Drugs Discovery Assets:

In Vitro Tools

SMA Foundation

In vitro assays are performed on tissues or cells maintained outside of the body, usually in the form of a cell culture plate or test tube. In vitro assays are important because they provide the opportunity to test compounds and investigate SMA biology in human and animal model cells. These tools also provide convenient and rapid readouts for high-throughput screening of compounds. The SMA Foundation has invested close to $13M in establishing a panel of in vitro platforms and tools in collaboration with researchers for testing SMA therapeutics and elucidating SMA biology. The majority of these assays were developed at the Columbia University Motor Neuron Center (MNC) and the Harvard Stem Cell Institute (HSCI). The complete list of SMA Foundation in vitro tools is available below. For more information, please contact us at researchtools@smafoundation.org.

Research Tool Readouts Institution SMN/Downstream
SMA ELISA SMN Protein Enzo Life Sciences/SMAF SMN
Inducible knockdown of mSMN in mouse fibroblasts Proliferation MNC (Livio Pellizzoni) Downstream
Inducible knockdown of mSMN+SMN2 in mouse fibroblasts ProliferationSMN protein level/function MNC (Livio Pellizzoni) Both
ES-derived motor neurons from SMA mice Survival of motor neurons SMN protein level/function MNC (Hynek Wichterle), HSCI (Lee Rubin) Both
SMA patient PGD-derived human motor neurons Survival of motor neuronsSMN protein level/function HSCI (Kevin Eggan) Both
Inducible knockdown of mSMN in ES-derived mouse motor neurons Survival of motor neurons MNC (Livio Pellizzoni) Downstream
Knockdown of mSMN in ES-derived mouse motor neurons Survival of motor neurons HSCI (Lee Rubin) Downstream
Myoblasts from SMA mice SMN protein level/function NYU (Steve Burden) SMN
Co-culture myoblasts with ES-derived motor neurons from SMA mice Synapse Formation HSCI (Lee Rubin) Downstream
Mouse motor neurons and SMA patient fibroblasts SMN Protein HSCI (Lee Rubin) SMN

Table 1. In vitro assays available for SMA drug development. Assays are listed with descriptions of their readouts, their developers, and institutions. The table also details whether individual assays provide information directly on SMN levels or functions, on other metrics that are downstream of SMN activity, or on both direct and downstream SMN readouts.