Clinical Trials Bring Hope to Kids with Spinal Muscular Atrophy

Faith Fortenberry

More than a decade ago, the NIH’s National Institute of Neurological Disorders and Stroke (NINDS) launched a special project to accelerate the translation of basic scientific discoveries into new treatments for a rare and often fatal disease. Five-year-old Faith Fortenberry whom you see above is among the kids who may benefit from the success of this pioneering endeavor.

Faith was born with spinal muscular atrophy (SMA), a hereditary neurodegenerative disease that can affect movement, breathing, and swallowing. When the NIH project began, there was no treatment for SMA, but researchers had discovered that mutations in the SMN1 gene were responsible for the disorder. Such mutations cause a deficiency of SMN protein, leading to degeneration of neurons in the brain and spinal cord, and progressive muscle weakness throughout the body. The NIH effort supported research to discover ways of raising SMN levels in cells grown in lab dishes, and then worked closely with patient advocates and pharmaceutical companies to move the most promising leads into drug development and clinical testing.

Given the desperate need for SMA treatments and all of the scientific energy that’s been devoted to pursuing them, I’ve been following this field closely. So, I was very encouraged to learn recently about the promising results of human tests of not just one—but two—new treatments for SMA [1, 2]. Continue reading

Cool Videos: The Ghost in the Lab Dish?

As Halloween approaches, lots of kids and kids-at-heart will be watching out for ghosts and goblins. So, to help meet the seasonal demand for scary visuals, I’d like to share this award-winning image that’s been packaged into a brief video.

The “ghoul” you see above is no fleeting apparition: it’s a mouse cell labelled to reveal its microtubules, which are dynamic filaments involved in cellular structure, transport, and motility. Graduate student Victor DeBarros captured this image a couple of years ago in the NIH-supported lab of Randall Duncan at the University of Delaware, Newark, as part of research on the rare skeletal disorder metatropic dysplasia (MD).

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Repurposing an “Old” Drug for Alzheimer’s Disease

Senator Mikulski during her tour of NCATS

Caption: Here I am with Senator Barbara Mikulski (center) and NCATS Director Chris Austin (right). Credit: NIH

Alzheimer’s disease research is among the many areas of biomedical science that Senator Barbara Mikulski has championed during her nearly 40 years on Capitol Hill. And it’s easy to understand why the Senator is concerned: an estimated 5 million Americans age 65 and older have Alzheimer’s disease, and those numbers are expected to rise exponentially as the U.S. population continues to age.

So, I was thrilled to have some encouraging progress to report last week when Senator Mikulski (D-MD) paid a visit to NIH’s National Center for Advancing Translational Sciences (NCATS) in Gaithersburg, MD. After a whirlwind tour of the cutting-edge robotics facility for high throughput screening of small molecules, she joined me and NCATS Director Dr. Chris Austin in announcing that, thanks to an innovative public-private partnership, an experimental drug originally developed to fight cancer is now showing promise against Alzheimer’s disease.

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Cool Videos: Accelerating Discoveries Toward Better Health

Clinical and Translational Science video screenshot

One of the biggest challenges in biomedical research today is breaking down the barriers that slow the translation of new scientific discoveries into treatments and cures. Today’s video drives home that point through a parody of the Emmy Award-winning TV series, “Breaking Bad.”

Shot in Albuquerque by the University of New Mexico’s Clinical and Translational Science Center, this film focuses on a dramatic but obviously fictional example of what it takes to move fundamental knowledge about biology into a therapy that can make a difference in a patient’s life. Here’s the plot in a nutshell: “Walter White explains to his class that clinical and translational science is about accelerating basic science to clinical science and then into practice, bringing new discoveries and technology to the people. This parody shows how Walter and Jesse Pinkman bring basic science to clinical practice, and enable a multiple sclerosis (MS) patient to walk again.”

Links:

Clinical & Translational Science Center, University of New Mexico Health Sciences Center

Clinical and Translational Science Awards (National Center for Advancing Translational Sciences/NIH)

NIH Common Fund Video Competition

NIH support: Common Fund; National Center for Advancing Translational Sciences