Lia AM Boyle, MD, PhD

Peds/genetics resident at @UMichpeds. MD from @ColumbiaPS, PhD from @ColumbiaGSAS with @WendyKChung & @GennarinoLab.

[Bain Brain Lab @BainBrainLab]

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

[Heidi Rehm @HeidiRehm]

See our paper in GIM here. If you publish on variants, PLEASE use https://t.co/xJSZNKqRTS, 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!

[Mark Lewis, MD, FASCO @marklewismd]

Moo and Moo receptor

[Lia AM Boyle, MD, PhD @liaamboyle]

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

[Lia AM Boyle, MD, PhD @liaamboyle]

@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.)

[Lia AM Boyle, MD, PhD @liaamboyle]

@TDrivas How I wish I were even remotely surprised.

[Lia AM Boyle, MD, PhD @liaamboyle]

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.

[Genome Aggregation Database @gnomad_project]

GeniE, the genetic prevalence estimator, is now available! https://t.co/QHtuIvLrGt

This tool allows users to estimate the genetic prevalence of autosomal recessive diseases using #gnomAD allele frequency data & classifications from #ClinVar

Blog post: https://t.co/aSpUglRKVj

[Lia AM Boyle, MD, PhD @liaamboyle]

@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.

[Lia AM Boyle, MD, PhD @liaamboyle]

@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.

[Lia AM Boyle, MD, PhD @liaamboyle]

@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.

[Lia AM Boyle, MD, PhD @liaamboyle]

@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.

[Lia AM Boyle, MD, PhD @liaamboyle]

@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.

[Lia AM Boyle, MD, PhD @liaamboyle]

@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.

[Lia AM Boyle, MD, PhD @liaamboyle]

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

[samyounglab @SamYoungLab]

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 https://t.co/1MIg8OJACY

[Lia AM Boyle, MD, PhD @liaamboyle]

@ansharp Tell me more…

[Zach London @zach_london]

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.

[Genetics in Medicine @GIMJournal]

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 https://t.co/4KOp8C4ykQ