Raul Hernandez was no stranger to sports activity, and was active in Little League by the time he was 10 years old. But one day while running a short race at school, Raul experienced an intense burning sensation in his feet that turned his world upside down. From that day forward, he would experience severe pain in his feet any time he engaged in physical activity or, strangely, when the weather was hot or it rained. The situation worsened when the pain spread to his hands. His doctors, however, were unable to find anything wrong with him, telling his parents that the pain was all in his mind.
Seventeen years later, Raul was officially diagnosed with Fabry disease – a rare genetic disorder that causes severe pain in the hands and feet, eventually destroying vital organs in the body. Yet even after Raul was diagnosed, no therapy was available to treat the disease. It was not until two-and-a-half years ago that Raul learned that a clinical trial at Cedars-Sinai Medical Center was testing a new drug designed to replace the enzyme that he was missing. The next thing he knew, he was on a plane to Los Angeles from his hometown in Salinas, California to take part in the clinical trial. Since then, Raul commutes every two weeks to receive treatment. He says that he is once again exercising without pain and leads as normal life as anyone else.
An update of the clinical trial at Cedars-Sinai Medical Center and at 19 other centers throughout the country and Europe, was presented this month at the annual meeting of the American Society of Human Genetics in Baltimore, Maryland by William Wilcox, M.D., Ph.D., a medical geneticist at Cedars-Sinai. The findings show that patients receiving enzyme replacement therapy for a near-two-year period via infusion with a drug called r-haGAL (FabrazymeTM) continue to benefit from reduced pain and prevention of further organ damage.
Kelli Stauning | Cedars-Sinai Medical Center
Monitoring the heart's mitochondria to predict cardiac arrest?
21.09.2017 | Boston Children's Hospital
Highly precise wiring in the Cerebral Cortex
21.09.2017 | Max-Planck-Institut für Hirnforschung
Our brains house extremely complex neuronal circuits, whose detailed structures are still largely unknown. This is especially true for the so-called cerebral cortex of mammals, where among other things vision, thoughts or spatial orientation are being computed. Here the rules by which nerve cells are connected to each other are only partly understood. A team of scientists around Moritz Helmstaedter at the Frankfiurt Max Planck Institute for Brain Research and Helene Schmidt (Humboldt University in Berlin) have now discovered a surprisingly precise nerve cell connectivity pattern in the part of the cerebral cortex that is responsible for orienting the individual animal or human in space.
The researchers report online in Nature (Schmidt et al., 2017. Axonal synapse sorting in medial entorhinal cortex, DOI: 10.1038/nature24005) that synapses in...
Whispering gallery mode (WGM) resonators are used to make tiny micro-lasers, sensors, switches, routers and other devices. These tiny structures rely on a...
Using ultrafast flashes of laser and x-ray radiation, scientists at the Max Planck Institute of Quantum Optics (Garching, Germany) took snapshots of the briefest electron motion inside a solid material to date. The electron motion lasted only 750 billionths of the billionth of a second before it fainted, setting a new record of human capability to capture ultrafast processes inside solids!
When x-rays shine onto solid materials or large molecules, an electron is pushed away from its original place near the nucleus of the atom, leaving a hole...
For the first time, physicists have successfully imaged spiral magnetic ordering in a multiferroic material. These materials are considered highly promising candidates for future data storage media. The researchers were able to prove their findings using unique quantum sensors that were developed at Basel University and that can analyze electromagnetic fields on the nanometer scale. The results – obtained by scientists from the University of Basel’s Department of Physics, the Swiss Nanoscience Institute, the University of Montpellier and several laboratories from University Paris-Saclay – were recently published in the journal Nature.
Multiferroics are materials that simultaneously react to electric and magnetic fields. These two properties are rarely found together, and their combined...
MBM ScienceBridge GmbH successfully negotiated a license agreement between University Medical Center Göttingen (UMG) and the biotech company Tissue Systems Holding GmbH about commercial use of a multi-well tissue plate for automated and reliable tissue engineering & drug testing.
MBM ScienceBridge GmbH successfully negotiated a license agreement between University Medical Center Göttingen (UMG) and the biotech company Tissue Systems...
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21.09.2017 | Physics and Astronomy
21.09.2017 | Life Sciences
21.09.2017 | Health and Medicine