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Erin McRoy, MS, CGC, is a pediatric genetic counselor at WashU. Erin is involved in The Undiagnosed Diseases Network, has an ophthalmology specialty clinic, and loves her black cat Magic. #GeneticCounselorAwarenessDay #raredisease

Sam Toy, MS, CGC is a WashU pediatric genetic counselor with specialty clinics in Primary Ciliary Dyskinesia, immunology and arrhythmia. #GeneticCounselorAwarenessDay

Follow this link to learn more about genetic counselors and genetic counseling! #GeneticCounselorAwarenessDay cipe.wustl.edu/items/genetic-…

New guidelines for PAH deficiency (i.e. PKU and related disorders), a relatively common inborn error of metabolism that is screened for at birth and frequently managed by medical biochemical geneticists and metabolic dietitians.

Today 12/6 is the last day to submit your abstracts for the Rare Diseases Day Symposium WashU Medicine on Feb 20! rarediseasesday.wustl.edu/proposals/

Congrats to fourth year peds-genetics trainee Dr. Shao Tu, DKGrange, Liz Toolan, MS, RD, LD, Sakil Kulkarni, Marius Khan and Katie Wolfe on their new paper in JIMD Reports The Journal of Inherited Metabolic Disease WUSTLPedsGI WashU Medicine Pediatrics onlinelibrary.wiley.com/doi/10.1002/jm…

Merriment is in our DNA!

New paper from the WashU UDN Diagnostic Center of Excellence describing an unusual case of sialiv acid storage disease with mosaicism UDN WashU Medicine Pediatrics sciencedirect.com/science/articl…

Congrats Sarah Hurt on your first-author publication on MPS I and the impact of antibodies to enzyme replacement therapy! WashU Medicine Medical Genetics Washington University Rare Diseases Care sciencedirect.com/science/articl…

Congratulations to Jonathan Cooper lab and colleagues Sardiello Lab Patricia Dickson lab, Sands lab and others on new work defining a role for gene therapy in treatment of enteric nervous system disease, out today in Science Translational Medicine

We are excited to announce our Pediatrics-Genetics residency match: Dr. Madeline Epping and Dr. Hunter Dean! A warm welcome to the WashU Gene Team! WashU Medicine Pediatrics

Hunter Slosser, KCU medical student, presents his poster on work with the WashU Medicine pharmacogenomics clinic at #ACMGMtg25 ACMG WashU Medicine Pediatrics WashU Medicine Pathology & Immunology Kansas City University

WashU Medicine Division of Genetics and Genomic Medicine faculty and trainees attending #ACMGMtg25

Happy #DNADay everyone!!

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! kwnsfk27.r.eu-west-1.awstrack.me/L0/https:%2F%2…

The ACMG has just published a statement on metabolomics for inborn errors of metabolism, co-authored by Dr. Duque Lasio. WashU Medicine Pediatrics CATDOG_GENES 👏kwnsfk27.r.eu-west-1.awstrack.me/L0/https:%2F%2…