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Scientific American article highlights UMMS research that led to the discovery of ciliopathies Scientific American article highlights UMMS research that led to the discovery of ciliopathies Jim Fessenden UMass Medical School Communications A news article by Scientific American explains how research at UMMS led to the discovery that cilia dysfunction causes polycystic kidney disease. A news article by Scientific American explains how research at UMMS led to the discovery that cilia dysfunction causes

Research by Sumeda Nandadasa, PhD, a scientist at UMass Chan, uncovers a molecular mechanism affecting ciliopathies such as Meckel-Gruber and Joubert syndromes and cystic kidney disease.

Cilia-building protein may cause other problems Newly discovered function of IFT88 may suggest a new cause for cilia-related diseases Jim Fessenden UMass Medical School Communications cilia, Stephen Doxsey, IFT88, mitosis, polycystic kidney disease, ciliopathies      Stephen J. Doxsey Researchers at UMass Medical School have identified a previously unknown role in cell division for a protein already well known for its primary job of building cilia, the slender protrusions that provide motility and sensory

between cilia and PKD in 2000, cilia dysfunction has been identified in numerous other genetic diseases, including blindness, congenital heart disease, skeletal abnormalities and cognitive impairment. Collectively, these diseases are now known as ciliopathies. Pazour came to UMass Medical School from the Worcester Foundation for Biomedical Research, where he was a postdoctoral fellow. He received his PhD in biochemistry from the University of Minnesota and undergraduate degrees in chemistry and biology

Microbiome and apolipoproteins in urinary tract infections and renal damage Tianxiao Huan, PhD A pilot proteomic study to identify new therapeutic targets of age-related macular degeneration Sumeda Nandadasa, PhD Development of a novel model of the ciliopathies Meckel syndrome, nephronophthisis and Joubert Syndrome Jillian Richmond, PhD Evaluating treatment responsiveness and disease activity in multiple sclerosis patients using high-resolution technologies to examine blood and cerebrospinal fluid center

and are essential to the function of many of the body’s organs. Since its first published association to PDK in 2000, cilia dysfunction has been identified in at least a dozen other genetic diseases. Collectively, these diseases are now known as ciliopathies. “Greg’s discovery that defects in kidney cilia cause PKD was really just the tip of the iceberg,” said Dr. Witman. “Scientists had long known that cilia are present in many tissues throughout our bodies; Greg’s studies predicted that defects in