Originally published on February 20, 2014.

Cure SMA is proud to announce our new basic research funding for 2014. We are leading the way to a world without SMA by advancing a comprehensive research program, of which basic research is a key component.

Basic research helps us understand what causes SMA, by revealing new and better ways of making drugs. There are currently five SMA drugs being tested in clinical trials, advances that would not be possible without the important discoveries made in basic research.

Many important questions in SMA basic research remain unanswered today. The current round of new research awards from Cure SMA will help answer some of these, including:

What function does SMN protein perform in motor neurons?
Dr. Han from the University of Colorado will investigate what controls the correct distribution of SMN protein into motor neurons, providing a greater understanding of SMN function.

What tissues are affected by reduced SMN protein?
The grants to Dr. Ko at the University of Southern California, to Dr. Ebert at the Medical College of Wisconsin, and to Dr. Burnett will help determine the exact cells that influence SMA disease pathology.

Are there SMA drug targets, in addition to SMN itself?
The funding to Dr. Murray of the University of Edinburgh will explore the molecular pathways controlling degeneration in SMA motor neurons to identify possible new drug targets in these pathways.  Dr. Kothary from the Ottawa Hospital Research Institute will investigate non-SMN mediated mechanisms that provide therapeutic benefit in mouse models of SMA.

What are the best measures in animal models of SMA to predict human drug responsiveness?
Drs. Lutz and Bogdanik from Jackson Laboratory will lead a multi-center team investigating electrophysiological endpoints, which are currently used in patients, in drug testing in mice.

Cure SMA Funding Strategy:

Cure SMA invests in four areas of research: Basic Research, Drug Discovery, Clinical Research, and Care Research. Cure SMA has invested over $55 Million in SMA research since our inception in 1984, with $35 Million in funding in the past decade alone.

In Basic Research, Cure SMA has awarded 79 basic research grants to 53 different principal investigators at 38 different institutions for almost $10 Million in funding in the past decade. Cure SMA basic research funding has contributed to many critical SMA breakthroughs, including:

•    Mapping and cloning of the SMA gene, SMN1
•    Identification of roles of SMN protein in the cell
•    Discovery of the back-up SMA gene, called SMN2
•    Development of animal models for SMA
•    Identification of the nucleic acid sequence used in the ISIS ASO drug