RARE Daily

Rare Disease Researchers Receive 2020 Innovators in Science Awards

July 8, 2020

The New York Academy of Sciences named Adrian Krainer, a professor at Cold Spring Harbor Laboratory, winner of the 2020 Innovators in Science Award for his research on the mechanisms and control of RNA splicing.

The 2020 Innovators in Science Award celebrated outstanding research in rare diseases, granting two prizes of $200,000 each to scientist who have significantly advanced the field of rare disease research. The New York Academy of Sciences gives the awards in partnership with Takeda Pharmaceutical. Prize winners are determined by a panel of judges, independently selected by the New York Academy of Sciences.

The organization also named Jeong Ho Lee, associate professor of the Korea Advanced Institute of Science and Technology, as the recipient of the 2020 Early-Career Scientist Award for his research investigating genetic mutations in stem cells in the brain that result in rare developmental brain disorders.

RNA splicing is a step in the normal process by which genetic information in DNA is converted into proteins. Krainer studies splicing defects in patients with spinal muscular atrophy, an inherited pediatric neuromuscular disorder caused by loss of motor neurons, resulting in progressive muscle atrophy and eventually, death. His work culminated notably in the development of the first drug to be approved by global regulatory bodies that can delay and even prevent the onset of an inherited neurodegenerative disorder.

“Collectively, rare diseases affect millions of families worldwide, who urgently need and deserve our help. I’m extremely honored to receive this recognition for research that my lab and our collaborators carried out to develop the first approved medicine for SMA,” said Krainer. “As basic researchers, we are driven by curiosity and get to experience the thrill of discovery; but when the fruits of our research can actually improve patients’ lives, everything else pales in comparison.”

Lee was the first scientist to identify the causes of intractable epilepsies and has identified the genes responsible for several developmental brain disorders, including focal cortical dysplasias, Joubert syndrome—a disorder characterized by an underdevelopment of the brainstem—and hemimegalencephaly, which is the abnormal enlargement of one side of the brain.

Lee also is the director of the National Creative Research Initiative Center for Brain Somatic Mutations, and co-founder and chief technology officer of SoVarGen, a biopharmaceutical company aiming to discover novel therapeutics and diagnosis for intractable central nervous system diseases caused by low-level somatic mutation.

“This award validates research into brain somatic mutations as an important area of exploration to help patients suffering from devastating and untreatable neurological disorders,” Lee said.

The 2020 winners will be honored at the virtual Innovators in Science Award Ceremony and Symposium in October 2020. This event provides an opportunity to engage with leading researchers, clinicians and prominent industry stakeholders from around the world about the latest breakthroughs in the scientific understanding and clinical treatment of genetic, nervous system, metabolic, autoimmune, and cardiovascular rare diseases.

The Innovators in Science Award grants two prizes of $200,000 each year: one to an early-career scientist and the other to a well-established senior scientist who have distinguished themselves for the creative thinking and impact of their research. Prize winners are determined by a panel of judges, independently selected by the New York Academy of Sciences, with expertise in these disciplines.

Photo: Adrian Krainer, a professor at Cold Spring Harbor Laboratory

Author: Rare Daily Staff

Stay Connected

Sign up for updates straight to your inbox.