Emory Department of Human Genetics

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

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

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

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.

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

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?

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...

Two Trial Participants Have ‘Unprecedented’ Response to ASO Treatment Two Trial Participants Have ‘Unprecedented’ Response to ASO Treatment

Why does one #ALS patient respond more than others to ASOs? This phenomenon has appeared again recently with another ASO therapy ulefnersen/jacifusen - with a couple patients showing "unprecedented" response! Important for the field to find out. 4/x www.als.org/blog/two-tri...

In particular, case #6 displayed a "robust" decrease in polyGP, protein produced from toxic C9orf72 gene expansion, and increase in neurofilament, an ALS treatment response biomarker. 3/x

While the parent #ALS clinical trial was disappointing (see link), a few patients responded more than others on the molecular level -- without clinical improvement. 2/x eprints.whiterose.ac.uk/id/eprint/22...

Molecular impact of antisense oligonucleotide therapy in C9orf72-associated ALS This study provides an in-depth examination of the effects of BIIB078 antisense oligonucleotide therapy (ASO) in ALS patients with C9orf72 mutations. Although the drug reached the brain and spinal cor...

New research from #Emory #ALS Center and Dept of Neurology! Analysis of Biogen/Ionis-sponsored clinical trial of ASOs (antisense oligonucleotides) targeting C9orf72, the most common genetic cause of ALS. 1/x www.cell.com/cell/fulltex...

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...

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/...

Thank you Dr. Stoler! We agree! “Genetic testing is no longer something that should be considered a last resort... These tests provide real answers that can directly impact the care and support children and families receive.” publications.aap.org/pediatrics/a...

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.