Jessica Priestley, MD PhD

Today, we paid for a perfectly fine haircut in the morning and hacked the 💩 out of our hair with a pair of kitchen scissors in the afternoon. Tell me this is normal. Tell me it gets better. Pour me a drink.

@anandbmdphd @NatureMedicine @PennMedicine @CHOP_Research @GillSaar Congrats!

Tremendously proud to share my fellowship work, online today in @NatureMedicine. We tried to understand why CAR T therapy for AML doesn't work as well as we hoped it would, and how we can solve that. 👇🧵1/10 @PennMedicine @CHOP_Research @GillSaar nature.com/articles/s4159…

Enjoying Michael Eckrich's talk on sickle cell disease/therapies at @devoschildrens. Through a geneticist lens, the disease is remarkable - one SNP to explain pathology (and now provide a therapeutic target). A beautiful example of the power of understanding molecular biology.

Treating NBS conditions like the chronic, complex conditions that they are from the beginning, in an integrated way.

But wouldn't it also be great if they also met with social work and a psychologist? And later, wouldn't it be cool if that team also included developmental pediatricians, phys/occupational therapists, nutritionists, etc?

As #newbornscreening expands further, I envision a role for multidisciplinary teams to triage, evaluate, and manage positive screens. #InfantileKrabbe is an example - a family meets with a (biochemical) geneticist, neurologist, bone marrow transplant specialist at first visit.

Also, a good opportunity to reiterate - kids in heart failure/with cardiomyopathy deserve broad genetic testing. See pubmed.ncbi.nlm.nih.gov/37923198/ and pubmed.ncbi.nlm.nih.gov/31527676/

Proud to have been a small part of this patient's story.

@RABallout Right? So amazing. We have the coolest job in the world.

Asked R what she wants to do when she grows up. R: Make pancakes. But of course 🥞

One of the things I miss most about Philadelphia is Parks on Tap - @GrandRapids_MI, no reason why craft beer in beautiful places wouldn't also be a hit here...

Letter of medical necessity/prescription coverage appeal faxed: 9:09 am Reviewed: 10:06 am "Final Adverse Coverage Determination" faxed: 11:36 am. ...took them longer to fax the decision than it did to review. 😡

@googlemaps should have a function whereby there is a button to extend my route by X number of minutes when the kids inevitably fall asleep.

Dr Mariko Bennett and Dr Laura Adang discuss inborn errors in nucleotide metabolism, exemplified by Aicardi Goutières syndrome. Soundcloud: soundcloud.com/user-109006120… Apple: podcasts.apple.com/gb/podcast/aic… Spotify: open.spotify.com/episode/0aOOX9… #AGS #podcast

Therapeutic eat, sleep, snugs? Yes ma'am. jamanetwork.com/journals/jamap…

@kuntal_sen_ @SIMDtweets @AndreaGropman So naturally on Wednesdays you wear pink...I love it.

@MommasaurusJess @SIMDtweets @AndreaGropman Yes before every conference we have a meeting to go over presentations, posters and matching outfits 😂

And it’s a wrap! @SIMDtweets Last one with “mom-tor” 🩷 @AndreaGropman

@CoughlinIi @SIMDtweets @kuntal_sen_ @KristinaOzog Liking this for lots of reasons, but especially NKTB 😀

The end of #SIMD2024. I saw old friends. Heard amazing talks. Was blown away by our "newer" colleagues. And booked a NKTB concert. A great meeting! @SIMDtweets @kuntal_sen_ @KristinaOzog

The lack of diversity in the genomics workforce reflects the long-term effects of a larger set of societal barriers, and it directly affects the work that we are doing in genomics – including using genomics to improve the practice of medicine.

Peep these @ChildrensPhila neurologists 😍! @nachoriko