Emory Department of Human Genetics

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...
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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

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...

We also noticed that Green is appearing at a STAT Summit session on "Inside the Upheaval at NIH" with @jeremymberg.bsky.social (how convenient for #ASHG25 folks)

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/...

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...

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-...

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.

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...

Hu’s lab integrates single-cell and spatial data with clinical and histological information to uncover disease mechanisms and accelerate precision medicine. 4/4 jianhu-lab.org/people/jian-...

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 and the Center for Neurodegenerative Disease at Emory’s Goizueta Brain Health Institute, sheds light on why a once-promising experimental medi...

McEachin’s multiomic approach reveals disease-specific molecular changes, facilitating biomarker and targeted therapy development. An example of his work was published in Cell this month. 3/4 news.emory.edu/stories/2025...

Andersen is a global leader in the use of assembloids - mini-organ systems that model brain-spinal cord interactions - to study ALS (amyotrophic lateral sclerosis). 2/4

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...

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...

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...

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...

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...

That is changing all the time, it seems