The Mendell Lab is devoted to the development of potential treatments for neuromuscular diseases including Duchenne muscular dystrophy (DMD) and limb-girdle muscular dystrophy (LGMD). DMD causes progressive muscle weakness that usually confines patients to a wheelchair in their early teens. Limb girdle muscular dystrophies are a group of at least 13 diseases classified by their disease causing genes. It causes loss of muscle mass and strength in voluntary muscles, mainly those around the hips and shoulders. These diseases are caused by genetic defects that lead to missing or non-functional proteins. This makes gene replacement or gene therapy a good treatment option for these diseases. Our major research goal is successful gene therapy, by replacing genes for DMD and LGMD using adeno-associated virus (AAV) vectors to carry a copy of the corrected gene to the muscle cells. In some instances such as the dystrophin gene (the largest gene identified) “mini” and “micro” genes must be used. This can be done by direct injection into muscle (IM) or by way of the blood stream (vascular delivery). Muscular dystrophhy can also be treated with follistaitn by way of IM injection with adeno-associated virus (AAV) vectors to carry the follistaitn gene in IBM and BMD. It inhibits myostatin promoting muscle growth and preventing deterioration of existing muscle. Another therapeutic approach is exon skipping, treating primarily DMD, using synthetic molecules that induce skipping or read-through of the damaged portion of the dystrophin gene. This is a mutation specific treatment with each molecule designed to skip a certain exon(s). This leads to restoration of the reading frame and production of an internally truncated partiallly functional dystrophin protein.

In addition to developing potential treatments for neuromuscular diseases, the Mendell laboratory also concentrates on the diagnosis and characterization neuromusclar diseases. The Mendell lab also serves as the diagnostic lab of muscle biopsies for the Anatomic Pathology Dept of Nationwide Children’s Hospital. We are currently conducting a newborn screening study for DMD with The Research Institute at Nationwide Children's Hospital and Cincinnati Children's Hospital to identify possible cases in young males in the state of Ohio.  The lab also has the resources of the United Dystrophinopathy Project (UDP) available for genetic screening and characterization of dystrophinopathies that cause DMD.  The UDP directly sequences the coding and regulatory regions of the dystrophin gene, leading to faster and more specific characterization of mutations of many dystrophinopathy patients. The Mendell lab also has resources here at NCH to identify and sequence other genes that cause muscular dystrophies.

Dept of Neurology, The Ohio State University, Kurtz Professor

Dept of Pathology, The Ohio State University, Professor

Dept of Neurology, The Ohio State University, Chair 

Dr. Mendell was the first person to perform gene therapy for muscular dystrophy. He is currently conducting a limb girdle muscular dystrophy (LGMD2D) for gene therapy study.   In 2004 he was the recipient of the highest honor that MDA bestows on physicians and scientists for contributions to muscular dystrophy research (Scientic Acheivement Award).  In 2005 he received honary lifetime membership in the American Association of Neuromuscular Diease and Electromyography for outstanding contributions to the field of muscular dystrophy.  In 2006, he was recognized by the American Academy of Neurology for clinical and scientific contributions and asked to speak to the 5000 members of this prestigious organization. He currently serves as Director of the Center for Gene Therapy at The Research Institute at Nationwide Children's Hospital and holds Professorships in Neurology, Pediatrics, and Pathology at the Ohio State University.  Dr. Mendell has also received the 2009 University Distinguished Scholar Award from the Department of Research at The Ohio State University. The Distinguished Scholar Award, established in 1978, recognizes exceptional scholarly accomplishments by senior professors who have compiled a substantial body of research. 

King WM, Ruttencutter R, Nagaraja HN, Matkovic V, Landoll J, Hoyle C, Mendell JR, Kissel JT. Orthopedic outcomes of long-term daily corticosteroid treatment in Duchenne muscular dystrophy. Neurology. 2007 May 8;68(19):1607-13.

Rodino-Klapac L, Chicoine L, Kaspar B, Mendell JR. Gene Therapy for Duchenne Muscular Dystrophy: Expectations and Challenges. Arch Neurol. 2007 Sep;64(9):1236-41.

Rodino-Klapac L, Janssen PML, Montgomery CL, Coley BD, Chicoine LG, Clark KR, Mendell JR. A Translational Approach for Limb Vascular Delivery of the Micro-dystrophin Gene without High Volume or High Pressure for Treatment of Duchenne Muscular Dystrophy.  J Transl Med. 2007 Sep 24;5:45.