Mount Sinai Genetics
@sinaigenetics.bsky.social
We are shaping the future of genomic research, medicine, and education in the largest, most diverse healthcare system in New York City. 🧬
https://www.flowcode.com/page/sinaigenetics
https://www.flowcode.com/page/sinaigenetics
Gut microbiome tests are everywhere - but the evidence is still early.
AP News features insights from Gang Fang, PhD, on what current microbiome tests can and can’t tell us, and why stronger data is needed before they can guide care.
🔗 apnews.com/video/gut-mi...
AP News features insights from Gang Fang, PhD, on what current microbiome tests can and can’t tell us, and why stronger data is needed before they can guide care.
🔗 apnews.com/video/gut-mi...
Gut microbiome tests are everywhere. Should you get one?
At-home tests of the gut's microbiome are trending, but doctors say the technology is getting ahead of medical knowledge.
apnews.com
November 18, 2025 at 10:21 PM
Gut microbiome tests are everywhere - but the evidence is still early.
AP News features insights from Gang Fang, PhD, on what current microbiome tests can and can’t tell us, and why stronger data is needed before they can guide care.
🔗 apnews.com/video/gut-mi...
AP News features insights from Gang Fang, PhD, on what current microbiome tests can and can’t tell us, and why stronger data is needed before they can guide care.
🔗 apnews.com/video/gut-mi...
Proud to share that three Sinai Genetics and Genomics faculty have been named Clarivate Highly Cited Researchers 2025:
• José Clemente, PhD
• Guo-Cheng Yuan, PhD
• Bin Zhang, PhD
Their work spans #microbiome science, systems #genomics, single-cell biology, and AI-enabled disease modeling.
• José Clemente, PhD
• Guo-Cheng Yuan, PhD
• Bin Zhang, PhD
Their work spans #microbiome science, systems #genomics, single-cell biology, and AI-enabled disease modeling.
November 17, 2025 at 5:10 PM
Proud to share that three Sinai Genetics and Genomics faculty have been named Clarivate Highly Cited Researchers 2025:
• José Clemente, PhD
• Guo-Cheng Yuan, PhD
• Bin Zhang, PhD
Their work spans #microbiome science, systems #genomics, single-cell biology, and AI-enabled disease modeling.
• José Clemente, PhD
• Guo-Cheng Yuan, PhD
• Bin Zhang, PhD
Their work spans #microbiome science, systems #genomics, single-cell biology, and AI-enabled disease modeling.
Adults with genetic conditions often spend years searching for answers. At Mount Sinai’s Adult Genetics Program, our team helps connect those answers — bringing clarity, coordinated care, and hope.
🎥 Meet our team: youtu.be/GO8-jahZXS4 #MedicalGenetics #GeneticCounseling
🎥 Meet our team: youtu.be/GO8-jahZXS4 #MedicalGenetics #GeneticCounseling
Inside Mount Sinai’s Adult Genetics Program
YouTube video by Mount Sinai Genetics and Genomic Sciences
youtu.be
October 27, 2025 at 1:42 PM
Adults with genetic conditions often spend years searching for answers. At Mount Sinai’s Adult Genetics Program, our team helps connect those answers — bringing clarity, coordinated care, and hope.
🎥 Meet our team: youtu.be/GO8-jahZXS4 #MedicalGenetics #GeneticCounseling
🎥 Meet our team: youtu.be/GO8-jahZXS4 #MedicalGenetics #GeneticCounseling
Mount Sinai researchers mapped one of the most detailed protein networks of the brain to date — revealing how cell communication falters in #Alzheimers and spotlighting AHNAK as a key player. www.mountsinai.org/about/newsro... #AlzheimersDisease #AlzheimersResearch
September 26, 2025 at 5:25 PM
Mount Sinai researchers mapped one of the most detailed protein networks of the brain to date — revealing how cell communication falters in #Alzheimers and spotlighting AHNAK as a key player. www.mountsinai.org/about/newsro... #AlzheimersDisease #AlzheimersResearch
Rare disease community members are invited to join us with NORD and NORD Centers of Excellence for a special day of connection, fun, and education at the Bronx Zoo! Saturday, October 4, 10am-1pm, Register Today! www.surveymonkey.com/r/S2T7HSM #RareDiseases #RareDiseaseCommunity
September 9, 2025 at 3:25 PM
Rare disease community members are invited to join us with NORD and NORD Centers of Excellence for a special day of connection, fun, and education at the Bronx Zoo! Saturday, October 4, 10am-1pm, Register Today! www.surveymonkey.com/r/S2T7HSM #RareDiseases #RareDiseaseCommunity
The Genomics Preprint Club (www.genomicspreprints.com), led by early-career researchers from our department, is rethinking peer review in #genomics. By critically evaluating preprints, they’re shaping the future of scientific publishing. #GenomicsPreprintClub #ECRvoices bsky.app/profile/geno...
September 8, 2025 at 4:52 PM
The Genomics Preprint Club (www.genomicspreprints.com), led by early-career researchers from our department, is rethinking peer review in #genomics. By critically evaluating preprints, they’re shaping the future of scientific publishing. #GenomicsPreprintClub #ECRvoices bsky.app/profile/geno...
AI + routine labs help clarify genetic risk. Mount Sinai modeled 1,600 variants across 10 diseases using 1M+ health records, moving past binary labels. www.mountsinai.org/about/newsro... #precisionmedicine #genetics #AIinHealthcare #AIinMedicine
August 28, 2025 at 7:12 PM
AI + routine labs help clarify genetic risk. Mount Sinai modeled 1,600 variants across 10 diseases using 1M+ health records, moving past binary labels. www.mountsinai.org/about/newsro... #precisionmedicine #genetics #AIinHealthcare #AIinMedicine
New study shows Viagra & Cialis may help treat #MitochondrialDisease. Tadalafil improved cell function & symptoms in patients, offering a potential personalized therapy using already-approved drugs www.sciencedirect.com/science/arti...
#DrugRepurposing #Genetics #RareDisease
#DrugRepurposing #Genetics #RareDisease
Phosphodiesterase type 5 inhibition as a therapeutic strategy in primary mitochondrial disease: Evidence from patient fibroblasts and clinical observations
Primary mitochondrial diseases are a heterogeneous group of disorders caused by impaired mitochondrial respiratory chain function due to pathogenic va…
www.sciencedirect.com
July 28, 2025 at 8:34 PM
New study shows Viagra & Cialis may help treat #MitochondrialDisease. Tadalafil improved cell function & symptoms in patients, offering a potential personalized therapy using already-approved drugs www.sciencedirect.com/science/arti...
#DrugRepurposing #Genetics #RareDisease
#DrugRepurposing #Genetics #RareDisease
A comprehensive phenotypic & genotypic review of GMPPA‑CDG, analyzing 26 cases. Key insights: novel genotype‑phenotype correlations, expanded clinical spectrum. Findings pave way for improved diagnostic precision & therapeutic strategies: www.sciencedirect.com/science/arti... #CDG #RareDisease
July 24, 2025 at 4:29 PM
A comprehensive phenotypic & genotypic review of GMPPA‑CDG, analyzing 26 cases. Key insights: novel genotype‑phenotype correlations, expanded clinical spectrum. Findings pave way for improved diagnostic precision & therapeutic strategies: www.sciencedirect.com/science/arti... #CDG #RareDisease
A newborn w/a rare liver disorder just became the first patient to receive a personalized #CRISPR -based #geneediting treatment. "We are at day one of the future of how we are going to treat different diseases," said Brian Brown of Icahn Genomics Institute www.cbsnews.com/news/infant-...
Infant becomes world's first patient to undergo personalized gene-editing treatment
KJ Muldoon became the first patient to undergo personalized CRISPR treatment, a therapy that found the one uniquely mutated gene out of 20,000 in his little body, and fixed it.
www.cbsnews.com
May 16, 2025 at 2:40 PM
A newborn w/a rare liver disorder just became the first patient to receive a personalized #CRISPR -based #geneediting treatment. "We are at day one of the future of how we are going to treat different diseases," said Brian Brown of Icahn Genomics Institute www.cbsnews.com/news/infant-...
One patient. Two rare diseases: This case of combined PGM1-CDG & Leigh syndrome reveals the devastating metabolic effects when energy production & glycosylation pathways both fail. A poignant reminder of the complexity behind rare disease. www.mdpi.com/2073-4409/14... #rarediseases
www.mdpi.com
April 28, 2025 at 3:00 PM
One patient. Two rare diseases: This case of combined PGM1-CDG & Leigh syndrome reveals the devastating metabolic effects when energy production & glycosylation pathways both fail. A poignant reminder of the complexity behind rare disease. www.mdpi.com/2073-4409/14... #rarediseases
🧠🍺 Pint of Science is coming to NYC May 19–21! Don’t miss Dr. Eva Morava on May 19 as she explores how sugar antennas shape our health. Three nights of science, stories, and pints at Slattery’s Midtown Pub. 🍻https://pintofscience.us/events/nyc #Pint25 @sinaibrain.bsky.social @pintofscience.us
April 22, 2025 at 7:33 PM
🧠🍺 Pint of Science is coming to NYC May 19–21! Don’t miss Dr. Eva Morava on May 19 as she explores how sugar antennas shape our health. Three nights of science, stories, and pints at Slattery’s Midtown Pub. 🍻https://pintofscience.us/events/nyc #Pint25 @sinaibrain.bsky.social @pintofscience.us
New study finds that germline variants - often overlooked in #cancer care - can shape tumor behavior and influence treatment response.
A step toward truly personalized #oncology. www.mountsinai.org/about/newsro... #PrecisionMedicine #Proteogenomics #Genomics #Genetics @zeynephg.bsky.social
A step toward truly personalized #oncology. www.mountsinai.org/about/newsro... #PrecisionMedicine #Proteogenomics #Genomics #Genetics @zeynephg.bsky.social
April 14, 2025 at 5:17 PM
New study finds that germline variants - often overlooked in #cancer care - can shape tumor behavior and influence treatment response.
A step toward truly personalized #oncology. www.mountsinai.org/about/newsro... #PrecisionMedicine #Proteogenomics #Genomics #Genetics @zeynephg.bsky.social
A step toward truly personalized #oncology. www.mountsinai.org/about/newsro... #PrecisionMedicine #Proteogenomics #Genomics #Genetics @zeynephg.bsky.social
New Nature Genetics study identifies RNU2-2 mutations as a cause of a severe neurodevelopmental disorder w/ #epilepsy. The same team previously linked RNU4-2 to NDDs, expanding the role of non-coding RNA genes in brain development: mountsinai.org/about/newsro... #genetics @naturegenet.bsky.social
April 10, 2025 at 2:17 PM
New Nature Genetics study identifies RNU2-2 mutations as a cause of a severe neurodevelopmental disorder w/ #epilepsy. The same team previously linked RNU4-2 to NDDs, expanding the role of non-coding RNA genes in brain development: mountsinai.org/about/newsro... #genetics @naturegenet.bsky.social
Case study in siblings with #ASMD shows earlier initiation of olipudase alfa led to better outcomes in ILD, organ size, and growth. Findings highlight the cumulative benefits of early ERT & support early diagnosis & intervention in pediatric patients. www.sciencedirect.com/science/arti...
Benefits of early intervention with olipudase alfa in symptomatic children with acid sphingomyelinase deficiency: A sibling case-comparison study
Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disease with multisystem complications including neurodegeneration, hepatosplenomegaly,…
www.sciencedirect.com
April 3, 2025 at 6:50 PM
Case study in siblings with #ASMD shows earlier initiation of olipudase alfa led to better outcomes in ILD, organ size, and growth. Findings highlight the cumulative benefits of early ERT & support early diagnosis & intervention in pediatric patients. www.sciencedirect.com/science/arti...
How can we advance treatment for all 190+ genetic defects that cause congenital disorders of glycosylation (CDG)? A new paper explores emerging therapies, clinical trial challenges, and scalable strategies for individualized care: onlinelibrary.wiley.com/doi/10.1002/... #CDG #RareDiseases
March 27, 2025 at 4:24 PM
How can we advance treatment for all 190+ genetic defects that cause congenital disorders of glycosylation (CDG)? A new paper explores emerging therapies, clinical trial challenges, and scalable strategies for individualized care: onlinelibrary.wiley.com/doi/10.1002/... #CDG #RareDiseases
Reposted by Mount Sinai Genetics
A HUGE CONGRATULATIONS to @ericjnestler.bsky.social on being named Interim Dean of the Icahn School of Medicine! As we express great enthusiasm for Dr. Nestler becoming Dean & the exciting time ahead, please join us in thanking Dean Charney for his extraordinary service & commitment to Mount Sinai.
March 25, 2025 at 9:21 PM
A HUGE CONGRATULATIONS to @ericjnestler.bsky.social on being named Interim Dean of the Icahn School of Medicine! As we express great enthusiasm for Dr. Nestler becoming Dean & the exciting time ahead, please join us in thanking Dean Charney for his extraordinary service & commitment to Mount Sinai.
The Mount Sinai Center for Undiagnosed Diseases is bringing answers to patients with unexplained conditions. CBS featured patient Rebecca Haber, who finally received a diagnosis for her #skeletaldysplasia. cbsnews.com/newyork/vide...
#GenomicMedicine #RareDiseases #RareDiseaseDay
#GenomicMedicine #RareDiseases #RareDiseaseDay
New Mount Sinai center aims to diagnose the undiagnosable
Friday is Rare Disease Day, raising awareness for millions of people living with rare and difficult to diagnose conditions. CBS News New York's Michael George shows us a new effort to finally give som...
cbsnews.com
March 3, 2025 at 4:27 PM
The Mount Sinai Center for Undiagnosed Diseases is bringing answers to patients with unexplained conditions. CBS featured patient Rebecca Haber, who finally received a diagnosis for her #skeletaldysplasia. cbsnews.com/newyork/vide...
#GenomicMedicine #RareDiseases #RareDiseaseDay
#GenomicMedicine #RareDiseases #RareDiseaseDay
Today is #RareDiseaseDay - a day to raise awareness and stand with the 300M+ people worldwide living with a rare disease. We’re dedicated to advancing research, improving diagnosis, & providing expert, compassionate care for rare disease patients. Awareness drives progress.
February 28, 2025 at 4:09 PM
Today is #RareDiseaseDay - a day to raise awareness and stand with the 300M+ people worldwide living with a rare disease. We’re dedicated to advancing research, improving diagnosis, & providing expert, compassionate care for rare disease patients. Awareness drives progress.
New findings from the #NIH-supported Porphyrias Consortium: Liver abnormalities are common in erythropoietic & X-linked protoporphyria (EPP/XLP), w/62.5% of deaths linked to #liverdisease, pointing to a need for early hepatic monitoring journals.lww.com/hepcomm/full... #Porphyria #RareDiseases
February 26, 2025 at 2:53 PM
New findings from the #NIH-supported Porphyrias Consortium: Liver abnormalities are common in erythropoietic & X-linked protoporphyria (EPP/XLP), w/62.5% of deaths linked to #liverdisease, pointing to a need for early hepatic monitoring journals.lww.com/hepcomm/full... #Porphyria #RareDiseases
Mount Sinai researchers have developed #iDOMO, a computational tool that predicts synergistic drug combinations by analyzing gene expression data. This breakthrough could accelerate new therapies for complex diseases like #cancer: www.mountsinai.org/about/newsro... #drugrepurposing
February 20, 2025 at 2:54 PM
Mount Sinai researchers have developed #iDOMO, a computational tool that predicts synergistic drug combinations by analyzing gene expression data. This breakthrough could accelerate new therapies for complex diseases like #cancer: www.mountsinai.org/about/newsro... #drugrepurposing
Our Summer Scholars Program offers a 10-week paid research experience for undergraduates who have faced challenges in their academic journey & aspire to careers in science. Open to #NYC-area students: icahn.mssm.edu/research/gen... #Genetics #ResearchInternship #SURP
February 11, 2025 at 9:22 PM
Our Summer Scholars Program offers a 10-week paid research experience for undergraduates who have faced challenges in their academic journey & aspire to careers in science. Open to #NYC-area students: icahn.mssm.edu/research/gen... #Genetics #ResearchInternship #SURP
10 years of groundbreaking research, innovation, & progress. Join us in celebrating a decade of discovery at Loeb Center for Alzheimer’s Disease—advancing science from fundamental research to exploring the transformative potential of AI www.youtube.com/watch?v=Z3lh... #AlzheimersResearch
A Decade of Discovery: 10 Years of Excellence at The Ronald M. Loeb Center for Alzheimer's Disease
YouTube video by Icahn School of Medicine
www.youtube.com
February 5, 2025 at 3:46 PM
10 years of groundbreaking research, innovation, & progress. Join us in celebrating a decade of discovery at Loeb Center for Alzheimer’s Disease—advancing science from fundamental research to exploring the transformative potential of AI www.youtube.com/watch?v=Z3lh... #AlzheimersResearch
Today, Dr. Alison Goate, Director of the Ronald M. Loeb Center for Alzheimer's Disease, opened the Center’s 10th Anniversary Symposium with a look at where we are today in #AlzheimersResearch, the past decade of the Center's growth, & an inspiring vision for the next 10 years @sinaibrain.bsky.social
February 4, 2025 at 2:55 PM
Today, Dr. Alison Goate, Director of the Ronald M. Loeb Center for Alzheimer's Disease, opened the Center’s 10th Anniversary Symposium with a look at where we are today in #AlzheimersResearch, the past decade of the Center's growth, & an inspiring vision for the next 10 years @sinaibrain.bsky.social
🧬🎙️ How do sugars shape our biology beyond energy? Dr. Eva Morava joins the Mind & Matter podcast to explore #glycosylation, its role in health, and treatments for congenital disorders of glycosylation (CDGs): mindandmatter.substack.com/p/glycosylat... #Genetics #CDG @mind-and-matter.bsky.social
Glycosylation, CDGs & Role of Sugars Beyond Energy Production | Eva Morava | 207
Download, watch, read, or listen to this podcast conversation
mindandmatter.substack.com
February 3, 2025 at 5:19 PM
🧬🎙️ How do sugars shape our biology beyond energy? Dr. Eva Morava joins the Mind & Matter podcast to explore #glycosylation, its role in health, and treatments for congenital disorders of glycosylation (CDGs): mindandmatter.substack.com/p/glycosylat... #Genetics #CDG @mind-and-matter.bsky.social