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Louis M. Kunkel, PhD

Professor of Pediatrics and Genetics
Harvard Medical School
77 Avenue Louis Pasteur
Boston, Massachusetts, United States

Dr. Louis M. Kunkel is an internationally recognized geneticist with years of experience and scientific success in the understanding of the basis for muscular dystrophies. He is universally recognized for the discovery of dystrophin encoding gene, which is mutated in boys with Duchenne/Becker muscular dystrophy, in 1986-1987. Since that time, members of his laboratory have been responsible for the identification and characterization of more than 15 dystrophin-related or dystrophin-associated genes and their protein products.

Dr. Kunkel currently holds appointments as Director of the Program in Genomics at Children’s Hospital Boston; and Professor of Pediatrics and Genetics, Harvard Medical School, Boston. He is also Director of the Sequencing/Genotyping, Expression Array and FACS Sorting Core Facilities at Children’s Hospital Boston where he is initiating a program to collect available clinical and environmental information on all children seen at Children’s Hospital Boston. He has been a member of the Muscular Dystrophy Association (MDA) Scientific Advisory Committee for 15 years, and is now the chair of the committee.

Dr. Kunkel holds authorship of 213 journal articles and 20 book chapters. He is recipient of more than 20 awards and honours for his scientific leadership and achievement including memberships in prestigious academies such as National Academy of Sciences and the American Academy of Arts and Sciences.


Representative Publications:

Repression of phosphatidylinositol transfer protein α ameliorates the pathology of Duchenne muscular dystrophy

Muscle dysfunction in a zebrafish model of Duchenne muscular dystrophy

Pharmacological therapeutics targeting the secondary defects and downstream pathology of Duchenne muscular dystrophy

Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype

The Pathogenesis and Therapy of Muscular Dystrophies