A new study reveals how a deficient ELP1 gene predisposes children to SHH-medulloblastoma, a subtype of malignant pediatric brain tumor. Researchers identified an MDM2-targeted therapy that reawakens the anticancer protein p53, potentially extending survival in model systems.
Richard Finkel, MD, is named to TIME100 Health for his pioneering work in treating spinal muscular atrophy prenatally with the orally administered drug risdiplam. This breakthrough has shown promising results, with no identifiable features of SMA observed two years after treatment.
Scientists at St. Jude Children's Research Hospital created a cortical organoid model for the rare disorder UBA5-associated encephalopathy, revealing stunted GABAergic interneuron growth and imbalance in neuronal excitation and inhibition. The model suggests boosting the expression of the existing partially functioning copy of UBA5 may...
Scientists developed a data science framework to understand how cells travel through the body by analyzing chemokines and G protein-coupled receptors. They found that specific positions in structured and disordered regions determine how these proteins bind, allowing for rational alteration of cell migration.
Scientists at St. Jude Children's Research Hospital discovered FOXR2 activation in multiple pediatric CNS tumor types, including high-grade gliomas and pineoblastomas, with significantly different clinical outcomes. The study highlights the importance of combining molecular findings with other diagnostic approaches to improve treatment...
Researchers at St. Jude Children's Research Hospital have designed a new drug framework that selectively targets the CYP3A4 enzyme, reducing off-target effects. The discovery provides a roadmap for future drug developers to better evaluate drug interactions and selectively target CYP proteins.
Researchers used cryo-electron microscopy to visualize the dynamic motion of a human chromatin remodeler in action, capturing 13 distinct structures that reveal the full picture of nucleosome sliding. This comprehensive view sheds light on how chromatin remodeling affects gene access and expression.
A new study finds that more than half of all pediatric cancer deaths occur in regions of armed conflict, with a significant impact on diagnosis and treatment. Conflict disrupts healthcare systems, leading to delays and increased mortality risk.
Researchers at St. Jude Children's Research Hospital found that removing the 'signal jammer' protein VDAC2 can improve how tumors respond to immunotherapy. This breakthrough could lead to new ways to enhance immunotherapies and make them more effective in treating resistant cancers.
Scientists at St. Jude Children's Research Hospital found that frequently used flu antivirals do not work well against the H5N1 avian influenza virus in cows' milk. The study showed that reducing infection risk through methods like avoiding raw milk and minimizing dairy farm workers' exposures may be more effective interventions.
Researchers have developed a computational tool, Spotiphy, that uses generative AI to enhance the resolution of sequencing-based spatial transcriptomics without sacrificing gene coverage. This breakthrough enables single-cell resolution in tissue imaging while maintaining full transcriptome coverage.
Scientists repurposed the drug edaravone as an imaging probe to detect oxidative stress in brain tissue using PET scans. This technique can help diagnose neurological conditions such as ALS and Alzheimer's disease earlier, when treatment is more effective.
Scientists at St. Jude Children's Research Hospital have uncovered the mechanism by which retinoic acid selectively kills metastatic neuroblastoma cells, using a novel pathway to trigger cancer cell death. The findings have implications for future combination therapy approaches.
A pioneering study demonstrates the feasibility of treating SMA prenatally using risdiplam, a drug administered to an expectant mother during pregnancy. No identifiable features of SMA have been observed in a 2.5-year-old child, suggesting a promising outcome for future research.
Elizabeth Hillman, a pioneer in imaging method development, is leading the new Department of Imaging Sciences at St. Jude Children's Research Hospital. The department aims to develop innovative new imaging and measurement approaches that will enable groundbreaking scientific studies and improve patient care.
Researchers at St. Jude Children's Research Hospital developed a machine-learning algorithm capable of scaling with single-cell data repositories to deliver more accurate results. The new method, called CSI-GEP, uses unsupervised machine learning to remove bias from analyses, producing better results than existing methods.
Developing neurons rely on multiple signaling pathways to migrate from the germinal zone. An antagonistic circuit between Netrin-1 'pushing' and Siah2 'pulling' ensures proper cerebellum development by balancing adhesion and guidance cues.
Researchers created a whole-brain atlas to visualize regions of the brain connected to V1 interneurons, a group of cells necessary for movement. The findings provide a framework to further understand the anatomical landscape of the nervous system and how the brain communicates with the spinal cord.
Researchers at St. Jude Children's Research Hospital have developed a novel solution to analyze the vast amounts of data generated by synthesizing large collections of new molecules. By using fragmentation patterns as universal barcodes, they can remove a key bottleneck in small molecule synthesis and screening.
Maria Megdal joins St. Jude Children's Research Hospital as executive vice president and chief administrative officer, overseeing key departments and ensuring operational excellence. She brings extensive experience in hospital operations from major cancer centers in Boston and New York.
Scientists at St. Jude Children's Research Hospital found a link between the chromosomal disorder 22q11.2 deletion syndrome and schizophrenia, with malformations in the cerebellum causing Tbx1 gene loss leading to improper skull formation.
A study by St. Jude Children's Research Hospital has identified a serum protein panel test that accurately predicts cardiomyopathy risk in childhood cancer survivors. The test, using a panel of 27 proteins, was tested on 46 survivors and correctly predicted risk in 38 cases.
Georgios Skiniotis joins St. Jude as a faculty member in structural biology, establishing a Center of Excellence for Structural Cell Biology. The center will advance understanding of cell biology from atomic to micron scales using cryo-ET and vEM imaging.
Researchers at St. Jude Children's Research Hospital identified a key role for glutamine in red blood cell development and disease. Glutamine metabolism plays a critical role in removing toxic byproducts, such as ammonium, that can accumulate during heme production.
Researchers discovered that p14<sup>ARF</sup> activates tumor suppression by forming gel-like assemblies in the nucleolus, disrupting ribosome production and cell toxicity. This process contributes to cancer cell death, providing a new mechanism for tumor suppression.
Scientists at St. Jude Children's Research Hospital found that nutrient availability affects T cell development and mitochondrial activity, inhibiting T cell formation in lysosomes. The study highlights the crucial role of organelle signaling, such as mitochondrial and lysosomal function, in shaping tissue immunity.
Researchers found that disrupting the Asxl1 gene in T cells improved sensitivity to immune checkpoint blockade and enabled long-term tumor control. This discovery is a critical advancement for the field, allowing for further engineering of T cells with durable anti-tumor responses.
Scientists at St. Jude Children's Research Hospital studied the structure of Fanzor2, a eukaryotic genome-editing protein, to understand its potential for gene editing. The findings reveal that Fanzor2 has a unique RNA-guided nuclease system, which could be harnessed to create more functional and smaller proteins.
Researchers at St. Jude Children's Research Hospital found that patients with ETV6::RUNX1 and high-hyperdiploid B-ALL can achieve positive outcomes with low-intensity chemotherapy, tailoring treatment based on genetic subtypes and early treatment response. This approach reduces side effects and improves event-free survival rates.
Scientists at St. Jude Children's Research Hospital have elucidated the structural mechanism of URAT1, a protein linked to gout, using cryo-electron microscopy. The findings reveal how URAT1 transports urate and offer new insights for developing more effective treatments for gout.
Scientists discovered that T follicular helper cells indirectly control the anti-influenza response, leading to less effective immunity. The study found that the current flu vaccine formulation could be improved by excluding internal proteins and targeting surface proteins.
Researchers found that approximately 60% of genetic changes driving T-ALL cancer cells are non-coding changes, significantly altering the understanding of disease biology. This leads to innovative treatments, including new immunotherapies developed at CHOP and St. Jude.
Researchers discovered novel genetic variations that influence relapse risk in children with standard-risk B-cell acute lymphoblastic leukemia (SR B-ALL). The study highlights the importance of genomic profiling in accurately determining patient risk and tailoring treatment intensity.
Researchers found high expression of OLAH linked to fatal disease outcomes, while low levels were associated with recovery. The enzyme drives severe disease through inflammatory responses and fatty acid production.
Scientists at St. Jude Children's Research Hospital found a link between a SARS-CoV-2 protein and the onset of multisystem inflammatory syndrome in children (MIS-C). A region of the SARS-CoV-2 nucleocapsid protein shares high sequence and immunogenic similarities to human protein SNX8, sparking an inflammatory response.
Researchers at St. Jude Children's Research Hospital have discovered DNA methylation patterns that help identify the root cause of developmental and epileptic encephalopathies, a condition affecting 1 in 590 children. The findings provide a new tool for diagnosing children with DEE and could lead to more effective treatments.
Scientists at St. Jude Children's Research Hospital identified age-related differences in B-ALL treatment outcomes, with children being more sensitive to certain drugs. The study suggests that both age and individual genomics must be considered to predict treatment response, leading to the need for tailored treatment strategies.
Scientists at St. Jude Children's Research Hospital identified two chemokines, CXCL8 and CXCL16, expressed by osteosarcoma that improved CAR T-cell homing. Modified cells expressing these chemokine receptors showed enhanced infiltration into tumors, leading to prolonged survival in a model of metastatic disease.
The St. Jude gene panel is a cost-effective test that categorizes childhood malignancies and guides patient treatment by sequencing 0.15% of the human genome. The panel outperforms existing cancer gene panels, providing 90% coverage of pediatric cancer driver genes.
Researchers found that hyperactivated neurons drive cancer proliferation and that serotonin uptake by ependymoma cells promotes tumor growth. Inhibiting this process blocked tumor growth, opening doors for drug discovery.
Biomolecular condensates exhibit unique material properties tied to protein sequences, including viscoelastic behavior and aging processes. The study quantifies interaction timescales, explaining how proteins within condensates arrange into fibrils over time.
Scientists at St. Jude Children's Research Hospital have reclassified Foxp3 as a transcriptional cofactor, revealing its reliance on DNA-binding proteins to regulate the immune system. This discovery has significant implications for future T-cell engineering and potentially treating autoimmune diseases.
St. Jude researchers found that early surveillance after genetic predisposition discovery detects new, treatable tumors in 70% of cases. This approach can avoid chemotherapy and radiation, improving outcomes for children with cancer.
Researchers at St. Jude Children's Research Hospital have developed a way to mitigate long-lived triplet dark states in smFRET, significantly increasing the method's resolution for molecular imaging. This advancement enables direct visualization of biomolecules' functions and dynamics, crucial for understanding biological processes and...
Scientists at St. Jude Children's Research Hospital discovered that NLRC5 plays a crucial role as an innate immune sensor, triggering PANoptotic cell death. The findings suggest that targeting NLRC5 could lead to therapeutic development for infections, inflammatory diseases, and aging.
Researchers discovered that T-cell aging is not limited by organismal age, and healthy T cells can proliferate indefinitely. The epigenetic clock of T cells shows that death is not the end, and these cells do not plateau with age, defying traditional notions of cellular aging.
Researchers at St. Jude Children's Research Hospital found that a 'Goldilocks' binding strength between T-cell receptors and cancer proteins determines anti-cancer T-cell efficacy. The optimal middle-ground binding strength creates cancer-killing effector cells, while too little or too much stimulation leads to exhaustion.
ConVERGD, a new tool developed by St. Jude Children's Research Hospital scientists, enables precise manipulation of cellular subpopulations for studying specific behaviors. This breakthrough technology has the potential to revolutionize fundamental research and healthcare.
Researchers reveal key findings on the ADAM17/iRhom2 complex, shedding light on its role in controlling signaling molecules. The study's structures show that iRhom2 acts as a gatekeeper to ADAM17 lifecycle, interacting with key regions of the protease.
Scientists at St. Jude Children's Research Hospital have designed novel PXR inhibitors that can block the activity of pregnane X receptor, a key regulator of drug metabolism. The study provides new insights into the relationship between compounds that activate and inhibit PXR, with implications for designing more effective therapeutics.