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

Nice write-up of proteomics/transcriptomics technique development by @christinaramelow.bsky.social @sloanlab.bsky.social + Srikant Rangaraju (now at Yale) h/t @fredakreier.bsky.social medicine.yale.edu/news-article...

A Better Way to See How Brain Cells Falter in Disease

A new approach offers a more accurate view of the molecular activity in brain cells and how it changes in diseases like Alzheimer’s.

medicine.yale.edu

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

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.

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!

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.

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!

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...

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

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

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/...

Their Mutated Genes Were Supposed to Be Harmless

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

theatlantic.com

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/...

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

Thought-provoking talk by @profdasgupta.bsky.social today. The room was packed with our medical geneticists and genetic counselors! #genetics #bioethics www.shoumitadasgupta.com

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...

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

“Emory was a place where I could have a weird idea and people let me run with it" Bystro AI genome analysis app recently highlighted by Boston Globe www.bostonglobe.com/2025/11/25/b...

Have you done a DNA test? This chatbot will talk to you about your results. - The Boston Globe

Boston startup Bystro AI believes the mail-in genetic tests used by millions to trace their ancestry could also help people live healthier lives.

bostonglobe.com

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

Thought-provoking talk by @profdasgupta.bsky.social today. The room was packed with our medical geneticists and genetic counselors! #genetics #bioethics www.shoumitadasgupta.com

Shoumita Dasgupta, PhD | author, speaker, and professor | genetics, equity, and inclusion

Shoumita Dasgupta, PhD | author, speaker, and educator, introduces readers and learners to Professor Dasgupta's published works on genetics, equity, and justice as well as opportunities to invite her...

shoumitadasgupta.com

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

I'm thrilled to be able to share this new paper from post-doc Camilla Teng @xsciteng.bsky.social and our collaborators in the Leslie-Clarkson lab @emorygenetics.bsky.social on mechanisms of tissue fusion and cleft lip url: rupress.org/jcb/article/...

New research from our faculty! @joshweinstock.bsky.social with @alexisbattle.bsky.social and Marios Arvanitis from Johns Hopkins -- study of clonal hematopoesis via analysis of >50,000 genomes from NHLBI TOPMed sequencing initiative @natcomms.nature.com www.nature.com/articles/s41...

Genetic determinants and genomic consequences of non-leukemogenic somatic point mutations - Nature Communications

Here the authors develop a novel statistical method for quantifying mutation burden from whole genome sequencing data and use it to discover the genetic, genomic, and phenotypic correlates of clonal h...

nature.com

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

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...

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...

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/...

The director of our #newbornscreening follow-up program, Angela Wittenauer (3rd from right), won an award! The Judi Tuerck Newborn Screening Follow-up and Education Award From @aphl.org: www.aphlblog.org/aphl-honors-...

APHL Honors 2025 Newborn Screening Award Winners  - APHL Blog

For Immediate Release  Providence, Rhode Island, October 8, 2025 – At the 2025 Association of Public Health Laboratories (APHL) Newborn Screening Symposium, APHL presented six awards to leaders who ha...

aphlblog.org

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...

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.

vimeo.com

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...

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...

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...

news.emory.edu

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...

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...

cell.com