General Research

A report on drug development in neuromuscular diseases as of January 2009

posted on January 1, 2009 - 2:37pm
QUEST Vol. 16, No. 1
In the era of molecular biology, the drug development process has moved from a “let’s try it and see what happens” approach to a scientifically based process of discovery and application. For many of the diseases in MDA’s program, drug discovery begins with gene discovery — identifying a gene that, when flawed, causes a disease.
posted on May 1, 2005 - 9:46am
Jason Adamo’s life isn’t markedly different from that of any other teenager. The 17-year-old high school junior has a part-time job as a cook at a restaurant near his home in Port Charlotte, Fla., and enjoys flying radio-controlled model helicopters in his spare time. But had it not been for the alertness and persistence of his mother, Katherine, an intensive care nurse, things could have taken a...

John Crowley talks about what's needed in the "golden age" of drug development

posted on December 31, 2009 - 1:19am
QUEST Vol. 17, No. 1
John Crowley is the father of two children with Pompe disease (acid maltase deficiency). His quest to develop a drug to save their lives is chronicled in the movie "Extraordinary Measures," to be released by CBS Films in January 2010. Crowley was interviewed for the Quest article "Heroes, Hope & Hollywood."  Below are more of his thoughts on the "golden age" of drug development and how...
posted on January 1, 2011 - 4:42pm
QUEST Vol. 18, No. 1
A biomarker is any biological indicator that doctors or researchers can objectively measure and evaluate to determine the state of an individual’s health; confirm disease onset and progression; or gauge whether an experimental treatment is working or not.

A new research mouse may speed development of treatments for McArdle disease, and a conference this August will focus on several glycogen storage diseases

posted on July 5, 2012 - 6:00am
New research mouse mimics McArdle disease Scientists in Spain have developed mice with a disorder that closely resembles the human metabolic muscle disorder known as McArdle disease (also called phosphorylase deficiency, myophosphorylase deficiency and glycogenosis type 5). The mice are expected to speed testing of treatments for this disorder.

A gene therapy method tested in human cells ‘significantly’ increased production of frataxin, the protein deficient in Friedreich's ataxia

posted on August 8, 2012 - 6:00am
Human cells treated with engineered transcription activation-like effector (TALE) proteins produced two to three times more frataxin protein than did control cells, a team of researchers has reported.

Progress is ongoing in coaxing stem cells along specific paths, altering their genes and understanding the immune response to stem cell transplantation

posted on June 13, 2011 - 2:23pm
Stem cells are a hot topic these days in medicine, science and law, although the term has multiple meanings and it's easy to get confused. In short, stem cells are cells at an early stage of development from which specialized cells, such as muscle or nerve cells, can develop (in other words, from which these specialized cells "stem"). Different kinds of stem cells are referred to as:

Studying the mechanisms controlling gene activity

posted on December 31, 2009 - 1:15am
QUEST Vol. 17, No. 1
Slip the word “genetics” into a casual conversation and you likely won’t get too many questioning looks. Most people basically understand that “genetics” refers to DNA and genes, the blueprint of life, the code that determines whether someone has blue eyes or green. Many are familiar, too, with the idea that “genetics” can cause a variety of health conditions: diabetes, breast cancer, muscular...

An update on stem cell research related to neuromuscular disease as of July 2009

posted on July 1, 2009 - 5:17pm
QUEST Vol. 16, No. 3
Stem cells — immature cells with the potential to develop into different tissue types — have been heralded as a major advance for developing treatments for a variety of diseases. That’s true for diseases of the nerves and muscles, where such cells could potentially be transplanted into the body and either support or replace a patient’s ailing cells.

Two federal agencies, the NIH and FDA, are cooperating in an attempt to reduce the time it takes to approve new drugs.

posted on February 26, 2010 - 4:45pm
The National Institutes of Health (NIH) and the U.S. Food and Drug Administration (FDA) have announced plans to establish a Joint NIH-FDA Leadership Council, with the goal of shortening the time it takes to move promising therapies through the regulatory process and into the hands of waiting patients.