I think that there can be a middle ground between undifferentiated screening and improving access to more widespread testing, especially in symptomatic populations. Although many people develop self-coping mechanisms meaning that 'symptoms' of disease can be disregarded.

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French onion soup in Montreal is so good. 😋

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WashU Rare Disease Day was wonderful today. Stephanie Snow-Gebel gave my favorite talk, and this quote really stuck with me: “Awareness is not vanity. It’s velocity!” 🔥 @rarediseaseday.bsky.social @pattidickson.bsky.social #SnowFoundation

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A tribute to Stuart Kornfeld, pioneering #glycotime scientist whose work on mannose-6-phosphate receptor lysosomal trafficking (among many other contributions) was highly influential to our work 🫡 www.jci.org/articles/vie...

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Not able to be there this year and my friend texted "Epigenome editing to treat PWS using nanoparticles. You’re missing out." I miss my people.

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