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
'Living bandages': NUST MISIS scientists develop biocompatible anti-burn nanofibers
16.02.2018 | National University of Science and Technology MISIS
New process allows tailor-made malaria research
16.02.2018 | Eberhard Karls Universität Tübingen
Breakthrough provides a new concept of the design of molecular motors, sensors and electricity generators at nanoscale
Researchers from the Institute of Organic Chemistry and Biochemistry of the CAS (IOCB Prague), Institute of Physics of the CAS (IP CAS) and Palacký University...
For photographers and scientists, lenses are lifesavers. They reflect and refract light, making possible the imaging systems that drive discovery through the microscope and preserve history through cameras.
But today's glass-based lenses are bulky and resist miniaturization. Next-generation technologies, such as ultrathin cameras or tiny microscopes, require...
Scientists from the University of Zurich have succeeded for the first time in tracking individual stem cells and their neuronal progeny over months within the intact adult brain. This study sheds light on how new neurons are produced throughout life.
The generation of new nerve cells was once thought to taper off at the end of embryonic development. However, recent research has shown that the adult brain...
Theoretical physicists propose to use negative interference to control heat flow in quantum devices. Study published in Physical Review Letters
Quantum computer parts are sensitive and need to be cooled to very low temperatures. Their tiny size makes them particularly susceptible to a temperature...
Let’s say the armrest is broken in your vintage car. As things stand, you would need a lot of luck and persistence to find the right spare part. But in the world of Industrie 4.0 and production with batch sizes of one, you can simply scan the armrest and print it out. This is made possible by the first ever 3D scanner capable of working autonomously and in real time. The autonomous scanning system will be on display at the Hannover Messe Preview on February 6 and at the Hannover Messe proper from April 23 to 27, 2018 (Hall 6, Booth A30).
Part of the charm of vintage cars is that they stopped making them long ago, so it is special when you do see one out on the roads. If something breaks or...
15.02.2018 | Event News
13.02.2018 | Event News
12.02.2018 | Event News
16.02.2018 | Information Technology
16.02.2018 | Health and Medicine
16.02.2018 | Physics and Astronomy