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Mount Sinai Genetics @sinaigenetics.bsky.social · 14d

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

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Mount Sinai Genetics @sinaigenetics.bsky.social · Sep 9

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

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Mount Sinai Genetics @sinaigenetics.bsky.social · Sep 8

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...

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Mount Sinai Genetics @sinaigenetics.bsky.social · Aug 28

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

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Mount Sinai Genetics @sinaigenetics.bsky.social · Jul 28

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…

www.sciencedirect.com

Mount Sinai Genetics @sinaigenetics.bsky.social · Jul 24

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

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Mount Sinai Genetics @sinaigenetics.bsky.social · May 16

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

Mount Sinai Genetics @sinaigenetics.bsky.social · Apr 28

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

Mount Sinai Genetics @sinaigenetics.bsky.social · Apr 22

🧠🍺 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

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Mount Sinai Genetics @sinaigenetics.bsky.social · Apr 14

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

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Mount Sinai Genetics @sinaigenetics.bsky.social · Apr 10

“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

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...

www.nature.com

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Mount Sinai Genetics @sinaigenetics.bsky.social · Apr 10

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

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Mount Sinai Genetics @sinaigenetics.bsky.social · Apr 3

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

Mount Sinai Genetics @sinaigenetics.bsky.social · Mar 27

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

The Friedman Brain Institute @sinaibrain.bsky.social · Mar 25

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.

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Mount Sinai Genetics @sinaigenetics.bsky.social · Mar 3

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

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

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Mount Sinai Genetics @sinaigenetics.bsky.social · Feb 28

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.

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Mount Sinai Genetics @sinaigenetics.bsky.social · Feb 26

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

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Mount Sinai Genetics @sinaigenetics.bsky.social · Feb 20

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

Mount Sinai Genetics @sinaigenetics.bsky.social · Feb 11

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

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Mount Sinai Genetics @sinaigenetics.bsky.social · Feb 5

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

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Mount Sinai Genetics @sinaigenetics.bsky.social · Feb 4

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

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Mount Sinai Genetics @sinaigenetics.bsky.social · Feb 3

🧬🎙️ 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

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Reposted by Mount Sinai Genetics

Science Friday @scifri.bsky.social · Jan 31

Researchers analyzed the genomes of over 158,000 people with bipolar disorder and identified 298 genomic regions linked to the condition.

Dr. Niamh Mullins joins us to discuss the findings and the potential for more targeted treatments.

Understanding Bipolar Disorder Through The Genome

New research pinpoints 298 parts of the genome associated with higher risk of bipolar disorder. This could lead to better treatments.

buff.ly

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Mount Sinai Genetics @sinaigenetics.bsky.social · Jan 29

Mount Sinai researchers and collaborators identified 298 genetic regions linked to #bipolardisorder, a 4x increase in known risk factors. This groundbreaking study across diverse ancestries revealed 36 key genes, paving the way for new drug targets and treatments: mshs.co/3CherMq #genomics

Genomics yields biological and phenotypic insights into bipolar disorder - Nature

Using multi-ancestry genome-wide association study and fine-mapping, 298 loci and 36 credible genes are identified in the aetiology of bipolar disorder.

mshs.co

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