Mount Sinai Genetics
@SinaiGenetics
We are shaping the future of genomic research, medicine, and education in the largest, most diverse healthcare system in New York City. 🧬 #genetics #genomics
“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: modernhealthcare.com/opinion/mh-ai-… @modrnhealthcr #AIinHealthcare #precisionmedicine
🧠🍺 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. 🍻pintofscience.us/events/nyc #Pint25 #nycevents
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: sciencedirect.com/science/articl… #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 @IcahnInstitute cbsnews.com/news/infant-wo…
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. mdpi.com/2073-4409/14/9… #rarediseases
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: bit.ly/4jeWnCR @SinaiBrain @MountSinaiPsych @SinaiGenetics
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: hubs.la/Q03glPF80
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. mountsinai.org/about/newsroom… @ZeynepHG @EsaiMyvizhi #Genomics #Cancer #PrecisionMedicine #Proteogenomics
Congratulations to Brian Brown, on his Induction into the AIMBE College of Fellows! Brian Brown, PhD, Director of the Icahn Genomics Institute at Mount Sinai, has been elected to the American Institute for Medical and Biological Engineering (AIMBE) College of Fellows—one of the…
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. sciencedirect.com/science/articl…
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/ji… #RareDiseases #CDG
A HUGE CONGRATULATIONS to Dr. @EricJNestler on being named Interim Dean @IcahnMountSinai! 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 @MountSinaiNYC.
In #RareDiseases like #CDG, where symptoms & severity vary widely, what counts as progress can look different for every patient. A new study shows Goal Attainment Scaling tracks personal milestones, bringing patient voices into clinical trial outcomes sciencedirect.com/science/articl…
Congrats @JackHumphrey_ for “Long-read RNA sequencing atlas of human microglia isoforms elucidates disease-associated genetic regulation of splicing” now published in @NatureGenet @SinaiBrain @SinaiGenetics @towfiqueRaj @CDNeurogenomics nature.com/articles/s4158…
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/video/… #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.
We are delighted to see the publication of the 6th Ed of Charney & Nestler's Neurobiology of Mental Illness by Oxford Press.
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/fullte… #Porphyria
