According to a story from the Farmington Daily Times, Dr. C. Frank Bennett, who grew up in Aztec, NM, and his collaborator Dr. Adrian Krainer, were both jointly awarded the 2019 Breakthrough Prize in Life Science. This award includes a $3 million prize which the two men will share between them. They earned the award for their vital work related to the development of Spinraza, the first drug to be approved as a treatment for spinal muscular atrophy.
About Spinal Muscular Atrophy
Spinal muscular atrophy is a type of neuromuscular disorder in which the motor neurons are destroyed, leading to muscle wasting. In many cases, the disease is lethal. This disorder is linked to genetic defects of the SMN1 gene. This gene encodes a protein called SMN, and when not present in certain amounts, neurons are unable to function. There are different kinds of spinal muscular atrophy that are categorized by when symptoms first appear. These symptoms may include loss of reflexes, muscle weakness and poor muscle tone, problems with feeding and swallowing, developmental delays, respiratory muscle weakness, tongue twitching, and a bell shaped torso. There are a variety of management strategies for spinal muscular atrophy, but it is still usually fatal in its most severe forms. To learn more about spinal muscular atrophy, click here.
About Spinraza
Spinraza is an innovative antisense drug which is introduced to the cerebrospinal fluid in order to treat the disorder. Development of a therapy for spinal muscular atrophy that would utilize this technology first began in 2004. Antisense drugs utilize a unique mechanism of action in which small fragments of genetic material are introduced to the patient. This material then binds to RNA and is capable of correcting genetic abnormalities or mutations, such as those that cause spinal muscular atrophy.
Dr. Bennett hopes that antisense technology can eventually be used to treat a number of other diseases as well. The initial work that ultimately led to the creation of Spinraza was supported by the nonprofit organization Cure SMA, a patient advocacy group. The drug is effective at halting the progression of spinal muscular atrophy and can even reverse some of the disease’s impacts.
