Neuro GC & Research Program Coord | Public Health Genetics PhD student @uwsph | interests in bioethics and pediatrics, science is real, views are mine | she/her
Memphis, TN | Seattle, WA
Joined July 2009
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And congrats to @hcmefford on this year's @AmEpilepsySoc Basic Science Research Award! ✨🧠🧬
aesnet.org/about/aes-press-r…
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Reposting because it's such a great opportunity (and honestly a job I'd want if I didn't already have one!):
methodisthealth.wd5.myworkda…
#GeneChat #NSGC2024 #epilepsy #neurology #genetics #pediatrics
📣 Hey #GeneChat, especially those interested in or already working in pediatric neurology! 👋🏻🧬🧠
Check out and share this exciting new job opening at LeBonheur Children's Hospital in @LeBNeuroscience:
Https://methodisthealth.wd5.…
#jobs #memphis #GeneticCounseling
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As a GC licensed in #Florida I just received this disturbing anti-vaccine fear mongering from the @FLDeptofHealth
Do infections work differently in different states? Sad that our compassion for others might.
COVID is ROUGH this year, get boosted! 😷💉
content.govdelivery.com/acco…
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Ope! 👀
#GeneChat
Omission of critical information, overstating a negative result, overinterpreting an uncertain result or failing to disclose negative secondary findings. Who’s making these major and minor league errors? #GeneticCounselors or #Neonatologists bit.ly/3WLuat4
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📣 Hey #GeneChat, especially those interested in or already working in pediatric neurology! 👋🏻🧬🧠
Check out and share this exciting new job opening at LeBonheur Children's Hospital in @LeBNeuroscience:
Https://methodisthealth.wd5.…
#jobs #memphis #GeneticCounseling
"Those who have been historically marginalized ... must refuse to be seen as passive recipients of charitable and *trickle-down science*, and demand equitable partnerships."
🔥🔥🔥
And, those with power must demand equitable partnerships, too.
#science #PublicHealth #genomics
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Huge congrats to @cwlaflamme on the @NatureComms paper out today!
👏🏻👏🏻👏🏻
rdcu.be/dP9D3
Checkout the @StJudeResearch press release
👇🏻👇🏻👇🏻
News write-up from @StJudeResearch (you can see me in my natural lab habitat and attire 😜)
stjude.org/media-resources/n…
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Truly was a collaborative and special scientific event! @curechd2
Humbled by the motivated researchers, clinicians, and most importantly, CHD2 families, who work tirelessly towards better understanding of and treatments for kids and adults with CHD2 🧬💜🧠
What a fantastic group of parents, advocates, doctors, and scientists working together to @curechd2 this past weekend! It was a pleasure to speak about our work in the @hcmefford lab with @CarvillLab on #CHD2 #Methylation 🧬Excited to see what we find and how it impacts patients!
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🧬⭐ Bipartisan public health #genetics win in #Tennessee:
HB1862/SB1762 receives no 'no' votes and grants TennCare coverage for rapid WGS for kids and young adults under 21yo
Let's shorten the dx odyssey and maximize the benefits of genetics! ⭐🧬
ALT List of Tennessee members who vote yes on a bill
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So lucky to be in an environment where I get to connect with families in the clinic and through research, be supported in wearing all the hats I want, collaborate with colleagues near and far, and be a *valued* member of the team. 🧠🧬💜
#IAmAGeneticCounselor #DreamJob #GeneChat
I’m not good at keeping track of all the “days”, so thanks to @edith_almanza_ for the reminder, and just know that I appreciate you (and all GCs) every day @ebonkowski !! So glad to have you on our team! 🧬 ❤️ 🧬
Any thoughts, Spanish speaking #GeneChat?
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New #AJOB #ELSICon22 Special Issue is out! ✨
In our commentary, @hadleyssmith and I respond to @Meghan_Halley et al.'s piece on "Rare Disease, Advocacy, and Justice" to explore how for-profit companies can divert the path to justice in rare disease.
tandfonline.com/doi/full/10.…
Link here: ilae.org/news-and-media/news…
Hey #epilepsy #neurology #genetics #GeneChat colleagues - please fill out this @IlaeWeb survey on genetic testing for epilepsy! Esp looking to increase USA representation. Available in 5 languages. @IngoHelbig @BCH_PoduriLab @ghaydamirzaa @ebonkowski Please RT!
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Same.
I really think I work in the best lab with the best boss @hcmefford 🧠 🧬@StJudeResearch ♥️ blogs.stjude.org/progress/cr…
@edith_almanza_ @helenc327 @ebonkowski @esmatfa @sohamsg90 @Helen_Penn41
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"The psychotherapeutic work we do is not valued & is the hardest thing for me to swallow, because data show that it’s exactly this that makes the difference even when genetic testing *is* available. It’s the counseling that helps people."
#GeneChat 💔
thednaexchange.com/
What hurts for me is that we've been hopeful that if we do the (hard!) work to provide the evidence that proves our value, we will be valued.
Closing this revolutionary clinic led by former @GeneticCouns president @J9_Austin reminds us this is not (and might never be) the case.
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Personal #genetics soapbox: returning secondary/incidental findings saves lives and has huge #PublicHealth potential (with all the necessary post-return follow-up support, which is no small feat...)
Happy to see more evidence for this from #BabySeq!
#GeneChat #GeneticTesting
Our #BabySeq paper, out today, is significant for us.
Data suggests >10% of infants may carry unanticipated monogenic risks for actionable conds. that over 3–5 years will result in imp. medical consequences for those infants and their families.
Read: bit.ly/43pzAw0
The experience of genomic sequencing is *familial* rather than individual. In our paper led by @hadleyssmith, we had the opportunity to explore family-level factors that impact these experiences through qualitative analysis of parent & guardian interviews.
#GeneChat #Pediatrics
How do characteristics of families shape their experiences with the process (pre- and post-test) of pediatric #genomic sequencing ? Our qual findings can inform design of preference and outcome assessments. @ebonkowski @_StaceyPereira Read OA: mdpi.com/2227-9067/10/5/774
Get paid to join the @hcmefford lab @StJudeResearch this summer!
Check out this @AmEpilepsySoc role for undergrads: forms.office.com/pages/respo…
Would be a great fit for folks wanting to gain skills in translational genomics and considering PhD/MD/GC grad school🧬
#Genetics #Neuro
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New setting, same team -- thrilled to be back to meeting families in clinic with @hcmefford! 💜🧠🧬
@StJudeResearch @LeBNeuroscience
#Pediatrics #Epilepsy #Genetics #GeneChat
ALT Photo of a series of 5 heart sculptures in front of a children's hospital
First day back in clinic after a move-during-a-pandemic-regrow-the-lab hiatus! Great to be back! ❤️ the @StJudeResearch @LeBonheurChild @LeBNeuroscience partnerships that fuel research, help patients. 🧬 👩⚕️ 🧠 #genetics #epilepsy #raredisease
w/ @ebonkowski #GeneChat
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