Department of Genetics and Genomic Sciences at Mount Sinai

Dr. Brian Brown is leading groundbreaking research in nucleic acid medicines, transforming the way we fight cancer and infectious diseases. By synthesizing RNA and DNA, his team is creating targeted therapeutics that tackle the genetic roots of diseases. From designing CAR-T cells for solid tumors to advancing mRNA vaccine technologies, this work is reshaping drug development and patient care. Mount Sinai Health System's unique integration of research and clinical teams accelerates the journey from bench to bedside, ensuring innovative treatments reach patients faster. Read more about this transformative work featured in Nature Magazine: https://lnkd.in/eHRAUPBu #Genomics #Immunotherapy #NucleicAcidMedicine #DrugDevelopment #CARTCellTherapy #GeneticsResearch Icahn School of Medicine at Mount Sinai

We are proud to share the recognition of five researchers from the Department of Genetics and Genomic Sciences at Mount Sinai on the 2024 Highly Cited Researchers list by Clarivate for Academia & Government. This prestigious acknowledgment highlights their exceptional influence and contributions to advancing genetics and genomics research globally. 🌍 Their work continues to shape the future of medicine and science, driving meaningful progress in understanding and treating complex diseases. Congratulations to our esteemed colleagues for this incredible achievement! 👏 Discover the full list of Highly Cited Researchers here: https://lnkd.in/grnCUJsX José Carlos Clemente Litrán Jeremiah Faith Alison Goate Guo-Cheng Yuan Bin Zhang Icahn School of Medicine at Mount Sinai #HighlyCited2024 #Genetics #Genomics #ResearchExcellence

Alison Goate's groundbreaking work in 1991 helped identify the "London mutation" in the amyloid precursor protein (APP) gene, which contributed to familial Alzheimer’s disease. Her discovery illuminated how this mutation promotes amyloid-β aggregation, advancing our understanding of the genetic factors behind Alzheimer’s pathogenesis. Learn more: https://lnkd.in/gaxFezMQ #AlzheimersDisease #AlzheimersResearch

Introducing KiNet: A New Web Portal Empowering Drug Discovery and Systems-Level Analysis of Critical Kinase-Substrate Interactions By integrating data from multiple public databases, KiNet enables the scientific community to visualize and study these interactions in systemwide contexts, enhancing the understanding of kinase functions and their implications in diseases like cancer, neurodegenerative disorders, and cardiovascular diseases. This portal is poised to advance research into complex cellular pathways and accelerate drug discovery efforts. 🔗 Learn More: https://lnkd.in/e5cYW9Ev 🔗 Explore KiNet: https://lnkd.in/eq7zC9py Gaurav Pandey, Avner Schlessinger #BiomedicalResearch #SystemsBiology #DrugDiscovery #Bioinformatics #PrecisionMedicine

A HUGE CONGRATULATIONS to the Icahn School of Medicine at Mount Sinai's Anna Podlesny-Drabiniok, PhD and Dr. Tatsuhiko Naito for being named BrightFocus Research Grant Awards recipients! The BrightFocus Foundation’s Alzheimer’s Disease Research program has funded more than $180 million in research to understand and cure #Alzheimers. Drs. Naito and Podlesny-Drabiniok, exceptional investigators who have been selected for their potential to bring us closer to cures by pursuing the untried, the unexpected, and the most promising ideas, represent the forefront of scientific research. Tatsuhiko Naito's research aims to unravel the genetic and molecular mechanisms of Alzheimer's disease using #MachineLearning that predicts the impact of genetic mutations on biological functions. Anna Podlesny-Drabiniok's project aims to validate computational predictions and characterize two candidate factors that may enhance the function of #Microglia in clearing cell debris associated with Alzheimer’s disease. CONGRATULATIONS Tatsuhiko and Anna! 🎉 👏 To learn more about their cutting-edge work, visit  https://lnkd.in/e9dQaJRT #FriedmanBrainInstitute #NashNeuroscience The Mount Sinai Hospital Graduate School of Biomedical Sciences at the Icahn School of Medicine Alison Goate Towfique Raj Eric J. Nestler, MD, PhD Paul Kenny, PhD

In this episode of Road to Resilience featuring Dr. Ibrahim Elsharkawi, Assistant Professor of Genetics and Genomics and Medical Biochemical Geneticist with the Department of Genetics and Genomic Sciences at Mount Sinai discusses the genetic and medical complexities of Down syndrome. He emphasizes the critical role of multidisciplinary collaboration in addressing the diverse medical and developmental needs of individuals with Down syndrome. Dr. Elsharkawi reflects on the resilience of patients and their families, highlighting the flexibility, optimism, and strength they demonstrate in navigating challenges, while underscoring the importance of providing comprehensive, compassionate care. Additionally, Dr. Elsharkawi speaks passionately about the hopes, desires, and capabilities of individuals with Down syndrome, underscoring the importance of recognizing their humanity, dreams, and potential—whether in personal relationships, professional settings, or as valued members of the community. 🎙️ Listen to the full episode: https://lnkd.in/eC_ixdCA This year Dr. Elsharkawi established a clinic dedicated to Down syndrome care at Mount Sinai: https://lnkd.in/eiZ_SYzH #DownSyndrome #Resilience #MedicalGenetics #Podcast Icahn School of Medicine at Mount Sinai Mount Sinai Health System

We're proud to share that the Mount Sinai Center for Undiagnosed Diseases has been established with a $3.26M grant from the National Institute of Neurological Disorders and Stroke (NINDS). Led by co-Principal Investigators Manisha Balwani, MD, MS, FACMG and Bruce Gelb, the new center will leverage cutting-edge genomic technologies to solve some of the most challenging undiagnosed conditions in children and adults. The Center will focus on identifying elusive diseases that have defied standard diagnostic approaches, using advanced genomics to explore new possibilities for diagnosis and treatment. In addition, the Center will collaborate with underrepresented communities to ensure equitable access to these specialized diagnostic services, addressing disparities in healthcare. This initiative is an important step forward in improving diagnostic precision and bringing hope to patients who have faced long and difficult diagnostic journeys. We are excited for the advancements this will bring to genomic medicine and patient care. Learn more: https://lnkd.in/ea7nE4gg #patientcare #rarediseases #genomics #genomicmedicine #precisionmedicine #precisionhealthcare

Applications are open to join our world class faculty ranked #2 nationally in NIH funding for genetics research at the Department of Genetics and Genomic Sciences at Mount Sinai. Positions are open for tenure-track or tenured faculty at the Assistant, Associate, or Full Professor levels. We are seeking exceptional candidates with research interests including: 1) Cancer Genetics; 2) Computational Biology; 3) Drug Development and Clinical Trials; 4) Functional Genomics; 5) Gene Editing and Cell Engineering; 6) Immunogenomics; 7) Microbial Genomics and Pathogen Surveillance; 8) Technology Development; 9) Neurogenomics; 10) Artificial Intelligence. Learn more and apply at: https://lnkd.in/e5Tpu-hE #OpenFacultyPositions #AcademicJobs #FacultyPositions #GeneticsResearch

We are incredibly proud of Christina LaMaire, MS, CGC, Genetic Counselor in our Division of Medical Genetics and Genomics, for receiving the 2024 Cullman Family Award for Excellence in Provider Communication. Her dedication to patient care exemplifies the essential role that clear, compassionate communication plays in genetic counseling and genetic medicine. Christina’s work strengthens our department and enhances the healthcare experience for all our patients. #patientcare #patientcommunication #geneticcounseling #geneticcounselor Icahn School of Medicine at Mount Sinai Mount Sinai Health System

🚨 New podcast Friday 🚨 🎙 In the latest episode of the JIMD Podcast, Dr Irena Muffels is joined by Professor Eva Morava-Kozicz to discuss insights into heterozygous DHDDS variants, an autosomal dominant IMD that appears to impact on multiple different metabolic pathways. Homozygous patients with DHDDS-CDG have been known about for the last decade or so but in the last 7 years, heterozygous patients have been reported, exhibiting a severe clinical phenotype and widespread metabolic perturbation. Professor Morava also highlights the work of Perlara PBC, a company working to rapidly identify existing drugs/compounds that may have a role in the management of CDGs. Listen on Apple 👉 https://lnkd.in/ehYy5x7q or search for JIMD Podcasts wherever you like to listen. Assessing age of onset and clinical symptoms over time in patients with heterozygous pathogenic DHDDS variants I. J. J. Muffels, M. Sadek, T. Kozicz, E. Morava Melanie Dixon Cure DHDDS Ethan Perlstein Department of Genetics and Genomic Sciences at Mount Sinai