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.
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...
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)
October 14, 2025 at 7:31 PM
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...
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/...
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-...
September 12, 2025 at 6:27 PM
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-...
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
September 12, 2025 at 6:24 PM
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...
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...
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/...
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.
May 12, 2025 at 5:58 PM
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.
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.
Books for children about rare diseases such as Fabry and Pompe by our GCTC (Genetic Clinical Trials Center) director Dawn Laney on display #rarediseases
May 7, 2025 at 6:09 PM
Books for children about rare diseases such as Fabry and Pompe by our GCTC (Genetic Clinical Trials Center) director Dawn Laney on display #rarediseases
We are honored to host Eric Green, former director of National Human Genome Research Institute, next week (noon, May 7, Whitehead auditorium) #GeneSky
April 28, 2025 at 7:53 PM
We are honored to host Eric Green, former director of National Human Genome Research Institute, next week (noon, May 7, Whitehead auditorium) #GeneSky
.@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/...
med.emory.edu/departments/...
March 28, 2025 at 4:15 PM
.@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/...
med.emory.edu/departments/...
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...
March 28, 2025 at 3:07 PM
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...
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...
March 28, 2025 at 3:05 PM
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...
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
March 28, 2025 at 3:03 PM
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
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!
March 14, 2025 at 1:30 PM
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!
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
March 14, 2025 at 1:27 PM
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/...
February 27, 2025 at 3:11 PM
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.
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.
February 24, 2025 at 3:36 PM
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.
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/...
February 17, 2025 at 7:41 PM
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/...
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...
February 3, 2025 at 6:52 PM
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...
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
February 3, 2025 at 6:48 PM
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