Just wrote down the words"CRISPR-dCas9 epigenetic editing to treat Huntington's" and realized that 2010 me would not be able to understand what that means. Wow. #ashg2023

Top takeaways from Adv Dx for Rare Diseases: AI has good yield in id'ing potential dx and now being turned towards var calling; mild pheno abound, in CdLs and also in the GA4K results; genetics/genomics deserts are a thing and just b/c pts live near a genetics center, does not mean access. #ashg2023

Plenary I kicked off with a bang with a CRISPR-Cas9 non-viral delivery in Angelman and now loving Christina Falugi's presentation on implicit bias in traditional medical photographs as compared to "natural" photographs. #ASHG2023

Short field trip before the start of #ASHG2023 - now ready to get my genetics on! 🐼🧬🐼🧬🐼

I've been deep into rural Japanese life activities. Thanks for the tip, even if it's cutting into my sleep.... ☺️

Guessing that it was crowded and unmasked at NSGC?

But, most importantly, it was a tremendous reminder of the human impact of the hard work being done by everyone in the metabolic, genetics, and newborn screening community. We reach, we push, we connect, and we strive because it makes a difference for patients and their families.

And a chance to share my hometown with members of our national (and international) team! (AppleHouse, a local brewery, and didn't realize there would be that much interest in the Mall of America....)

What an absolute honor and joy it was to attend and present updates related to Pompe disease at the WORLDFair yesterday, as per invitation by the organizers. A unique opportunity to present to patient families and HCPs with some heartwarming interactions that I won't soon forget.

I hadn't seen this and am all in!!