Patricia Dickson
@PattiDickson
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Doctor, wife, professor, scientist. Research in the genetic disorder, mucopolysaccharidosis (MPS). Mastodon @[email protected]. Views are my own.
St Louis, MO
Joined July 2011
RT @WashUMedGen: Congratulations to Peds-Genetics trainee Grant Austin and @PattiDickson lab on their new paper with @Caltech's Feng Wang a….
journals.plos.org
Mucopolysaccharidosis type IIID (MPS IIID; Sanfilippo D) is caused by biallelic pathogenic variants in N-acetylglucosamine-6-sulfatase (GNS), which participates in catabolism of heparan sulfate (HS)...
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Congrats @CatdogGenes !.
Congrats Dr. Duque on your paper, "C4OH-carnitine: an important marker of ketosis in patients with and without inborn errors of metabolism" online in MGM!
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I believe the "Shoot It!" chant has a 0% success rate, is cursed, and should be retired. And, let's face it: sometimes the best thing to do is not "shoot it." #AllForCITY.
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RT @WashUMedGen: We are excited to announce our Pediatrics-Genetics residency match: Dr. Madeline Epping and Dr. Hunter Dean! A warm welcom….
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RT @FumihikoUrano: Congratulations to @PattiDickson @WashURareCare @WashUMedPeds @washumedicine St. Louis Rare Disease Community! This is a….
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Congrats Ewa and Jon!!.
Delighted to see our CLN1 & CLN2 Enteric Nervous System gene therapy paper published in @ScienceTM today! Big team effort with many great colleagues @HeuckerothLab @WashUMedPeds & directly inspired by Batten families @BDSRA @NIH_NINDS @noahs_hope1
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Congrats @SarahCHurt on your first-author publication on MPS I and the impact of antibodies to enzyme replacement therapy! @WashUMedGen @WashURareCare
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RT @WashUMedGen: Today 12/6 is the last day to submit your abstracts for the Rare Diseases Day Symposium @washumedicine on Feb 20! https://….
rarediseasesday.wustl.edu
Rare Diseases: Any disease, disorder, illness or condition affecting fewer than 200,000 people in the United States is considered rare by the National Institutes of Health (NIH), the U.S. Food and …
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Remember that as we concentrate care for rare diagnoses at centers of excellence, we reduce exposure to these cases for trainees. Familiarity is deep but narrow, and there is a cost to this approach.
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RT @WashUMedGen: Exhibits are open! Visit our booth #1146 at #ASHG24, on the Upper Level. @washumedicine @washu_pathology .
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Maybe what I'm grappling with is whether there really is such a thing as a discrete "trait".
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Do these terms capture all of the diversity of traits by genotype, I wonder?.
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In his Presidential address, ASHG President Bruce Gelb reminds us of the ascertainment bias in the cohorts we use to define traits by genotype. He examines this in terms of penetrance and expressivity. #ASHG24.
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RT @WashUMedGen: Heading to #ASHG24 this week? Be sure to check out these @washumedicine presentations. And stop by our booth for goodies!….
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RT @WashUMedGen: We are excited to announce that Dr. Phyo Nay Lin has matched with us for the medical genetics categorical residency progra….
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Congratulations @SarahCHurt for successfully defending your thesis and starting a new position at the University of Missouri Columbia!
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