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Emory Department of Human Genetics @emorygenetics.bsky.social · 08/04/2026

Simultaneous Protein and RNA-Omics (SPARO) enhances TurboID protein tagging #neuroscience Photo = @christinaramelow.bsky.social, Link = @natcomms.nature.com www.nature.com/articles/s41...

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Emory Department of Human Genetics @emorygenetics.bsky.social · 30/03/2026

Astrocytes, once viewed as passive support cells in the brain, can become cells that regulate the immune system, Emory researchers led by @sloanlab.bsky.social have demonstrated. The results are published in Neuron -- @cp-neuron.bsky.social www.cell.com/neuron/abstr... 1/3

When exposed to inflammatory signals, astrocytes can display MHC class II complexes needed for antigen presentation

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Emory Department of Human Genetics @emorygenetics.bsky.social · 20/03/2026

Pleased to welcome Meredith Fuchs (middle in photo) to our combined Pediatrics/Medical Genetics residency program #EmoryMatchDay

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Emory Department of Human Genetics @emorygenetics.bsky.social · 27/01/2026

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/...

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Emory Department of Human Genetics @emorygenetics.bsky.social · 09/12/2025

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...

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Emory Department of Human Genetics @emorygenetics.bsky.social · 04/12/2025

We are looking forward to hear Elizabeth Berry-Kravis, leading #fragilex clinician and researcher today #neuroscience #clinicaltrials #autism

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Emory Department of Human Genetics @emorygenetics.bsky.social · 02/12/2025

Check out our Q+A with a parent of a child with a metabolic disorder. #rarediseases @nordrare.bsky.social med.emory.edu/departments/...

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Emory Department of Human Genetics @emorygenetics.bsky.social · 20/11/2025

Elizabeth Berry-Kravis will be our 2025 Warren Distinguished Lecturer on December 4 -- Especially appropriate b/c EBK is leading clinician studying #fragilex syndrome

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Emory Department of Human Genetics @emorygenetics.bsky.social · 20/10/2025

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

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Emory Department of Human Genetics @emorygenetics.bsky.social · 20/10/2025

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...

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Emory Department of Human Genetics @emorygenetics.bsky.social · 14/10/2025

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)

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Emory Department of Human Genetics @emorygenetics.bsky.social · 14/10/2025

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...

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Emory Department of Human Genetics @emorygenetics.bsky.social · 08/10/2025

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 · 12/09/2025

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-...

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Emory Department of Human Genetics @emorygenetics.bsky.social · 12/09/2025

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

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Emory Department of Human Genetics @emorygenetics.bsky.social · 12/09/2025

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 · 13/08/2025

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 · 26/06/2025

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 · 12/05/2025

Medical geneticist Paul Fernhoff collaborated with the late Cecelia Bellcross and Andrew Faucett to establish the training program, but passed away in 2011. He is fondly remembered for his colorful neckties and his ease of communication with patients and their families.

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Emory Department of Human Genetics @emorygenetics.bsky.social · 12/05/2025

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.

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Emory Department of Human Genetics @emorygenetics.bsky.social · 07/05/2025

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

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Emory Department of Human Genetics @emorygenetics.bsky.social · 28/04/2025

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

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Emory Department of Human Genetics @emorygenetics.bsky.social · 28/03/2025

.@sloanlab.bsky.social 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/...

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Emory Department of Human Genetics @emorygenetics.bsky.social · 28/03/2025

Dr. Rossana Sanchez Russo is dedicated to patients with rare diseases, bringing tireless enthusiasm and compassion to her work. A champion for the rare disease community, Dr. Sanchez Russo has led the department’s #RareDiseaseDay celebrations (link to patient story) news.emory.edu/stories/2024...

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Emory Department of Human Genetics @emorygenetics.bsky.social · 28/03/2025

Dr. Hong Li is a tireless advocate for patients with inborn errors of metabolism, providing compassionate, state-of-the-art care at CHOA and Emory Healthcare. Her passion for rare disorders drives her unwavering commitment to excellence. Advisor to GA state govt gov.georgia.gov/press-releas...

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Emory Department of Human Genetics @emorygenetics.bsky.social · 28/03/2025

Dr. Michael Gambello leads a dedicated multidisciplinary team in providing outstanding care to patients with genetic conditions. A passionate advocate and educator, he is deeply committed to ensuring timely, comprehensive care for every patient. 2/4

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Emory Department of Human Genetics @emorygenetics.bsky.social · 14/03/2025

Also for #RareDiseaseDay, we hosted a screening of the documentary "The Life You're Given." Both deeply sympathetic to its subject Sophie and unflinching when it came to the behavioral management of #PraderWilliSyndrome. Members of GA chapter of PWS Foundation were able to join us!

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Emory Department of Human Genetics @emorygenetics.bsky.social · 14/03/2025

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

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Emory Department of Human Genetics @emorygenetics.bsky.social · 27/02/2025

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

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Emory Department of Human Genetics @emorygenetics.bsky.social · 24/02/2025

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.

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Emory Department of Human Genetics @emorygenetics.bsky.social · 17/02/2025

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/...

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Emory Department of Human Genetics @emorygenetics.bsky.social · 03/02/2025

We were particularly interested in JPC's recent work on long-range genomic interactions in fragile X syndrome pmc.ncbi.nlm.nih.gov/articles/PMC...

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Emory Department of Human Genetics @emorygenetics.bsky.social · 03/02/2025

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

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Emory Department of Human Genetics @emorygenetics.bsky.social · 31/01/2025

Trio of events lined up to celebrate #RareDiseaseDay. They include a kickoff table event at EUH on February 27th, a screening of the Prader-Willi syndrome #PWS documentary "The Life You're Given" on the 28th, and a virtual symposium on March 7th. Details: med.emory.edu/departments/...

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Emory Department of Human Genetics @emorygenetics.bsky.social · 16/01/2025

Congratulations to our own Elizabeth Leslie, PhD, recipient of a Presidential Early Career Award for Scientists and Engineers (PECASE) -- her team uncovers genetic risk factors for orofacial clefts #genetics #craniofacial www.whitehouse.gov/ostp/news-up...

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Emory Department of Human Genetics @emorygenetics.bsky.social · 08/01/2025

Applications for the 2025 Next Gen high school internship program are open -- due by Feb 14 -- tell a HS student you know! #scienceeducation #internships #genesky med.emory.edu/departments/...

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Emory Department of Human Genetics @emorygenetics.bsky.social · 08/01/2025

This stage identified by studying human brain organoids -- thru collaboration w/ @winshipatemory.bsky.social neurosurgeons, astrocytes + patient-derived GBM cells were compared 2/3 #neuroscience #neuroskyence

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Emory Department of Human Genetics @emorygenetics.bsky.social · 18/12/2024

Congratulations to Julie Morris, RN for earning a DAISY Award for December 2024. The award recognizes nurses for exceptional care. Julie was nominated by our department’s 2022 recipient of the award, Margie Leathers, RN. www.daisyfoundation.org/about-daisy-...

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Emory Department of Human Genetics @emorygenetics.bsky.social · 03/12/2024

We are looking forward to Thursday's Warren lecture by Christopher Walsh @bostonchildrens.bsky.social on Somatic Mosaicism in Brain -- anticipating he may mention this paper: 🧬 #genesky pmc.ncbi.nlm.nih.gov/articles/pmi...

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Emory Department of Human Genetics @emorygenetics.bsky.social · 14/11/2024

We recognize and celebrate our hard-working genetic counselors! #IAmAGeneticCounselor med.emory.edu/departments/...

Genetic Counselor Awareness Day, November 14, 2024

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Emory Department of Human Genetics @emorygenetics.bsky.social · 24/06/2024

Emory Metabolic Camp for young women with PKU (phenylketonuria) and MSUD (maple syrup urine disease) celebrating 30th summer. Campers learn about nutrition, wellness, reproductive health news.emory.edu/stories/2024...

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Emory Department of Human Genetics @emorygenetics.bsky.social · 23/04/2024

Research from our dept on #genetherapy for #galactosemia is one of Journal of Inherited Metabolic Disease's top 10 most-cited papers #TopCitedArticle -- senior author Judy Fridovich-Keil is world expert on galactosemia #genesky 🧬https://onlinelibrary.wiley.com/doi/full/10.1002/jimd.12471

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Emory Department of Human Genetics @emorygenetics.bsky.social · 01/04/2024

Congratulations to our medical geneticists honored in Emory School of Medicine's 2024 Doctors Day: Michael Gambello, Juanita Neira Fresneda and Jaime Vengoechea Barrios emory-dohg-dispatch.beehiiv.com/p/2024-docto...

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Emory Department of Human Genetics @emorygenetics.bsky.social · 22/02/2024

New research from our dept! Weinshenker and colleagues show critical role of norepinephrine/dopamine in mouse behavioral responses to predator odor -- implications for understanding PTSD/anxiety and Toxoplasma gondii infection #neuroscience www.sciencedirect.com/science/arti...

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Emory Department of Human Genetics @emorygenetics.bsky.social · 09/02/2024

Emory's Brain Organoid Hub will hold 1st hands-on training course Oct 14-18, 2024. Lodging provided! Learn how to apply this powerful technique simulating human #brain development #neuroskyence brainorganoidhub.com/workshop

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Emory Department of Human Genetics @emorygenetics.bsky.social · 22/01/2024

Our own Dr Sanchez Russo reports on 1st potential enzyme replacement therapy for arginase 1 deficiency, in a multi-center RCT. Sponsor: Aeglea Biotherapeutics. #GeneSky 🧬https://clinicaltrials.gov/study/NCT03921541 www.thelancet.com/journals/ecl...

The results of this randomized clinical trial indicate that pegzilarginase is the first potential disease modifying treatment for arginase deficiency.

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Emory Department of Human Genetics @emorygenetics.bsky.social · 11/01/2024

New research from our department. When TDP-43 depleted from nucleus in neurodegenerative disorders such as #ALS, transposable elements (zombies of the genome) come alive. Bing Yao + colleagues describe how in Cell Reports paper. 🧬 #Genesky 1/4 pubmed.ncbi.nlm.nih.gov/38184854/

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Emory Department of Human Genetics @emorygenetics.bsky.social · 01/12/2023

Unveiling of portrait of founding chair Steven Warren. With Warren family, honored guests. Evan Eichler from U of Washington gave tour of most dynamic/challenging regions of human #genome

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Emory Department of Human Genetics @emorygenetics.bsky.social · 27/11/2023

Looking forward to hosting Evan Eichler from U of Washington for Warren Distinguished Lecture -- this Thursday!

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