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

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

🧠🍺 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

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

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

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

🧬Join us on March 7, 2025 for the Symposium on Novel Treatments in Inborn Errors of Metabolism:
💡 Updates on cutting-edge therapies
🎥 Special screening: The Low-Phe Life
🔗 Program & Registration: bit.ly/IEMsymposium
#InbornErrorsofMetabolism #MetabolicDisorders #RareDiseases