Emily Schorer’s Post

Happy to share our recent publication in PNAS! Our study explored two mouse models of ABCA4 deficiency to mimic the genetic diversity seen in Stargardt-1 macular degeneration. Our findings reveal how these models, each representing different disease type, respond distinctly to therapeutic strategies to stabilize retinal health. We discovered that the models responded differently to a ceramide-lowering drug and an immunomodulatory drug, providing new insights into the complexity of Stargardt disease treatment. This research opens up potential new avenues for personalized therapies, highlighting the importance of understanding genetic variability in disease management. Proud of our team's contribution to advancing the field of retinal degenerative diseases! #StargardtDisease #ABCA4 #RetinalDegeneration #Ceramides More about our findings here: https://lnkd.in/g8qHmaFb

As the search for novel mechanisms in modulation of chronic immunopathology is going on globally, this article is surely worth a look. Kudos to the authors for the publication. To work with a TCR molecule opens up new vistas of knowledge both in terms of therapeutic manipulation as well as functional biomarkers. Especially GD T biology in the context of different tissue environments, may have lots of secret to uncover! #ibdresearch #chronicimmunopathology #gammadeltaTcells #tissueprotection #tissuesurveillance

#Preclinical studies aiming to assess #kidney function in models of kidney disease or in response to a test compound have traditionally included readouts such as serum creatinine and blood urea nitrogen. However, the use of #readouts that are more clinically relevant is highly encouraged, as this can help increase confidence in the test compound’s #EfficacyProfile by improving the translational value of the experimental studies. In our newest blog post we review the use of transdermal GFR measurements in assessing the progression of disease and therapeutic efficacy in #PreclinicalModels of kidney diseases. Click here to read the full blog post: https://lnkd.in/e4WqWNQa #NephrologyCRO #ADPKD #PKD #TransdermalGFR #TherapeuticExpertise #DrugDiscovery

🌟 Breakthrough Insights: IL1A and Autoimmune Diseases! 🧬 We’re excited to share our latest research on IL1A, investigating its role in inflammatory processes and immune responses. Our case-control study explores its association with rheumatoid arthritis and Alzheimer's disease, aiming to develop new therapeutic strategies for autoimmune disorders. This important work, achieved in collaboration with BioTrust labs and the Enzyme team, is driving us towards innovative treatments and a better understanding of autoimmune health. The enclosed picture is part of our meeting with Thermo Fisher to discuss how to gain more insights and execute this project in our own facility, with our own hands, using our advanced genomics platforms! 📊🔍 #IL1A #AutoimmuneResearch #Genomics #RheumatoidArthritis #AlzheimersDisease #HealthcareInnovation #Biotech #ScientificDiscovery

The Rare Disease Translational Center (#RDTC) at JAX is redefining #raredisease research by providing patients and families with an efficient path from diagnosis to therapy at scale. Learn more about the Center’s systematic approach in the film below which will be featured during #ASHG23:

This week at #ashg23, the JAX Rare Disease Translational Center is sharing how it is redefining #raredisease research. Check out our new video below!

A new way to activate a fat-related molecule in blood vessels may be a promising new strategy for treating coronary artery disease. Dr. Annarita Di Lorenzo and Dr. Onorina Laura Manzo of Weill Cornell Medicine showed that boosting levels of a sphingolipid called S1P in artery-lining endothelial cells slows the development and progression of coronary artery disease in a preclinical model. Sphingolipids are named for the enigmatic sphinx of ancient mythology because their inner workings and roles have perplexed scientists. In recent years, there has been increasing evidence of their relevance in coronary artery disease. In this new study, researchers sought a better understanding of those roles and sphingolipids’ potential as therapeutic targets. Despite the availability of cholesterol-lowering drugs and other interventions, coronary artery disease affects more than 20 million people in the United States alone; it is the leading cause of mortality worldwide. https://bit.ly/3w9ZFE4

𝐏𝐫𝐞𝐜𝐢𝐬𝐢𝐨𝐧 𝐦𝐞𝐝𝐢𝐜𝐢𝐧𝐞 𝐚𝐩𝐩𝐫𝐨𝐚𝐜𝐡 𝐢𝐬 𝐩𝐚𝐫𝐭𝐢𝐜𝐮𝐥𝐚𝐫𝐥𝐲 𝐜𝐫𝐮𝐜𝐢𝐚𝐥 𝐢𝐧 𝐩𝐞𝐝𝐢𝐚𝐭𝐫𝐢𝐜𝐬 𝐛𝐞𝐜𝐚𝐮𝐬𝐞 𝐜𝐡𝐢𝐥𝐝𝐫𝐞𝐧 𝐚𝐫𝐞 𝐧𝐨𝐭 𝐬𝐢𝐦𝐩𝐥𝐲 “𝐬𝐦𝐚𝐥𝐥 𝐚𝐝𝐮𝐥𝐭𝐬” By studying the genetic makeup of pediatric patients, researchers at Rady Children's Institute for Genomic Medicine are working to determine the most effective treatments for each individual child. This personalized approach can lead to better outcomes, fewer side effects, and faster recovery times. One exciting area of research at the institute is in the treatment of rare genetic disorders. By sequencing the genomes of children with these disorders, researchers can identify the underlying genetic mutations causing the condition. This information can then be used to develop targeted therapies that address the root cause of the disease, rather than just treating the symptoms. The work being done at Rady Children's Institute for Genomic Medicine is revolutionizing pediatric medicine. By taking a precision medicine approach, researchers are able to provide personalized care to children tailored to their unique genetic makeup, leading to better outcomes and improved quality of life. #Pediatrics #PrecisionMedicine #PersonalizedCare

In a recent study, Omar Saldarriaga et al used Multiplex IF (PhenoImager, Akoya Biosciences, Inc.) and Phenoplex to investigate macrophage populations in chronic “fatty” liver disease. Their focus was to compare patient groups with minimal or advanced fibrosis.   How did they do it? By utilizing t-SNE plots and Phenotype Maps, they identified and compared 30 different phenotypes between these patient groups.   Their work showcases the power of Multiplex IF and Phenoplex in advancing medical research.   Figure 3. Visiopharm phenotype maps (D-F) with corresponding t-SNE plots (G-I) and phenotype map (J) are shown. Read the article here: https://lnkd.in/eSs-w3a4 #liverdiseaseresearch #phenoplex 

The use of the Maestro MEA is becoming a standard tool for characterizing iPSC-derived cell lines in neurodegenerative disease research