Mount Sinai Genetics

Biological insights into schizophrenia from ancestrally diverse populations Nature - Genome-wide association studies incorporating data for populations of African ancestry provide an expanded view of the genetic basis of schizophrenia, which has previously been studied...

Now out in @nature.com: Biological insights into schizophrenia from ancestrally diverse populations.

@sinaibrain.bsky.social @sinaigenetics.bsky.social cs.bsky.social @timbigdeli.bsky.social #CDNeurogenomics #MountSinaiPsych #MillionVeteranProgram and many collaborators
Read: rdcu.be/eZ7he

A new Nature Genetics Perspective compares three genetic disease risk models, reviews their evidence, and outlines strategies to distinguish which model fits different diseases best: www.nature.com/articles/s41... #geneticsresearch #precisionmedicine @paul-oreilly.bsky.social @natgenet.nature.com

Congenital Disorders of Glycosylation (CDG) Program at Mount Sinai: Maggie’s Story YouTube video by Mount Sinai Genetics and Genomic Sciences

Mount Sinai’s Congenital Disorders of Glycosylation (CDG) Program provides specialized care and research for patients with rare genetic conditions.
Hear Maggie’s story—and how expert care made a difference.
🎥 youtu.be/U6oAymF2qRc?...
#RareDisease #Genetics #CDG #MedicalGenetics

New white paper from the PROMISE Consortium outlines a research roadmap for predicting and preventing inflammatory bowel disease (IBD), drawing on insights across genomics, the microbiome, immune biology, and environmental factors.
www.sciencedirect.com/science/arti... #InflammatoryBowelDisease

V2P (Variant-to-Phenotype) is an AI model that connects genetic variants to predicted disease phenotypes—moving beyond pathogenicity alone and supporting more precise genetic diagnosis, particularly in rare disease www.mountsinai.org/about/newsro... #PrecisionMedicine #Genomics #RareDisease

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.

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...

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.

Inside Mount Sinai’s Adult Genetics Program YouTube video by Mount Sinai Genetics and Genomic Sciences

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

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

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

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…

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

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

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.

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

🧠🍺 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

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy - Nature Genetics Recurrent de novo mutations at nucleotide positions 4 and 35 of RNU2-2 cause a neurodevelopmental disorder whose prominent features include intellectual disability, developmental delay and a complex s...

“This cements the biological significance of a class of small non-coding genes in NDDs,” said first author Daniel Greene. Link to paper: www.nature.com/articles/s41... #neurogenetics #precisionmedicine #noncodingRNA #epilepsy #genetics #NDD

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

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,…

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

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.

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...

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

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

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

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

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