Emory Department of Human Genetics
@emorygenetics.bsky.social
410 followers 66 following 92 posts
We are geneticists and genetic counselors at Emory University School of Medicine. Interested in #neuroscience, epigenetics, metabolic disorders, brain organoids, computational/quantitative genetics. This account will share research and events.
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Emory Department of Human Genetics @emorygenetics.bsky.social · 14h
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 · 16h
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...
www.aphlblog.org
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Emory Department of Human Genetics @emorygenetics.bsky.social · 1d
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
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Emory Department of Human Genetics @emorygenetics.bsky.social · 26d
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-...
Emory Department of Human Genetics @emorygenetics.bsky.social · 26d
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...
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...
news.emory.edu
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Emory Department of Human Genetics @emorygenetics.bsky.social · 26d
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
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Emory Department of Human Genetics @emorygenetics.bsky.social · 26d
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 · Sep 4
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
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Emory Department of Human Genetics @emorygenetics.bsky.social · Sep 2
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...
www.cell.com
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Emory Department of Human Genetics @emorygenetics.bsky.social · Aug 27
That is changing all the time, it seems
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Reposted by Emory Department of Human Genetics
sloanlab.bsky.social
Steven Sloan @sloanlab.bsky.social · Aug 21
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 · Aug 26
Don't miss this thread from @sloanlab.bsky.social @maureenbiologies.bsky.social about new preprint examining effects of lead (Pb) on neurodevelopment #neuroscience #neuroskyence
sloanlab.bsky.social
Steven Sloan @sloanlab.bsky.social · Aug 21
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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Reposted by Emory Department of Human Genetics
sloanlab.bsky.social
Steven Sloan @sloanlab.bsky.social · Aug 21
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
sloanlab.bsky.social
Steven Sloan @sloanlab.bsky.social · Aug 21
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
sloanlab.bsky.social
Steven Sloan @sloanlab.bsky.social · Aug 21
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
sloanlab.bsky.social
Steven Sloan @sloanlab.bsky.social · Aug 21
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 · Aug 26
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...
Two Trial Participants Have ‘Unprecedented’ Response to ASO Treatment
Two Trial Participants Have ‘Unprecedented’ Response to ASO Treatment
www.als.org
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Emory Department of Human Genetics @emorygenetics.bsky.social · Aug 26
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
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Emory Department of Human Genetics @emorygenetics.bsky.social · Aug 26
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...
Safety, tolerability, and pharmacokinetics of antisense oligonucleotide BIIB078 in adults with C9orf72-associated amyotrophic lateral sclerosis: a phase 1, randomised, double blinded, placebo-controll...
eprints.whiterose.ac.uk
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Emory Department of Human Genetics @emorygenetics.bsky.social · Aug 26
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...
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...
www.cell.com
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Emory Department of Human Genetics @emorygenetics.bsky.social · Aug 13
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 · Jun 26
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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Emory Department of Human Genetics @emorygenetics.bsky.social · Jun 25
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...
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Reposted by Emory Department of Human Genetics
nordrare.bsky.social
National Organization for Rare Disorders (NORD) @nordrare.bsky.social · Jun 13
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.
Emory Department of Human Genetics @emorygenetics.bsky.social · Jun 11
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...
Agenda - Living Rare Living Stronger
livingrare.org
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Emory Department of Human Genetics @emorygenetics.bsky.social · Jun 11
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...
Agenda - Living Rare Living Stronger
livingrare.org
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