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

Simultaneous Protein and RNA-Omics (SPARO) enhances TurboID protein tagging #neuroscience
Photo = @christinaramelow.bsky.social, Link = @natcomms.nature.com
www.nature.com/articles/s41...

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.

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...

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...

The observation has implications for efforts to control and reverse neuro-inflammation, which drives autoimmune disorders such as multiple sclerosis and contributes to neurodegenerative diseases such as Parkinson’s. More here med.emory.edu/departments/... look for a thread by @sloanlab.bsky.social!

When exposed to sustained inflammatory signals, astrocytes can become antigen-presenting cells, which direct the responses of T cells. But if those signals are removed, the astrocytes return to a quiescent state. 2/3

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

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

Their Mutated Genes Were Supposed to Be Harmless “Carriers” of certain genetic diseases, who have just one affected gene, can have symptoms too.

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/...

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

N6-methyladenosine (m6A): Minor Modification, Major Impact - AlidaBio This beginner’s guide introduces the growing field of RNA modifications, or the epitranscriptome, which adds a dynamic regulatory layer to gene expression.

Interesting blog post on m6A -- M6A enzyme inhibitors are emerging as anti-cancer drugs, but m6A does not act the same way everywhere; its effects on RNA metabolism are context-dependent www.alidabio.com/blog-post/m6...

* METTL3 + METTL14 critical for neurogenesis and memory consolidation
* FTO (m6A eraser)= first genetic locus linked to obesity through GWAS - function still unclear!
* M6A more prevalent in human fetal cortex than in rodent; more than 30% of transcripts in human fetal brain carried the m6A tag

Interesting things about m6A:
* Typical mRNA molecules carry several m6A sites
* M6A modification can influence RNA splicing, translation, nuclear export, RNA stability
* Host of enzymes add/remove/recognize m6A (writers: METTL3 + METTL14, erasers: FTO + ALKBH5, readers: many)

Major findings in the paper include widespread regional differences in m6A patterns, especially in genes linked to disease risk. Age-related m6A changes most pronounced in prefrontal cortex. Integrating m6A profiles with WGS shows that m6A modifications associate with other disease-related loci

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

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.

“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...

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

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...

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

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...

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...

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

Chenyang is biostatistics grad student at @emoryrollins.bsky.social -- mcDETECT works with datasets generated with #genomics platforms such as Xenium 5K, MERSCOPE and CosMx. In AD mouse model, can reveal alterations in RNA patterns and neuronal states before observable neuronal loss. 2/2