Emory Department of Human Genetics
@emorygenetics.bsky.social
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.
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...
www.nature.com
October 22, 2025 at 3:21 PM
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
October 20, 2025 at 5:34 PM
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...
October 20, 2025 at 2:14 PM
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...
October 14, 2025 at 7:27 PM
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/...
October 8, 2025 at 7:32 PM
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...
www.aphlblog.org
October 8, 2025 at 5:31 PM
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-...
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
October 7, 2025 at 6:56 PM
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...
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...
September 12, 2025 at 6:23 PM
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
September 4, 2025 at 5:16 PM
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...
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
September 2, 2025 at 5:08 PM
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...
Reposted by Emory Department of Human Genetics
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
August 21, 2025 at 8:10 PM
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
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...
August 26, 2025 at 4:23 PM
Don't miss this thread from @sloanlab.bsky.social @maureenbiologies.bsky.social about new preprint examining effects of lead (Pb) on neurodevelopment #neuroscience #neuroskyence
Reposted by Emory Department of Human Genetics
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.
August 21, 2025 at 8:10 PM
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.
Reposted by Emory Department of Human Genetics
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
August 21, 2025 at 8:10 PM
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
Reposted by Emory Department of Human Genetics
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?
August 21, 2025 at 8:10 PM
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?
Reposted by Emory Department of Human Genetics
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...
August 21, 2025 at 8:10 PM
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...
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
August 26, 2025 at 4:09 PM
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...
August 13, 2025 at 2:38 PM
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/...
med.emory.edu/departments/...
June 26, 2025 at 3:24 PM
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/...
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...
June 25, 2025 at 4:57 PM
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...
Reposted by Emory Department of Human Genetics
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.
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
June 13, 2025 at 5:19 PM
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.
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
June 11, 2025 at 5:36 PM
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...
Reposted by Emory Department of Human Genetics
Excited to share our first publication in @npjdementia from #TanseyLab2and3ptO by Mackenzie Bolen & team in collaboration with Zach McEachin @emorygenetics.bsky.social Marla Gearing @emorycnd @melissamurray.bsky.social @mayojax www.nature.com/articles/s44...
Multiplex digital spatial profiling identifies subregion dependent targeted proteome changes across variants of dementia - npj Dementia
npj Dementia - Multiplex digital spatial profiling identifies subregion dependent targeted proteome changes across variants of dementia
www.nature.com
June 4, 2025 at 1:42 PM
Excited to share our first publication in @npjdementia from #TanseyLab2and3ptO by Mackenzie Bolen & team in collaboration with Zach McEachin @emorygenetics.bsky.social Marla Gearing @emorycnd @melissamurray.bsky.social @mayojax www.nature.com/articles/s44...
Brain organoid culture experts @sloanlab.bsky.social @jimena-andersen.bsky.social @brainorganoidhub.bsky.social explain: how someone closes an incubator door can affect results. “There’s a difference between not slamming and being gentle,” Sloan says. #neuroskyence www.nature.com/articles/d41...
Brain tissues, assemble! Inside the push to build better brain models
With organoids, assembloids and a growing toolkit of bioengineering tricks, scientists are stitching together models of the developing human brain — and pushing the limits of realism and control.
www.nature.com
May 14, 2025 at 5:42 PM
Brain organoid culture experts @sloanlab.bsky.social @jimena-andersen.bsky.social @brainorganoidhub.bsky.social explain: how someone closes an incubator door can affect results. “There’s a difference between not slamming and being gentle,” Sloan says. #neuroskyence www.nature.com/articles/d41...
Congratulations to Kathryn Garber, PhD, for earning the Paul M. Fernhoff Excellence in Teaching Award! This annual award is voted on by the students of the Genetic Counseling Training Program.
May 12, 2025 at 5:55 PM
Congratulations to Kathryn Garber, PhD, for earning the Paul M. Fernhoff Excellence in Teaching Award! This annual award is voted on by the students of the Genetic Counseling Training Program.