Category: Disease Discoveries
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Targeting Protein Synthesis Control Regions May Reduce Seizures in Genetic Epilepsy
Targeting the control of protein synthesis in the KCNQ2 gene may serve as a potential disease-modifying strategy for patients with a genetic form of neonatal-onset epilepsy and impaired brain development, according to a Northwestern Medicine study published in Proceedings of the National Academy of Sciences.
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Extreme Heat Linked to 33 Diagnoses That Go Beyond Dehydration, Heat Stroke
A new Northwestern University study suggests that extreme heat is linked to a much wider range of health problems seen in emergency departments and urgent care clinics than previously expected.
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Enzyme Utilizes Specialized Mechanisms to Promote Cancer Cell Proliferation
A new Northwestern Medicine study has identified a previously unknown mechanism by which the NAT10 enzyme promotes cancer cell proliferation, establishing this protein as a promising therapeutic target for cancer.
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Novel Stem Cell Platform Improves Study of Endometriosis
Scientists led by Julie Kim, PhD, have developed a novel stem cell platform that provides a new way to study the biology of endometriosis in humans more accurately than current model systems, as detailed in a recent study published in Science Advances.
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New Cellular Clues to Complications of Scleroderma
A recent Northwestern Medicine study published in JCI Insight has uncovered new clues about why people with systemic sclerosis, also known as scleroderma, frequently develop debilitating esophageal complications.
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Oxidative Stress Drives Rare Disease Flare-ups, Study Finds
Northwestern Medicine scientists have uncovered a mechanism that may explain why people with Darier disease, a rare genetic skin disorder, often develop symptoms years after birth and experience painful flare-ups triggered by heat, sunlight and psychological stress.
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Tumor-Like Tissue Environments Could Hold Clues to Curing HIV
The tissue microenvironments surrounding HIV-infected immune cells look a lot like those surrounding cancerous tumors, according to a new Northwestern study.
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Improving Stroke Care and Innovation
Every 40 seconds, someone in the U.S. has a stroke, according to the Centers for Disease Control and Prevention. Investigators at Feinberg are working from multiple angles of the stroke care pathway, leading to research that may improve recovery after a stroke occurs.
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Noncoding DNA Regions Drive Development of Neurodevelopmental Disorders
A new study from the laboratory of Gemma Carvill, PhD, has uncovered variants in noncoding regulatory regions of the genome that contribute to the development of neurodevelopmental disorders, findings that could help spearhead the development of more effective precision therapeutic strategies.
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Exploring Genetic Differences in Parkinson’s Disease by Ancestry
A landmark international study has found that the genetic drivers of Parkinson’s disease can vary dramatically between populations, underscoring the need to include people of various ancestries in genetic research and clinical trials.
