“The clear genetic cause, the existence of a rescuing gene, and the centrality of the motor neuron all combine to make SMA a valuable test case.  Work done by SMA researchers targeting the rescuing gene (delivering gene therapy to the motor neuron) serves as a key paradigm and critical resource in other disorders.”

—Dr. Alex Mackenzie, Children’s Hospital of Eastern Ontario

SMA research offers a ‘collateral benefit’, meaning that scientific discoveries in the field of SMA will be strongly translational towards a host of other serious conditions; this also means that progress towards treating and curing spinal muscular atrophy will directly strengthen that same progress within numerous other medical categories. Advancements in the field of SMA research might therefore offer hope to not only members of the the SMA community, but also to the wide range of patients, families, and friends who have been affected by many other serious illnesses.

Among the diseases and disorders that benefit from SMA research:

Tay-Sachs Sandhoff

Menkes

X-Linked Andrenoleukodystrophy (ALD)

Duchenne Muscular Dystrophy

Myotonic Dystrophy

Deafness/Dystonia

Infantile and Late-Onset forms of Neuronal Ceroid Lipofuscinosis

Classic Late Infantine Neuronal Ceroid Lipofuscinosis (LINCL, CLN2)

Late Infantile Neuronal Ceroid Lipofuscinosis, LINCL

GM2A (AB Variant of GM2 Gangliosidosis)

Gaucher Disease

Sialidosis and Galactosia-Lidosis

Late Infantile Metachromatic Leukodystrophy

Machado-Joseph

Spinocerebellar ataxia type 1 (olivopontocerebellar ataxia 1)

Spinocerebellar ataxia type 2/Episodic ataxia type 2

Spinocerebellar ataxia type 6

Spinocerebellar ataxia type 7 (olivopontocerebellar atrophy with retinal degeneration)

Friedreich’s ataxia

Types A and B Niemann-Pick Disease (NPD)

Fragile X

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Please visit our YouTube channel; listen to more that Dr. MacKenzie has to say about translational research here and here.