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Reposted by Emory Department of Human Genetics

Paige Jarreau @fromthelabbench.bsky.social · 18/07/2026

Mini Spinal Cords in a Dish Help Neuroscientist Nuri Study ALS! Watch my interview with Nuri: youtu.be/voE6I5nRvqI?... 🧠 @emoryuniversity.bsky.social, @nurismith.bsky.social @emorygenetics.bsky.social #organoids #blackinneuro

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Emory Department of Human Genetics @emorygenetics.bsky.social · 17/04/2026

Looking forward to our 2026 Down Syndrome Research + Caregiver symposium tomorrow! w/ Down Syndrome Association of Atlanta med.emory.edu/departments/...

med.emory.edu

2026 Emory Down Syndrome Research and Caregiver Symposium | Emory School of Medicine

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Reposted by Emory Department of Human Genetics

Steven Sloan @sloanlab.bsky.social · 30/03/2026

We thought maybe this was some artifact related to organoids. But no! We see the same thing in primary human cortical slices. We see MHCII at the cell surface AND we see CD74 loaded onto MHCII only in the presence of inflammatory cytokines

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Reposted by Emory Department of Human Genetics

Steven Sloan @sloanlab.bsky.social · 30/03/2026

ok, but surprise! Remember those time-dependent genes that only turn on with prolonged inflammatory exposure? Almost all were related to MHCII presentation. We thought this must be a mistake. Astrocytes are not canonical antigen presenting cells! But we see this also by protein staining.

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Reposted by Emory Department of Human Genetics

Steven Sloan @sloanlab.bsky.social · 30/03/2026

More to come on that in a sec. But FIRST! We had another question. If you make astrocytes "reactive", can they reverse back to a "normal" state if you remove the inflammatory cue? Does it matter how long the initial inflammatory signal lasts before withdrawing it? The answer is generally, YES!

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Reposted by Emory Department of Human Genetics

Steven Sloan @sloanlab.bsky.social · 30/03/2026

Looking across transcriptomic and chromatin accessibility landscapes, we saw 3 clear patterns: some genes and loci react immediately to cytokines, while others emerge only with sustained exposure. A small group of genes also turn off quite quickly.

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Reposted by Emory Department of Human Genetics

Steven Sloan @sloanlab.bsky.social · 30/03/2026

We started with a simple question. We know astrocytes form in human cortical organoids, but can we induce reactivity in 3D, and at more immature ages? Answer is yes. See C3 induction here in the setting of inflammatory cytokines. RNAseq shows robust reactive signatures, too!

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Reposted by Emory Department of Human Genetics

Steven Sloan @sloanlab.bsky.social · 30/03/2026

New work from our team, led by the incredible @emily-hill.bsky.social out today @cp-neuron.bsky.social. Including some exciting additions from our prepint. Thread below! authors.elsevier.com/a/1ms0u3BtfH...

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Emory Department of Human Genetics @emorygenetics.bsky.social · 30/03/2026

Astrocytes, once viewed as passive support cells in the brain, can become cells that regulate the immune system, Emory researchers led by @sloanlab.bsky.social have demonstrated. The results are published in Neuron -- @cp-neuron.bsky.social www.cell.com/neuron/abstr... 1/3

When exposed to inflammatory signals, astrocytes can display MHC class II complexes needed for antigen presentation

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Emory Department of Human Genetics @emorygenetics.bsky.social · 20/03/2026

Pleased to welcome Meredith Fuchs (middle in photo) to our combined Pediatrics/Medical Genetics residency program #EmoryMatchDay

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Emory Department of Human Genetics @emorygenetics.bsky.social · 16/02/2026

Because of #fragileX premutation phenotypes such as FXPOI and FXTAS, we are familiar with the idea that “carriers” for some genetic conditions can have symptoms too. @roxannek.bsky.social explores the biological breadth of this phenomenon in The Atlantic. www.theatlantic.com/health/2026/...

theatlantic.com

Their Mutated Genes Were Supposed to Be Harmless

“Carriers” of certain genetic diseases, who have just one affected gene, can have symptoms too.

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Emory Department of Human Genetics @emorygenetics.bsky.social · 27/01/2026

Getting ready for 2026 Emory Down Syndrome Research and Caregiver Symposium, April 18 -- registration link thanks to Down Syndrome Association of Atlanta med.emory.edu/departments/...

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Reposted by Emory Department of Human Genetics

Shoumita Dasgupta, PhD @profdasgupta.bsky.social · 10/12/2025

This time of year is a whirlwind, but I wanted to share some of the incredible experiences I was fortunate to have over the past week... 📚 A visit and seminar for @emorygenetics.bsky.social with a chance to connect with their Genetic Counseling students & dear colleagues bsky.app/profile/emor... 1/5

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Emory Department of Human Genetics @emorygenetics.bsky.social · 09/12/2025

New research from our department: Andrew Shafik, Peng Jin and colleagues map patterns of m6a (methyladenosine) RNA modification in human brain across the lifespan @natneuro.nature.com #neuroscience #epitranscriptomics www.nature.com/articles/s41...

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Emory Department of Human Genetics @emorygenetics.bsky.social · 04/12/2025

We are looking forward to hear Elizabeth Berry-Kravis, leading #fragilex clinician and researcher today #neuroscience #clinicaltrials #autism

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Emory Department of Human Genetics @emorygenetics.bsky.social · 02/12/2025

Check out our Q+A with a parent of a child with a metabolic disorder. #rarediseases @nordrare.bsky.social med.emory.edu/departments/...

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Emory Department of Human Genetics @emorygenetics.bsky.social · 20/11/2025

Elizabeth Berry-Kravis will be our 2025 Warren Distinguished Lecturer on December 4 -- Especially appropriate b/c EBK is leading clinician studying #fragilex syndrome

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Emory Department of Human Genetics @emorygenetics.bsky.social · 20/10/2025

Our #genetics clinic is hosting a Metabolic Community Day on Saturday Oct 25 at Mason Mill Park for families navigating rare metabolic disorders. Special diets/formula/insurance -- lots to discuss and figure out together! #rarediseases

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Emory Department of Human Genetics @emorygenetics.bsky.social · 20/10/2025

Congratulations to Chenyang Yuan for winning the Trainee Research Excellence Award at #ASHG25. Yuan presented mcDETECT, a machine learning framework for analyzing mRNA localized in neuronal synapses/dendrites/axons 1/2 www.biorxiv.org/content/10.1...

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Emory Department of Human Genetics @emorygenetics.bsky.social · 14/10/2025

Eric Green, previously NHGRI director for 15 years and now #Emory /CHOA #genomics advisor, gets 2025 ASHG (American Society of Human Genetics) @geneticssociety.bsky.social Leadership award www.ashg.org/membership/a...

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Emory Department of Human Genetics @emorygenetics.bsky.social · 08/10/2025

Hailing Shi and her lab are advancing a powerful technique called spatial transcriptomics. To drive their research, Shi’s lab recently installed a customized microscope set-up. #genesky 🧬 med.emory.edu/departments/...

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Emory Department of Human Genetics @emorygenetics.bsky.social · 07/10/2025

A preview of research from our department! Spatial transcriptomics from Hailing Shi's and Jian Zhou's labs. Mouse brain with expression of 14 marker genes visualized -- blue nuclear cloud = DAPI, yellow marker = somatostatin (inhibitory neuron) #neuroscience vimeo.com/1125227430/f...

vimeo.com

YJW_AA_manual2_recording2 1

This is "YJW_AA_manual2_recording2 1" by Emory University on Vimeo, the home for high quality videos and the people who love them.

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Emory Department of Human Genetics @emorygenetics.bsky.social · 12/09/2025

We celebrate @jimena-andersen.bsky.social, Zachary McEachin and Jian Hu, who were nominated by their colleagues as part of #Emory University School of Medicine’s 2025 Researcher Appreciation Day. 1/4 med.emory.edu/about/facult...

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Emory Department of Human Genetics @emorygenetics.bsky.social · 04/09/2025

Research from our department -- 1st author Zach McEachin -- covers #ALS ASOs (antisense oligonucleotides) -- patient response varies widely with ASOs and we need to figure out why. This study covers BIIB078; more recent example jacifusen/ulefnersen news.emory.edu/stories/2025...

news.emory.edu

Why a promising ALS drug failed: Emory study offers answers | Emory University | Atlanta GA

A new Emory University study led by the Emory ALS Center in collaboration with investigators from the Center for Neurodegenerative Disease sheds light on why a once-promising experimental medication f...

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Emory Department of Human Genetics @emorygenetics.bsky.social · 02/09/2025

New research from our department + partners led by Elizabeth Leslie-Clarkson! Genetic variants in PRKCI causing Van der Woude syndrome: cleft lip/palate + lip pits. This is 3rd gene responsible for VWS -- 1st (IRF6) discovered in 2002 #Genesky @scgdb.bsky.social www.cell.com/ajhg/abstrac...

cell.com

Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy

De novo missense variants in PRKCI are loss of function and disrupt periderm, resulting in a heterogeneous phenotype including orofacial clefts, clinical features of Van der Woude syndrome, and relate...

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Reposted by Emory Department of Human Genetics

Steven Sloan @sloanlab.bsky.social · 21/08/2025

This wouldn’t have been possible without our amazing collaborators and support (Emory HERCULES, @emorygenetics.bsky.social) and the bold and fearless ambition of @maureenbiologies.bsky.social

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Emory Department of Human Genetics @emorygenetics.bsky.social · 26/08/2025

Don't miss this thread from @sloanlab.bsky.social @maureenbiologies.bsky.social about new preprint examining effects of lead (Pb) on neurodevelopment #neuroscience #neuroskyence

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Reposted by Emory Department of Human Genetics

Steven Sloan @sloanlab.bsky.social · 21/08/2025

Could we then observe Pb being actively taken up by human neural cells? Yes! A human Pb sensor (leadmium) let us literally watch Pb uptake over the course of several hours into human neurons and astrocytes.

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Reposted by Emory Department of Human Genetics

Steven Sloan @sloanlab.bsky.social · 21/08/2025

One of the first challenges we had was figuring out how much Pb to give to human cells to reflect true exposure levels. We dug through the literature for relevant Pb levels in brain and then empirically correlated this with exposure paradigms that resulted in similar tissue levels in human organoids

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Reposted by Emory Department of Human Genetics

Steven Sloan @sloanlab.bsky.social · 21/08/2025

We decided to investigate one of the most infamous and widely prevalent neurotoxicants—Lead (Pb). In the US, approximately 2.5% of pregnant women exhibit high blood Pb levels (!!!) What is the consequence of this on the developing human brain?

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Reposted by Emory Department of Human Genetics

Steven Sloan @sloanlab.bsky.social · 21/08/2025

Excited to share an important new pre-print from the lab led by incredibly talented postdoc @maureenbiologies.bsky.social, a neurotoxicologist who came to the lab with an ambitious goal of understanding the consequences of toxicant exposure in human neurodevelopment. www.biorxiv.org/content/10.1...

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Emory Department of Human Genetics @emorygenetics.bsky.social · 13/08/2025

Families managing #metabolic disorders in Atlanta/Georgia can put this event on their calendars. Learn from others going through the same issues (and our experienced clinicians and genetic counselors) #rarediseases forms.gle/t3u32QtqfyWM...

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Emory Department of Human Genetics @emorygenetics.bsky.social · 26/06/2025

While it may resemble a traditional summer camp, Emory's Metcamp serves a deeper purpose: equipping women living with PKU/MSUD with knowledge, skills, and confidence to manage lifelong dietary management and new treatments. #rarediseases #PKU med.emory.edu/departments/...

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Reposted by Emory Department of Human Genetics

National Organization for Rare Disorders (NORD) @nordrare.bsky.social · 13/06/2025

If you live in the #Atlanta, #Georgia area, come meet your local #NORD Rare Disease Center of Excellence - the Emory University Human Genetics team, @emorygenetics.bsky.social at @emorydeptofmed.bsky.social and Children's Healthcare of Atlanta - June 27 at the Georgia Aquarium! Visit LivingRare.org.

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Emory Department of Human Genetics @emorygenetics.bsky.social · 11/06/2025

Looking forward to Living Rare conference at Georgia Aquarium June 27 -- three of our folks talking about genetic testing, clinical trials and more #rarediseases @nordrare.bsky.social livingrare.org/georgia-meet...

livingrare.org

Agenda - Living Rare Living Stronger

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Emory Department of Human Genetics @emorygenetics.bsky.social · 12/05/2025

Congratulations to Kathryn Garber, PhD, for earning the Paul M. Fernhoff Excellence in Teaching Award! This annual award is voted on by the students of the Genetic Counseling Training Program.

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Emory Department of Human Genetics @emorygenetics.bsky.social · 07/05/2025

Books for children about rare diseases such as Fabry and Pompe by our GCTC (Genetic Clinical Trials Center) director Dawn Laney on display #rarediseases

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Reposted by Emory Department of Human Genetics

Sergiu P. Pasca @sergiuppasca.bsky.social · 07/05/2025

This week we welcome on campus 2025 class of students for our hands-on Stanford Brain Organogenesis course. With students joining from across the globe, this is our most international class yet—diving into cutting-edge neural #organoid and #assembloid methods, ready to bring them back to their labs.

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Emory Department of Human Genetics @emorygenetics.bsky.social · 28/04/2025

We are honored to host Eric Green, former director of National Human Genome Research Institute, next week (noon, May 7, Whitehead auditorium) #GeneSky

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Emory Department of Human Genetics @emorygenetics.bsky.social · 14/04/2025

Good news! Although we are not able to offer the full Next Gen high school internship program this summer, we are planning a series of four in-person "boot camps", in which students will get a close-up look at what we do. More to come. #GeneSky

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