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

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

“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/...

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/...

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

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...

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-...

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...

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...

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...

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.

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...

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...

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.

Books for children about rare diseases such as Fabry and Pompe by our GCTC (Genetic Clinical Trials Center) director Dawn Laney on display #rarediseases

This week we welcome on campus 2025 class of students for our hands-on Stanford Brain Organogenesis course. With students joining from across the globe, this is our most international class yet—diving into cutting-edge neural #organoid and #assembloid methods, ready to bring them back to their labs.

We are honored to host Eric Green, former director of National Human Genome Research Institute, next week (noon, May 7, Whitehead auditorium) #GeneSky

Good news! Although we are not able to offer the full Next Gen high school internship program this summer, we are planning a series of four in-person "boot camps", in which students will get a close-up look at what we do. More to come. #GeneSky

[email protected] earns 2025 Provost's Teaching Award (from Laney Grad School) - nomination cites leadership of task force redesigning Neuroscience curriculum, along w/ supervision of courses in professional development, journal club, and RNA-seq analysis med.emory.edu/departments/...

Celebrating National Doctor's Day and honoring our excellent medical geneticists! Drs Michael Gambello, Hong Li and Rossana Sanchez Russo all nominated 1/4 #EmoryDoctorsDay2025 med.emory.edu/about/facult...

Genetic counselor Emalyn Cork explains the value of clinical-grade testing re the decline of 23andMe - thanks @ajc.com 🧬 #Genesky #IAmAGeneticCounselor #geneticcounseling www.ajc.com/2025/03/you-...

Nice @thetransmitter.bsky.social @chloewilliams.bsky.social writeup of @cp-neuron.bsky.social paper on MeCP2 function in mouse model of Rett syndrome -- co-author Jian Zhou of our department -- work from Zoghbi lab @bcmgenetics.bsky.social www.thetransmitter.org/spectrum/mol...

The Division of Medical Genetics prepared for #RareDiseaseDay with an outreach event, complete with many zebras, at Emory University Hospital. Thanks especially to Dr Rossana Sanchez Russo for organizing! @emoryhealthcare.bsky.social

Thanks for stopping by the Zebra Zone, @docdelrio.bsky.social! #RareDiseaseDay See all our events here: med.emory.edu/departments/...

A reminder about our outreach event this week for #RareDiseaseDay! Thursday (February 27): 9:00AM-12:00PM for industry partners, 12:00PM-3:00PM for patients and families Visit the tables and booths hosted by our department in the pedestrian bridge between Emory Clinic buildings A and B.

We are preparing for Rare Disease Day 2025, with a public outreach event, a Prader Willi documentary, and a symposium. For more details: med.emory.edu/departments/...

Exciting talk today by Jennifer Phillips-Cremins @penngenetics.bsky.social on how chromatin and DNA loops change in response to neuronal stimulation and in disease states

Was really excited to get to give a talk this morning during Emory Human Genetics grand rounds on our data trying to mechanistically understand Kabuki Syndrome and Kabuki-like Syndrome. Thanks to Dr. Hong Li for inviting me! @emorygenetics.bsky.social