Baltimore, May 3, 2009 — Two scientists whose work has led to new and better ways to diagnose and potentially treat muscular dystrophy have been chosen to receive the 2009 March of Dimes Prize in Developmental Biology.

Kevin P. Campbell, Ph.D. and Louis M. Kunkel, Ph.D., will share the 2009 March of Dimes Prize for their pioneering work identifying the genes and proteins that cause muscular dystrophy, a disorder in which the muscles progressively degenerate. More than 250,000 Americans are affected by the nine forms of muscular dystrophy and other related neuromuscular disorders. Among this group are facioscapulohumeral muscular dystrophy and limb girdle muscular dystrophy, as well as childhood conditions such as Duchenne and Becker muscular dystrophies and congenital muscular dystrophy.

The March of Dimes Prize is a $250,000 cash award and a silver medal in the design of the Roosevelt dime, in honor of President Franklin Delano Roosevelt, who founded the March of Dimes. The Prize will be awarded to Dr. Campbell and Dr. Kunkel at a gala black tie dinner and ceremony at the InterContinental Harbor Court here. CBS sportscaster Greg Gumbel, member of the March of Dimes national Honorary Board of Trustees, will host the ceremony.

“Dr. Campbell and Dr. Kunkel have provided crucial insights into how muscular dystrophies develop — the critical step needed to develop diagnostic tools and potential treatments,” said Michael Katz, MD, senior vice president for Research and Global Programs at the March of Dimes.

“Based on their pioneering research, physicians all over the world now are better able to help families and children affected by these disorders. Currently, there are several promising clinical trials of new treatments in progress based on the achievements of these two scientists,” Dr. Katz continued.

Dr. Campbell, a Howard Hughes Medical Institute investigator, is professor and head of Molecular Physiology and Biophysics at the University of Iowa Roy J. and Lucille A. Carver College of Medicine. He is also the Roy J. Carver Chair of Molecular Physiology and Biophysics and Director of the Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center. His work unraveled the molecular mechanisms of muscular dystrophies.

Dr. Kunkel, also a Howard Hughes Medical Investigator, is professor of Pediatrics and Genetics at Harvard Medical School as well as Director of the Program in Genomics at The Children’s Hospital in Boston, Massachusetts. More than 20 years ago, Dr. Kunkel identified dystrophin, the gene encoding the protein that is altered in boys with Duchenne and Becker forms of muscular dystrophy. The March of Dimes Prize in Developmental Biology has been awarded annually since 1996 to investigators whose research has profoundly advanced the science that underlies the understanding of birth defects. The March of Dimes Foundation created the Prize as a tribute to Dr. Jonas Salk, who received Foundation support for his work to create a polio vaccine.

Also on May 3, Dr. Campbell and Dr. Kunkel will deliver the Fourteenth Annual March of Dimes Prize Lectures at the Baltimore Convention Center during the 2009 Annual Meeting of the Pediatric Academic Societies.

The March of Dimes is the leading nonprofit organization for pregnancy and baby health. With chapters nationwide and its premier event, March for Babies®, the March of Dimes works to improve the health of babies by preventing birth defects, premature birth and infant mortality. For the latest resources and information, visit marchofdimes.com or nacersano.org.

Source: March Of Dimes

April 1, 2009 Wellstone MD CRC publishes its first paper in Proceedings National Academy of Sciences – “Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers”

Proc Natl Acad Sci U S A. 2009 Apr 14;106(15):6220-5. Epub 2009 Apr 1. Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers.

Arashiro P, Eisenberg I, Kho AT, Cerqueira AM, Canovas M, Silva HC, Pavanello RC, Verjovski-Almeida S, Kunkel LM, Zatz M.

Human Genome Research Center, Department of Genetics and Evolutive Biology, Institute of Biosciences, University of São Paulo, 05508-090, São Paulo, Brazil.

Facioscapulohumeral muscular dystrophy (FSHD) is a progressive muscle disorder that has been associated with a contraction of 3.3-kb repeats on chromosome 4q35. FSHD is characterized by a wide clinical inter- and intrafamilial variability, ranging from wheelchair-bound patients to asymptomatic carriers. Our study is unique in comparing the gene expression profiles from related affected, asymptomatic carrier, and control individuals. Our results suggest that the expression of genes on chromosome 4q is altered in affected and asymptomatic individuals. Remarkably, the changes seen in asymptomatic samples are largely in products of genes encoding several chemokines, whereas the changes seen in affected samples are largely in genes governing the synthesis of GPI-linked proteins and histone acetylation. Besides this, the affected patient and related asymptomatic carrier share the 4qA161 haplotype. Thus, these polymorphisms by themselves do not explain the pathogenicity of the contracted allele. Interestingly, our results also suggest that the miRNAs might mediate the regulatory network in FSHD. Together, our results support the previous evidence that FSHD may be caused by transcriptional dysregulation of multiple genes, in cis and in trans, and suggest some factors potentially important for FSHD pathogenesis. The study of the gene expression profiles from asymptomatic carriers and related affected patients is a unique approach to try to enhance our understanding of the missing link between the contraction in D4Z4 repeats and muscle disease, while minimizing the effects of differences resulting from genetic background.

PMID: 19339494 [PubMed - in process]

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