Erica Macke, PhD

Laboratory Genetics and Genomics Fellow. Opinions are my own.

[Alex Ferrer @DrAlexFerrer]

Our semiautomated pipeline approach, RENEW, allows prioritization and rapid reanalysis of unsolved exome/genome sequencing data. This will help with the ever growing problem of undiagnosed rare cases undergoing these tests. #MayoClinic #CIM #raredisease
https://t.co/Sgrj6isuL9

[Dr. Samantha Schilit @SamSchilit]

So grateful for visibility of our variant scientist colleagues at #ACMGMtg24

Sign up for their promoted Variant Scientist in Genomic Medicine advocacy group: https://t.co/UG3ghyLSz5

[Erica Macke, PhD @missmusculus]

Definitely the highlight of the conference every year

[ACMG @TheACMG]

The #ACMGFoundation Day of Caring is, for many, a highlight of the ACMG Annual Clinical Genetics Meeting. We invite you to take a moment to watch the video from today’s Day of Caring at #ACMGMtg24 and see the joy in the children’s faces: https://t.co/Q6dNAbbteZ via @YouTube

[ACMG @TheACMG]

The always popular Diagnostic Challenges Evening is upon us at #ACMGMtg24! These three interactive sessions will begin at 5:30 PM. Attendees bring cases to the attention of an expert panel and an audience of geneticists for discussion. Will you be at one of them? #medicalgenetics

[Erica Macke, PhD @missmusculus]

Come see me talk about optical genome mapping in the laboratory diagnostic challenges session tonight! #ACMGMtg24

[Erica Macke, PhD @missmusculus]

Appreciate hearing from @marcoleung_ this morning discussing the technologist shortage in clinical genetics labs, particularly our shortage of cyto techs and what we can do about it. Very important topic! #ACMGMtg24

[Erica Macke, PhD @missmusculus]

@SamSchilit I know of at least two people who had abstracts accepted and then had their trip request denied by their institution. Sucks bc you normally need proof of acceptance to request the trip, so then the abstract is in and the presenter can’t go.

[Erica Macke, PhD @missmusculus]

Baby’s first #ACMGMtg24 and hitting up the @bionano stratys party. When both your parents are geneticists you’re just along for the ride!

[Genetics in Medicine @GIMJournal]

Getting to the root of the problem: Collaboration among journal editors provides practical guidance based on the #NASEM report for use of population descriptors in #Genetics and #Genomics research https://t.co/r6W4bKgXix @JAMA_current @AJHGNews @HGGAdvances @NatureGenet

[Dr. Samantha Schilit @SamSchilit]

For all current and recent LGG fellows attending #ACMGMtg24:

Let’s celebrate the 2023 LGG boards study group, help establish one for our 2025 colleagues, and grow our community!

Sign up: https://t.co/jZ2fHrSS3g
Meet up: Wed 3/13, 5:30-6:30pm
By exhibit theater #2

#GeneChat

[ACMG @TheACMG]

ACMG thanks its members and all those who work every day to care for and improve the lives of patients and families living with rare diseases. #RareDiseaseDay # #ShareYourColours @rarediseaseday @RareDiseases

[Genetics in Medicine @GIMJournal]

Increased #VUS rate among non-White neonates underscores the urgent need for increased #diversity in #variant databases https://t.co/pXHSRjxWWM #NBS #ECS #populationscreening

[Erica Macke, PhD @missmusculus]

I’m lucky to work with some amazing genetic counselors!!

[ACMG @TheACMG]

ACMG thanks genetic counselors for the contributions they make to the field of #medicalgenetics & ACMG committees & work groups. They make an enormous difference for patients, families & public health. #IAmAGeneticCounselor #MedicalGeneticsAwareness @GeneticCouns

[Erica Macke, PhD @missmusculus]

@joiedelespirit Yay!! Congrats!! 🎉

[Association for Molecular Pathology @AMPath]

AMP statement: If finalized, FDA's proposed rule will impede the ability of clinical laboratories to rapidly develop, validate, and offer high-quality, innovative laboratory developed testing procedures (#LDPs) for patient care. https://t.co/MC0f2a7xyn #LDTs #molpath #pathX

[ACMG @TheACMG]

Celebrate #PublicHealthGenetics & Genomics Week - join FREE online conversation tomorrow, 5/17 at 7PM ET, with 2 geneticists on the role of #publichealth genetics & genomics in healthcare. Register for this ACMG Student Interest Group Event: https://t.co/ePZ7gCGsME #PHGW @NCCRCG

[Nationwide Children's Clinical & Research Updates @NCHforDocs]

1 Year of the Molecular Characterization Initiative =
>1,200 patient samples analyzed
from 47 states and 3 international sites
with 92.5% of analyzed samples returning at least one clinically relevant cancer-related result

Learn more: https://t.co/hZWmpFcS60

[ACMG @TheACMG]

It’s Medical Laboratory Professionals Week! ACMG thanks all medical lab pros, including clinical laboratory geneticists, who provide high-quality testing & interpretation that improves #patientcare & #publichealth. #LabWeek #GetResults #IamaLabGeneticist #MedicalGeneticsAwareness

[Erica Macke, PhD @missmusculus]

A new disease-gene relationship described for INTS11! This was a wonderful collaboration to be part of and help lead, thank you to all involved | https://t.co/GUW1J169TB

[Yassmine Akkari, PhD @akkari_yassmine]

Exploring Current Challenges in the Technologist Workforce of Clinical... https://t.co/P1FTrffLmX
#cytogenetics #genomics #educacion
Data to address the workforce shortage in clinical genomic laboratories