“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: @modrnhealthcr #AIinHealthcare #precisionmedicine.

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

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. #rarediseases.

🧠🍺 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. 🍻#Pint25 #nycevents

RT @TargetALS_fdn: Coming Q4 2025 to the Target ALS Data Engine: the largest single-cell RNA-seq dataset for #ALS, funded by Target ALS and….

RT @FLGenomics: Interested in #LongReadSequencing? We are delighted that @GangFang_1 (Professor @IcahnMountSinai) is joining us at #FOGBost….

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. @ZeynepHG @EsaiMyvizhi #Genomics #Cancer #PrecisionMedicine #Proteogenomics

“This cements the biological significance of a class of small non-coding genes in NDDs,” said first author Daniel Greene. Link to paper: #Neurogenetics #noncodingRNA #epilepsy #precisionmedicine.

New @NatureGenet study identifies RNU2-2 mutations as a cause of a severe neurodevelopmental disorder with #epilepsy. The same team previously linked RNU4-2 to NDDs, expanding the role of non-coding RNA genes in brain development: #NDD #genetics

RT @IcahnMountSinai: Congratulations to Brian Brown, on his Induction into the AIMBE College of Fellows!. Brian Brown, PhD, Director 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.

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: #RareDiseases #CDG

RT @SinaiBrain: A HUGE CONGRATULATIONS to Dr. @EricJNestler on being named Interim Dean @IcahnMountSinai! As we express great enthusiasm fo….

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

RT @panos_roussos: Congrats @JackHumphrey_ for “Long-read RNA sequencing atlas of human microglia isoforms elucidates disease-associated ge….

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. #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.

RT @EricJNestler: We are delighted to see the publication of the 6th Ed of Charney & Nestler's Neurobiology of Mental Illness by Oxford Pre….

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 #Porphyria

RT @NatureBiotech: Human respiratory airway progenitors derived from pluripotent cells generate alveolar epithelial cells and model pulmona….