Cure SMA has awarded a $150,000 research grant to Umrao Monani, PhD, at Columbia University, for his project, “SMA modulators as a means to revealing disease mechanisms.”

Dr. Monani and his team have generated SMA model mice and shown that their genetic background can alter disease severity. By studying these mice, they have identified two genes which may be able to suppress SMA severity in this SMA mouse model.

To study these genes, they will create mice with each of the two genes identified. By breeding these transgenic mice with mice that have SMA, they will be able to look for potential mitigating effects of the genes on SMA severity.

They hope to uncover the mechanisms by which these genes lessen disease severity. Furthermore, these genes have the potential to be therapeutic SMA targets that have a truly profound disease-modifying effect. Therefore, this project is both mechanistically as well as therapeutically relevant.

This project is supported by funding from The Spinal Muscular Atrophy Research Team (SMART). SMART is a grassroots organization based in Buffalo, NY that started in 2009 to raise awareness and funds for research aimed at finding a cure for SMA and related diseases. 

Meet Dr. Monani

Who are you?

I am an associate professor of Pathology and Neurology and a member of the Center for Motor Neuron Biology and Disease at Columbia University. I received my B.Sc. from St. Xavier’s College in Bombay, India and a PhD from the Ohio State University.

How did you first become involved with SMA research?

I first became involved with SMA research in 1993 as a graduate student in the laboratory of Dr. Arthur Burghes, a pioneer in the field. In 1997 I attended my first FSMA conference and met Audrey Lewis (Cure SMA founder), realizing how truly fortunate I was to be researching spinal muscular atrophy. I have been researching the disease ever since, first in private industry and currently in academia in my own laboratory at Columbia.

What is your current role in SMA research?

My lab uses mouse models to understand the biology underlying SMA with a view to eventually finding a safe and effective treatment for the human disease. We were amongst the first to demonstrate how important SMN, the SMA protein is to the development and health of the neuromuscular synapses, structures where the motor neurons communicate with muscle cells.

What do you hope to learn from this research project?

The two principal objectives of this research project are first, to create mice transgenic for two factors (genes) we believe may alter SMA severity and second, to test the potential attenuating effects of these genes on the severe disease observed in model mice.

How will this project work?

To generate the transgenic mice, we will employ a recently described gene editing strategy. Once the genes being tested are altered in the transgenic mice, they will be introduced into SMA mice by breeding the two lines of mice.

What is the significance of your study?

Despite progress in treating SMA, not much is known about how low SMN protein causes neuromuscular disease. The significance of the project stems from attempts to address this important question as a means of improving current SMA therapies.

Basic Research Funding

This grant to Dr. Monani is part of $1,325,000 in new basic research funding that we’re currently announcing.

Basic research is the first step in our comprehensive research model. We fund basic research to investigate the biology and cause of SMA, in order to identify the most effective strategies for drug discovery. We also use this funding to develop tools that facilitate SMA research.

Past Announcements

$150,000 to Charlotte Sumner, MD

$75,000 to Robert Kalb, MD

$150,000 to Allison Ebert, PhD