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Families of Spinal Muscular Atrophy Awards New Research Funding of $140,000 to Dr. Christine DiDonato at Northwestern University.

December 23, 2012.

Description of FSMA Funded Project:  The when and where requirements of SMN in less severe SMA.
Objective:  The objective of this work is to determine if re-introducing SMN after disease onset and once functional loss has already occurred in less severe forms of SMA can be of benefit.  Additionally we will also determine whether increasing SMN only in the spinal cord of adult mice will be useful, using the same less severe mouse model.
Research Strategy
: The researchers are using a less severe SMA mouse that carries the human SMN2 gene and is also inducible.  This means they can increase Smn levels in the animal in different tissues and at different times. In the first set of experiments, they will increase SMN everywhere in the body but at different times. This will allow the researchers to bypass potential problems that might exist in one organ system or another. In the second set of experiments they will only increase SMN in the spinal cord. This experiment will determine whether high levels of SMN are only required within the CNS.

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.
Click here to see more details on the process.

Our research progress provides us all with hope that one day we will live in a world without SMA. Your gift will make that hope a reality.  Click here or the image below to donate and support Families of SMA research and services.

Researcher Profile:

CDWho are you?
I am a molecular biologist with training in human and mouse genetics with specific expertise in the development and use of mouse models of human disease. I obtained my PhD in molecular genetics from The Ohio State University.  I then pursued my training as a Postdoctoral Fellow at Hospital St. Justine Research Center in Montreal, Quebec, Canada and then at the Ottawa Health Research Institute in Ottawa, Ontario, Canada.  I  started my independent research group in 2003 at Ann & Robert H. Lurie Children’s Hospital Research Center (formerly Children’s Memorial Hospital Research Center).  I am an Assistant Professor in the Department of Pediatrics at Northwestern University Feinberg School of Medicine.   Click here for the lab webpage.
How did you first become involved with SMA research?
I started working on SMA while a PhD student at Ohio State University under the mentorship of Arthur Burghes.  At that time we were working to identify the gene responsible for SMA. It was during that time that I was “bitten” with the SMA research bug from our interactions with families.  Since then my scientific career has focused on various aspects of SMA research, -- from working to identify markers useful for prenatal diagnosis and gene identification while a graduate student before the gene was cloned, to developing mouse model techniques while a post-doctoral trainee and then with my own laboratory generating and characterizing SMA mice of varying severities and testing potential therapeutic treatment strategies.
What is yo
ur current role in SMA research?
My lab primarily focuses on development of longer-lived SMA mouse models and we use them to gain a better understanding of the tissues and cell types that are most affected by low levels of SMN and how this contributes to disease.  We are also using these mice to ask specific questions about re-introducing or increasing SMN levels after symptom onset has occurred in milder mice.  Finally we are using these milder mice to identify and test other therapies that are SMN-independent to improve the SMA phenotype.

Click here for our funding facts page for details on FSMA research awards.

This grant to Dr. DiDonato at Northwestern University will help us understand when and where SMN protein is needed in less severe SMA.  This will help answer two key basic research questions of what tissues are affected by reduced SMN protein and when can SMA be provided back and still give benefit?

The basic research that Families of SMA has funded, through 145 research grants to 75 institutions around the world, has delivered major discoveries:
-We know the cause of SMA. Which means we can develop treatments that correct the underlying cause of the disease rather than just reduce symptoms.
-We identified a back-up gene for SMA. Which means we have a straightforward drug target already in the body: a built-in switch for new therapies to work on.
Using this knowledge, we now have 3 clinical trials testing new SMA therapies, and an additional 10 programs in earlier stages of the drug development pipeline.


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