Single-cell atlases guide biology and train AI, but who is represented? A study led by Kuan-lin Huang analyzed >13,500 samples: European ancestry was overrepresented, while Asian, African and Latino individuals were underrepresented. doi.org/10.1016/j.xg...

Congratulations to Supinda Bunyavanich, MD, MPH, MPhil, and Scott H. Sicherer, MD, on receiving a five-year, $7.2M NIH/NIAID grant to establish INROADS, a new center advancing precision medicine for peanut allergy treatment. www.mountsinai.org/about/newsro...

Mount Sinai Receives $7.2 Million NIH Grant to Advance Precision Medicine for Peanut Allergy Treatment

mountsinai.org

Patient-derived “mini-brains” helped reveal how DHDDS-related disease progresses and identify a potential treatment. Work from Eva Morava, MD, PhD, and collaborators shows the power of patient-driven rare disease research. www.drugdiscoverynews.com/patient-deri... #raredisease

Patient-derived mini brains reveal mechanism and treatment for rare genetic disease | Drug Discovery News

Dehydrodolichyl diphosphate synthase (DHDSS)-related disease has no available treatments. The new work could finally change that with nicotinamide mononucleotide (NMN).

drugdiscoverynews.com

New research in @nature.com finds that complex traits have distinct genetic architecture at their extremes, with rare variants playing an outsized role. The study introduces the POPout and STANDout methods, with implications for rare-variant discovery and prediction: www.nature.com/articles/s41...

How do gut bacteria survive disruption? New research shows that beneficial gut bacteria can switch between epigenetic states to survive stress, with implications for microbiome recovery and future therapies: www.mountsinai.org/about/newsro... @cp-cellhostmicrobe.bsky.social @gangfang.bsky.social

Researchers identified what appears to be the most common recessive neurodevelopmental disorder yet discovered. The study links RNU2-2 variants to a newly identified disorder that may improve diagnosis & inform future therapies. www.mountsinai.org/about/newsro... #RareDisease #Genetics

Proud to share that Mount Sinai faculty Kuan-lin Huang, Towfique Raj, & Bin Zhang were part of the Biomni-AD team awarded a $1 million Alzheimer’s Insights AI Prize. Congrats to collaborators and fellow grand prize winner Prima Mente. www.alzheimersdata.org/news/alzheim... #AlzheimersResearch

The Mount Sinai Down Syndrome Program provides holistic, coordinated care for children with Down syndrome and serves as a central resource for families navigating complex medical, developmental, and support needs. Learn more 📽️ youtu.be/Zt0XEt_-p1c #Downsyndrome #MedicalGenetics

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

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...

rdcu.be

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

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

Congenital Disorders of Glycosylation (CDG) Program at Mount Sinai: Maggie’s Story

YouTube video by Mount Sinai Genetics and Genomic Sciences

youtu.be

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 - 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...

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

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.

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

Inside Mount Sinai’s Adult Genetics Program

YouTube video by Mount Sinai Genetics and Genomic Sciences

youtu.be

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

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

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…

sciencedirect.com

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.

cbsnews.com

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

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,…

sciencedirect.com

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.