Lia AM Boyle, MD, PhD

Ystday we had a bunch of delays things both in and out of our control. By the end of the day, we treated 3 people with genetic disorders that never had treatments 8 years ago...SMA, Angelman and now HNRNPH2-related disorder. All boats rise! @YBRP4hnrnph2 @HNRNP_Family @CureSMA

See our paper in GIM here. If you publish on variants, PLEASE use variantvalidator.org, or even better, just submit them to ClinVar before article submission (you can request a 6 month embargo), to both validate your variant naming AND make them findable by all!

Moo and Moo receptor

@lukebrosen I can’t tell you how much joy this brings me!

♥️ Two years.

@acweyand Ok I agree it’s not boring but you can’t say it’s not hard! (Of course I suspect the only reason Genetics isn’t on that chart right next time is because people forget about us, so I can empathize with having your specialty get a bad rep.)

@TDrivas How I wish I were even remotely surprised.

21 yo with no PMH develops acute heart failure, progresses to transplant. Post-transplant has new skeletal myopathy, now wheelchair-bound. We recommend exome+mito. Denied. Peer-to-peer: "this isn't an unusual presentation." Just another day in the US healthcare system.

As a pediatrician, after I ask a patient if they have pets, I ask the pet’s name. My small gift to anyone who reads my notes in the future is they can picture the poodle named Greg.

GeniE, the genetic prevalence estimator, is now available! broad.io/genie This tool allows users to estimate the genetic prevalence of autosomal recessive diseases using #gnomAD allele frequency data & classifications from #ClinVar Blog post: broad.io/genie_blog

@PaulKingsley7 @Gabby_Brauner27 I fully agree with all your points - but I think understanding how research is done/what makes good research is diferent from the box checking many programs encourage.

I get that research is important. 100% I do I just hate the feeling that we HAVE to do research to look good to residencies/fellowships/etc I just want to be a good doctor and focus on what I’m interested in without feeling like I have to check a box

@Gabby_Brauner27 As someone who personally loves research - agreed! I think making anyone do research who doesn’t want to is misguided and in net increases how much shoddy research happens. It’s much more important all doctors be able to accurately interpret the literature.

@ScatteredSLP @acweyand Whenever my patients answer my “how is x” (whether period or pooping for that matter), any time they say ‘normal’ I ask ‘what does normal mean for you’ - in a few instances both my patient and their mother realized “normal” for both of them is abnormal.

@acweyand My dr asks if my “bleeding is normal” and how I would rate it. Compared to what? Normal for me I can tell. But there were questions that I had no idea how to answer as a pretty aware nearly 40 year old who started a period at 12. 🤷🏼‍♀️

Pediatricians, PLEASE ask detailed questions about periods. No one talks about this stuff so no one knows what’s normal. You gotta get into details 🩸how many days? 🩸how often are you changing? 🩸 what are you using? 🩸do you regularly have periods multiple times a month

@ptsdaplaca @AmyGDalaMD No patient deaths are numbers to many (most?) of us. Sometimes when our faces give that impression it’s because we wait until we leave work and get home before we let ourselves feel our emotions. Some days that’s the only way we can help the other patients. We care deeply.

Peds palliative care & ICU folks: how do you process patient deaths? I’ve learned how to provide great care for children with progressive neurologic conditions, including some wonderful pall care skills. But I’m struggling with how to help myself with these losses…. 💔

@acweyand @HollyBiology One interesting thing about moving to MI is that cake donuts are more a thing than I’m used to from the east coast. This looks delicious - I just drove past DJs the other day but did not stop. I regret this now.

@HollyBiology Washtenaw is mainly (all?) cake donuts. I prefer yeast

Best glazed donut in all of Ann Arbor is at DJ’s bakery.

@doingthebooing WHY ARE THEY ALLOWED TO DO THAT?! My kittens used to sleep together next to each other in a space now almost too small for one of them. Should be illegal.

@blueviolethill @acweyand Interesting! I’m not a hunter and was trying to think what could possibly be relevant.

@liaamboyle @acweyand Because they either field dress or take to back-yard processors who stack the tagged deer in huge piles. The ones who field dress leave the skeletal remains in the woods for other animals to scavenge.

For ~25 years Ad vectors had little to no ability to transduce Purkinje cells, until now! Excited to announce our paper in MTMCD @MolTherapy on the development of Ad vectors that transduce Purkinje cells in a humanized mouse model shorturl.at/wyBW5

@ansharp Tell me more…

Should I start this inpatient on thiamine? Should I replace the sponge in the kitchen sink? If your brain has enough subconscious concern to ask itself either of those questions, the answer is yes.

One test to rule them all: Clinical #GenomeSequencing has superior sensitivity for CNVs and detection of multiple variant types including aneuploidies, mobile element insertions, and #UniparentalDisomy bit.ly/4cv21O2