Louis M. Kunkel, PhD

HSCI Alumni: Louis M. Kunkel, PhD

Boston Children's Hospital
Harvard Medical School
Louis M. Kunkel, PhD

The muscular dystrophies are progressive disorders of striated muscle leading to breakdown of muscle integrity. Underlying this clinical presentation there is considerable genetic heterogeneity with the X-chromosomal recessive Duchenne and Becker forms comprising the majority of patients, and the related limb girdle muscular dystrophies (LGMD) being caused by an additional 10 different genetic loci. Much has been learned over the last 12 years about the molecular defects associated with the muscular dystrophies, beginning with the identification of dystrophin as the protein altered in Duchenne/Becker muscular dystrophy. Dystrophin has since been shown to be part of a complex of proteins at the muscle cell membrane known as the dystrophin associated protein (DAP) complex. Five other protein members of this complex are themselves encoded by genes that are disrupted in LGMD patients. The exact mechanism by which the muscle cell undergoes degeneration when this complex is disturbed is unknown. To date there is no known way to halt the muscle cell degeneration when this complex is perturbed, although animal studies have shown that introduction of the normal gene into diseased muscle is corrective for the problem. We continue our two broad areas of research to address the pathogenesis and treatment of the muscular dystrophies. The first is a continuation of our efforts to unravel the normal function of the dystrophin associated protein complex and why alteration of genes encoding members of the complex causes the phenotype of muscular dystrophy. The second is our continuing effort to develop a stem cell-based therapy for treatment of patients with muscular dystrophy. Both broad areas are driven by our hope to be curative for the muscular dystrophies.


Dr. Kunkel is an internationally recognized geneticist with years of experience and scientific success in the understanding of the basis for muscular dystrophies. He received a B.A. from Gettysburg College and his Ph.D. from Johns Hopkins University. Over the past three decades Dr. Kunkel has devoted his career to understanding the molecular basis, and developing therapy, for neuromuscular disorders. Dr. Kunkel is universally recognized for the identification of the gene and encoded protein, dystrophin, 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, and have discovered that mutations in three of these genes cause limb-girdle muscular dystrophy.  Dr. Kunkel is the Director of the Genomics Program and is initiating a program to collect available clinical and environmental information on all children seen at Children's Hospital Boston, entitled The Gene Partnership.  This database will provide a vital resource for examining the role of genetic factors, and the interaction of genes with the environment, in the development of common, multifactorial traits and diseases such as autism.  Dr. Kunkel has authored 213 journal articles and 20 book chapters.  He has received 22 awards and honors for scientific leadership and achievement including memberships in the National Academy of Sciences and the American Academy of Arts and Sciences, The Gairdner Foundation International Award 1989, Silvio O. Conte decade of Brain Award 1991, the Muscular Dystrophy Association’s S. Mouchly Small Scientific Achievement Award 1999, and the William Allan Award for distinguished service in human genetics in 2004.  In 2009 he was awarded the March of Dimes Prize in Developmental Biology for his seminal contributions to the development of positional cloning and its application to the discovery of deletions spanning the Duchenne muscular dystrophy locus, which has made possible precise diagnosis of this disease spectrum and has opened the way to new treatments. He has been a member of the MDA Scientific Advisory Committee for 15 years, and is now the chair of the committee.

As the Director of the Genomics Program, Dr. Kunkel leads a team of full, associate and assistant professors, pre- and post-doctoral fellows, students, genetic counselors, and technicians who are supported by NIH and other private organizations.  Monies from these funds have been carefully spent on salaries, reagents, and capital equipment, including the Affymetrix and Illumina-expression array, real time PCR, and sequencing/genotyping equipment that are essential to our muscular dystrophy research.  Dr. Kunkel is personally involved in each project in his own laboratory, which helps to assure the fulfillment of his scientific objectives.  He leads insightful group discussion of one project every week in lab meetings, and spends significant time and energy working one-on-one with members of his laboratory.  This commitment to developing new scientists is reflected in not only the 28 pre- and post-doctoral students that he has trained, but also in the success of many others.

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.


Research Interest(s)


HSCI Status