HEALTH 15 May 2024ByDAVID NIELD Brain tissue scan, with the bright red ring showing a protein clump that only shows up in patients with SCA4. (Mandi Gandelman) You might not have heard of spinocerebellar ataxia type 4 (SCA4), as it’s an incredibly rare condition – but after a quarter of a century of looking, the...
by Olivia Dimmer, Northwestern University Multiplex immunofluorescence staining and imaging using the COMET system platform on a human meningioma patient sample, showing SSTR2+ tumor cells (in red), expressing the hedgehog pathway activation marker sonic hedgehog (SHH, in cyan blue). Credit: Hinda NajemScientists have uncovered a genetic explanation for one subset of common brain tumors, according to...
by The Mount Sinai Hospital Daniel Greene, PhD, and colleagues used a computational approach to identify previously unknown genetic causes of three rare diseases: primary lymphedema, thoracic aortic aneurysm disease, and congenital deafness. In this microscopy image of cells, a mutated form of a protein called ERG, which is present in some lymphedema patients, is...
The discovery will improve diagnosis and open new treatment avenues for this progressive condition. Late-onset cerebellar ataxias (LOCA) are a heterogenous group of neurodegenerative diseases that manifest in adulthood with unsteadiness. One to three in 100,000 people worldwide will develop a late-onset ataxia. Until recently, most patients with late-onset ataxia had remained without a genetic...
by Children’s Hospital Boston Credit: Pixabay/CC0 Public Domain A 6-year-old boy began hearing voices coming from the walls and the school intercom telling him to hurt himself and others. He saw ghosts, aliens in trees, and colored footprints. Joseph Gonzalez-Heydrich, MD, a psychiatrist at Boston Children’s Hospital, put him on antipsychotic medications and the frightening...
Variants of at least 20 different genes have been closely linked to the development of Parkinson’s disease. However, scientists are still investigating how exactly they cause the severe and incurable motor disorder afflicts about 1 million people in the U.S. alone. Image credit: Claudia Love on Unsplash, free license New research by Yale researchers offers essential...
This image shows a butterfly, the symbol for lupus (due to the typical “butterfly rash”), landing on the Y264H site of a flower grown from the protein structure of TLR7.- Jeroen Claus An international team of researchers has identified DNA mutations in a gene that senses viral RNA as a cause of the autoimmune disease lupus...
Jean-Jacques Bienaimé (BioMarin via Youtube) November 19, 2021 11:10 AM EST FDA+ FDA opens up an ethical can of worms with accelerated approval for first drug for underlying genetic cause of dwarfism. The FDA on Friday signed off on an accelerated approval for Biomarin’s Voxzogo (vosoritide) injection, the first treatment to target the underlying genetics...
by University of North Carolina Health Care Right, βII-spectrin (magenta) forms aggregates throughout neurites of a mouse cortical neuron expressing one of the human SPTBN1 variants. Credit: Lorenzo Lab, UNC School of Medicine Scientists at the University of North Carolina at Chapel Hill School of Medicine and colleagues have demonstrated that variants in the SPTBN1 gene...
by University of Maryland School of Medicine Human cells with AP1G1 protein (green) found in vesicles overlapping (yellow) a protein found on vesicles (red). The nucleus (blue) and cell skeleton (white) are also labeled in the cells. Credit: Dr. Riazuddin University of Maryland School of Medicine (UMSOM) researchers identified a new gene that may be linked...
