Human Tissue Donation Program Advances Understanding of SMA

Families’ generous donations of human tissues at the time of death are critical to an ongoing program directed to understanding how SMA damages the nervous system. One persistent mystery about SMA, of potential great importance, is why the low level of the SMN protein within all cells particularly affects motor neurons. With the tissues available we have learned that motor neurons appear to be stressed both at the neuron cell body in the spinal cord as well as at the connection between axon and muscle fiber. There are also differences in the level of pathology that different motor neurons manifest – from vulnerable to resistant – a clue that has led researchers to look at what determines the differences in sensitivity.

Tissues collected in this project (supplemented by materials from Dr Kathryn Swoboda at Massachusetts General Hospital) are made available to serious academic and industry researchers worldwide. Drs Sumner, Swoboda, and others are using this resource to evaluate the pathology of SMA in ways that previously have not been possible. This “library” of tissues is a resource with tremendous value — to ask basic questions about cause and mechanism of pathology, questions about new treatments for SMA and the window of opportunity for therapy, and to address critical practical concerns about how to adjust therapy, and measure the effect of therapy, as they are developed. With the experience gained so far, we’ve become more sophisticated in the questions to be asked. This is one reason why additional donations from individuals at all ages, with all three types of SMA, are especially valuable.

Partially financed by the SMA Foundation, supported by Cure SMA and its members, and directed by Dr. Sumner and Dr. Crawford from Johns Hopkins University School of Medicine, this is a collaborative project that truly involves everyone with a stake in SMA – families and researchers alike.

This is a truly collaborative effort that can benefit all of us – those with SMA and the families and friends who live with it, as well as those who are devoting our careers to finding a treatment for this disease. We hope that our community recognizes the selfess contributition of those who have donated in the most difficult of times. Questions about the program can be directed to Dr. Tom Crawford, at his office at Johns Hopkins University, 410.955.4259 #1.

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