Medical Discovery NewsBridging the World of Medical Discovery and You

Recent Episodes

New Gene Therapy Lights Up Vision

MP3 WAV

  • We need light to see and now a new gene therapy is restoring sight by sort of lighting up certain people's vision.

    These people are suffering from RP, or retinal pigmentosa, a group of rare genetic disorders where certain genes that encode instructions for proteins are mutated. When these proteins malfunction, the two types of cells in the retina that detect light, rods and cones, are slowly lost.

    In the new treatment, the gene being targeted is RPE65. Its protein is involved in a process called the visual cycle which is triggered by light entering the eye.

    The cycle begins when a molecule similar to vitamin A is converted to another molecule called all-trans retinal. This conversion tells the eye to send electrical signals that transmit images to the brain.

    But for us to continue to see, the RPE65 protein has to return the all-trans retinal back into the vitamin-A like molecule so it is ready to go again. This cycle does not happen when the protein malfunctions, so the new therapy targets the protein by using an engineered virus called AAV.

    It's engineered to carry the normal form of the RPE65 gene. The engineered viruses are surgically introduced into the eye where they infect cells and begin making normal RPE65 proteins to correct the defect.

    In a clinical trial involving 21 people, all showed improved sensitivity to light. Some nearly blind patients had restored sight even three years after the therapy. The treatment may be approved in 2016, but at one-hundred grand, most people can't afford it.

    But we're excited that the treatment could benefit other similar genetic vision disorders, and that this is a gene therapy that works.

Two individuals wearing headphones stand in a recording booth, speaking into microphones with a music stand holding printed pages between them.

 Medicine...

Medicine is constantly advancing – that is a great thing about life in the 21st century. But it doesn’t just happen. Dedicated biomedical scientists are making discoveries that translate into those new medical advances.

Biomedical science is broad, encompassing everything from social science to microbiology, biochemistry, epidemiology, to structural biology and bioinformatics to name just a few areas. And, it can involve basic fundamental biology, the use of AI and chemistry to clinical studies that evaluate new medicines in patients.

No matter the research focus, the goal is always the same, to advance human health. It may take a few months, a few years or for fundamental science, a few decades. Few people make the connection that biomedical science is medicine and that biomedical scientists are working today on the medicine of tomorrow. Our weekly 500-word newspaper columns and 2-minute radio shows and podcasts 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.

Podcasts

Alternatively, you can copy and paste the following web address (URL) into iTunes as a new subscription:
https://www.medicaldiscoverynews.com/shows/audio/mdnews.rss

You can also search and subscribe to "Medical Discovery News" in the podcast section of iTunes.

The www.medicaldiscoverynews.com web site and Medical Discovery News radio program (Program) are made possible by The University of Texas Medical Branch at Galveston (UTMB)as a community service and are intended to advance UTMB's mission of providing scholarly teaching, innovative scientific investigation, and state-of-the-art patient care in a learning environment to better the health of society and its commitment to the discovery of new innovative biomedical and health services knowledge leading to increasingly effective and accessible health care for the citizens of Texas.

All information provided on the web site and in the Program is for informational purposes only and is not intended for use as diagnosis or treatment of a health problem or as a substitute for consulting a licensed medical professional. Any information obtained by participating as a web site visitor or program listener is not intended to and should not be considered to constitute medical advice.

Thoughts and opinions expressed on the Program or on the website are those of the authors or guests and do not necessarily reflect the opinions of UTMB. The provision of links to other websites is not to be construed as written or implied sponsorship or endorsement of such websites by UTMB.

Please contact Dr. David Niesel or Dr. Norbert Herzog via email with any concerns, suggestions or comments.

All rights are reserved to information provided on the website or other information sources. No part of these programs can be reproduced stored in a retrieval system or transcribed in any form or by any means for personal or financial gained without the express written permission of Drs. Niesel and Dr. Herzog.