Tel Aviv University Awards Honorary Doctorate to Researcher Who Played Critical Role in Developing Spinal Muscular Atrophy Drug

According to a story from The Jerusalem Post, Adrian Krainer is a prominent molecular geneticist and biochemist. His research was also pivotal in developing the first-ever disease modifying treatment for spinal muscular atrophy: Spinraza. Before this drug was approved in 2016, spinal muscular atrophy was practically a death sentence. Krainer is Jewish and is of Uruguayan-American background. For the last 30 years, he has worked with Israeli scientists in a variety of capacities.

About Spinal Muscular Atrophy (SMA)

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. The most effective treatment currently available for the disease is called Spinraza. To learn more about spinal muscular atrophy, click here.

Treating Spinal Muscular Atrophy

The functional mechanism of Spinraza involves an approach pioneered by Krainer’s lab. The drug functions by introducing fragments of RNA that have been chemically modified, known as antisense oligonucleotides. The genes that cause spinal muscular atrophy are spliced abnormally, and antisense oligonucleotides can correct this process. For his work in developing the drug, Krainer will receive an honorary doctorate from Tel Aviv University.

Krainer says that nearly 7,000 patients with spinal muscular atrophy have benefited from the use of the therapy since its introduction. In Israel, the drug is covered for all patients. Prompt treatment with Spinraza can allow patients that would have ultimately died from spinal muscular atrophy to recover their strength and develop relatively normally. There is no doubt that the drug was a major breakthrough.

Krainer’s current research is focused on catering this approach to other genetic disorders and even cancer. He says that rare disease research is difficult because of lack of funding and support. The small number of patients also means that clinical trial recruitment can be difficult.

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