This award supports Dr. Sara Custer's postdoctoral training in the lab of Dr. Elliot Androphy at the Indiana University School of Medicine. The main focus of the project is to understand how low levels of the SMN protein leads to dysfunction of motor neurons. To achieve this goal, the group will generate new cell culture and animal models of SMA to gain a better understanding of the basic functions of SMN protein and with novel cellular binding partners in motor axons.
The researchers have identified a protein called alpha-COP that interacts with SMN and will investigate whether this interaction is necessary for normal maturation and function of motor neurons. First, they have generated a cell culture model of SMN depletion, which can be used as a biological assay of SMN functions, such as those important for growth and maintenance of neurons. The cells will be used to determine which aspect of SMN and its various interacting partners are important for neurite outgrowth and normal cellular function. Second, they have used a novel viral-mediated transgenic approach to produce two new mouse lines that will help elucidate the importance of alpha-COP function to SMA pathology.
Earlier this year, FSMA's Advisory Boards met to evaluate new research funding for 37 basic research grant applications and 7 drug discovery projects for SMA. The organization is planning to award $1.4 Million in new research funding over the next few months. This new round of research funding will be allocated into three areas: 1) Basic Research to understand the disease and provide ideas for drug making, 2) Drug Discovery to develop new SMA therapies, and 3) Clinical Research to help test new drugs effectively and to improve care for patients.
This grant to Dr. Custer at Indiana University will help us answer the key basic research question of what function does SMN protein perform in motor neurons.
The basic research that Families of SMA has funded, through 145 research grants to 75 institutions around the world, has delivered major discoveries:
-The cause of SMA in now known. Which means that treatments can be developed that correct the underlying cause of the disease rather than just reduce symptoms.
-A back-up gene for SMA has been identified. Which means a straightforward drug target is already in the body: a built-in switch for new therapies to work on.
Using this knowledge, there are now 3 clinical trials testing new SMA therapies, and an additional 10 programs in earlier stages of the drug development pipeline.