Mount Sinai Genetics
@SinaiGenetics
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We are shaping the future of genomic research, medicine, and education in the largest, most diverse healthcare system in New York City. 🧬 #genetics #genomics
New York, NY
Joined February 2018
.@GradSchoolSinai: By the Numbers ✨Fully integrated w/ @IcahnMountSinai ✨#11 in @NIH funding: $495.1 M ✨Embedded in @MountSinaiNYC, one of the largest academic medical systems in NY metropolitan area 👉Here's a recap of who we are & how we excel: https://t.co/Oke3NntUOg
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Mount Sinai researchers have received a $25 million, five-year NIH grant to study Alzheimer’s disease risk among Chinese Americans—one of the fastest-growing yet most underrepresented populations in dementia research. Led by Drs. Clara Li, Jessica Spat-Lemus, Ankit Parekh, and
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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: https://t.co/HbG69W2W0o
#MedicalGenetics #GeneticCounseling
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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. https://t.co/X81ZgtU2tx
#AlzheimersDisease #AlzheimersResearch
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We’re honored to join the @BDSRA community as a Batten Disease Clinical Center of Excellence Affiliate, dedicated to supporting patients and families living with Batten disease. #RareDisease #BattenDisease
BREAKING: The BDSRA Foundation Announces @MountSinaiNYC as New Site in Clinical Centers of Excellence Program. đź”— https://t.co/KC29ENpKYB
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Congrats to Dr. Kuan-lin Huang & collaborator @wzehrakorkusuz named Phase 1 winners of the NIH/NEI S-Index Challenge! Their project proposes a new way to measure impact — crediting scientists for data that are high-quality, rapidly shared & reused to drive discovery. #openscience
Congratulations to the 10 teams recognized in the first phase of the @NIH S-Index Challenge, a competition aimed at promoting data sharing and developing a robust metric to reward data sharers. #NIHfunded Details: https://t.co/ttn2WOigbn
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Rare disease community members are invited to join us with @RareDiseases 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! https://t.co/2bYwgOIEcl
#RareDiseases #RareDiseaseCommunity
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AI + routine labs help clarify genetic risk. @SinaiGenetics modeled 1,600 variants across 10 diseases using 1M+ health records, moving past binary labels. https://t.co/7acY5aujr8
#precisionmedicine #genetics #AIinHealthcare #AIinMedicine @IainSForrest @DoGenetics
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Our new positioning paper is out! Collaborated with Dr. Amy Justice from @Yale and investigators from the #VA and #DOE to showcase how this partnership is driving innovation in #precisionhealth
https://t.co/ax37znZilr
@IcahnMountSinai @SinaiGenetics @AIHealthMtSinai @SinaiImmunol
medrxiv.org
Objective By personalizing healthcare to an individual’s specific requirements, precision health promises to maximize benefit and minimize harm, thereby maximizing value. We describe here, how in...
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NEW STUDY by @g_e_hoffman @panos_roussos, et al. @Icahnmountsinai presents transcriptional analysis of primary microglia from 189 human postmortem brains. These data further our understanding of key role #Microglia have in AD biology. OUT NOW @NatureNeuro
https://t.co/UzqwxsUEzx
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New @SinaiGenetics study shows Viagra & Cialis may help treat #MitochondrialDisease. Tadalafil improved cell function & symptoms in patients, offering a potential personalized therapy using already-approved drugs https://t.co/wjT0DjUuhq
#DrugRepurposing #Genetics #RareDisease
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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: https://t.co/ASiRtWupTv
#CDG #RareDisease
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“AI is not a luxury or a side pursuit in genomic medicine — it’s a necessity.” Inga Peter of @SinaiGenetics on how AI is helping unlock the full potential of #genomics to advance precision medicine: https://t.co/RvMsYPVCA3
@modrnhealthcr #AIinHealthcare #precisionmedicine
modernhealthcare.com
Artificial intelligence is accelerating clinical discoveries and expanding access to new treatment options — making healthcare truly personal.
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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 @IcahnInstitute
cbsnews.com
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.
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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. https://t.co/2ACSYV44wg
#rarediseases
mdpi.com
Inherited metabolic disorders (IMDs) are genetic disorders that occur in as many as 1:2500 births worldwide. Nevertheless, they are quite rare individually and even more rare is the co-occurrence of...
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🧠🍺 Pint of Science is coming to NYC May 19–21! Don’t miss Dr. Eva Morava of @SinaiGenetics 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://t.co/t1PXNHZDIH
#Pint25 #nycevents
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Coming Q4 2025 to the Target ALS Data Engine: the largest single-cell RNA-seq dataset for #ALS, funded by Target ALS and generated by Dr. @panos_roussos lab at @IcahnMountSinai: https://t.co/6Auz2zoyP1
@SinaiBrain @MountSinaiPsych @SinaiGenetics
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Interested in #LongReadSequencing? We are delighted that @GangFang_1 (Professor @IcahnMountSinai) is joining us at #FOGBoston, sharing insights on detecting DNA modifications using long read sequencing. Register now: https://t.co/a0MzT52RGU
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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. https://t.co/ZZ0kG4FBGi
@ZeynepHG @EsaiMyvizhi #Genomics #Cancer #PrecisionMedicine #Proteogenomics
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“This cements the biological significance of a class of small non-coding genes in NDDs,” said first author Daniel Greene. Link to paper: https://t.co/ecJiNAHg2W
#Neurogenetics #noncodingRNA #epilepsy #precisionmedicine
nature.com
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...
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