good luck Oliver! We ( all all your school friends and my kiddos !) are cheering for you!

30.05.2025 00:07 — 👍 0    🔁 0    💬 0    📌 0

Some new work from our lab and collaboration with the Backus Lab at UCLA!

25.05.2025 05:06 — 👍 2    🔁 2    💬 0    📌 0

Prioritizing disease-associated missense variants with chemoproteomic-detected amino acids Mass spectrometry-based chemoproteomics can provide a high-throughput assessment of the likely functionality of specific sites on proteins. Here, we show that chemoproteomic measures of protein-based ...

📣New from Palafox et al!
📄Prioritizing disease-associated missense variants with chemoproteomic-detected amino acids

23.05.2025 14:32 — 👍 2    🔁 2    💬 0    📌 2

So much great science at the BSCRC 20th anniversary stem cell symposium! Proud of Yaneth, an undergraduate doing research with us for her poster presentation!

08.02.2025 17:28 — 👍 3    🔁 1    💬 1    📌 0