Medical Discovery News
Science permeates everyday life. Yet the understanding of advances in biomedical science is limited at best. Few people make the connection that biomedical science is medicine and that biomedical scientists are working today for the medicine of tomorrow. Our weekly five-hundred-word newspaper column (http://www.illuminascicom.com/) and two-minute radio show provide insights into a broad range of biomedical science topics. Medical Discovery News is dedicated to explaining discoveries in biomedical research and their promise for the future of medicine. Each release is designed to stimulate listeners to think, question and appreciate how science affects their health as well as that of the rest of the world. We also delve into significant biomedical discoveries and portray how science (or the lack of it) has impacted health throughout history.
Medical Discovery News
The FUS involved in ALS
998 The FUS involved in ALS
Welcome to Medical Discovery News. I’m Dr. Norbert Herzog.
And I’m Dr. David Niesel
A chance meeting may be what’s keeping a man alive after his siblings and mother all died from ALS. Amyotrophic lateral sclerosis is a disease that attacks nerves in the brain and spinal cord leading to loss of muscle control.
Jeff’s mother and three aunts had all died from ALS by the time he met scientists presenting on ALS research in Barbados.
Two years later, his sister Erin began showing clinical symptoms, and Jeff called the scientists who connected him to a doctor studying genetic forms of ALS.
Most causes of ALS are unknown except for the rare ten percent of inherited forms, but in all patients, muscle weakness spreads until the person can’t talk, walk, eat or even breathe. And there is no cure.
Jeff and his two sisters Erin and Leigh learned they all carried an FUS gene mutation that causes nerve damage and leads to an aggressive form of ALS.
Luckily, Jeff’s doctor had been working on an experimental treatment called ulefnersen to silence the FUS gene. It reduces the levels of FUS protein in the brain and spine and delays nerve degeneration.
When Jeff, Erin and Leigh started in the clinical trial of ulefnersen, the sisters were already showing signs of nerve damage, but Jeff did not. Erin’s ALS progressed even on the drug and died after three years. After four years on it, Leigh died of an unrelated head injury.
After three years on the drug, Jeff was still symptom free, maybe because he started treatment before showing any symptoms. Let’s hope so and give patients like Jeff a chance at a normal life
We are Drs. David Niesel and Norbert Herzog, at UTMB and Quinnipiac University, where biomedical discoveries shape the future of medicine. For much more and our disclaimer go to medicaldiscoverynews.comor subscribe to our podcast.
