Chicago - Northwestern University

Vincent L. Cryns, M.D.
(RG)	Role of desmin proteolysis in muscle cell death
$ 54,000.00	7/1/99 - 6/30/00	Year 1
$ 56,646.00	7/1/00 - 6/30/01	Year 2
$ 59,424.00	7/1/01 - 6/30/02	Year 3

Summary: Researchers will examine how the breakdown of the muscle structural protein desmin contributes to the abnormal muscle cell death that occurs in many neuromuscular degenerative diseases.

Karim Ouahchi, M.D.
(DG)	Identification of the gene responsible for recessive 
amyotrophic lateral sclerosis (ALS).
$ 35,000.00	1/1/00 - 12/31/00	Year 2
$ 35,000.00	1/1/01 - 12/31/01	Year 3

Summary: The aim of this proposal is to search for the defective gene responsible for one form of ALS.

Teepu Siddique, M.D.
(RG)	Molecular genetic studies in myasthenia gravis (MG)
$ 50,000.00	7/1/99 - 6/30/00	Year 2
$ 50,000.00	7/1/00 - 6/30/01	Year 3

Summary: Researchers will investigate the genetic defects in MG and congenital myasthenic syndromes.

Chicago - University of Chicago

Elizabeth McNally, M.D., Ph.D.
(RG)	Cytoskeletal membrane interactions in muscular dystrophy
$ 70,790.00	7/1/99 - 6/30/00	Year 3

Summary: Researchers will study proteins that are known or suspected to be defective in muscular dystrophy to better understand how these abnormalities weaken muscle.

Springfield - Southern Illinois University

Virginia Kimonis, M.D., MRCP
(RG)	Identification of gene mutation in 
Charcot-Marie-Tooth (CMT) and deafness
$ 60,000.00	1/1/00 - 12/31/00	Year 2

Summary: CMT with deafness is an unusual form of CMT. Researchers have mapped the gene to chromosome 17p however, have not found the duplication or mutations in the PMP-22 gene associated with the common type of CMT1A. A novel mutation or gene probably causes the disease in this family.

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