P50HD117373

MDSRC for Next Directions in Muscular Dystrophy Research - Abstract

The Center for Gene Therapy at the Abigail Wexner Research Institute of Nationwide Children’s Hospital (NCH) hosts a robust and active research community in the muscular dystrophies, with extensive expertise in unraveling disease pathogenesis and developing new treatment paradigms that can be translated from the bench to the bedside.

We propose an MDSRC with cores designed to share this expertise with the Wellstone and broader muscular dystrophy research communities, with projects intended to address questions raised or left unanswered by current therapies, such as microdystrophin gene therapy.

Project 1 (PI, Paul Martin, PhD) seeks to utilize a novel bicistronic AAV vector to both prevent muscle disease and simultaneously build new muscle function in muscular dystrophy patients with limb girdle muscular dystrophy 2I (LGMD2I).

Project 2 (PI, Kevin Flanigan, MD) will develop vectors containing U7 small nuclear RNAs (U7snrnas) reprogrammed with antisense sequences directed toward splice site or splice enhance elements to restore highly functional dystrophin expression.

Project 3 (PI, Nizar Saad, PhD) seeks to identify novel circulating biomarkers through the investigation of circulating extracellular vesicles (EVs) and to develop a new generation of gene therapy that increases transduction efficiency, dystrophin expression, and reduces the development of humoral immunity against AAV gene therapies.

All three projects make use of the critical resource core, the Muscular Dystrophy Cell and Serum Banking Core (Director, Nicolas Wein, PhD) by establishing primary fibroblasts from patients with muscular dystrophies, a critical resource for early therapy development, while collaborating with Penny Gilbert, PhD, at the University of Toronto, to develop improved protocols leading to superior reagents for center projects.

We have a longstanding dedication to serving as a national training resource, as demonstrated by our Myology course, held annually since 2012, and our training core (Director, Scott Harper) will expand the number of attendees and the range of topics covered in the course, offer individualized career development guidance to Wellstone Fellowship trainees, and develop new curricula of benefit to the community.

Our administrative core will implement a meaningful community outreach program and develop a highly functional MDSRC website to provide access to the muscular dystrophy community.

Altogether, our longstanding efforts and the highly collaborative multidisciplinary environment of our two institutions will be synergized by an MDSRC that leverages existing structures and collaborations, and develops outward-facing resources of benefit to the broader Wellstone and muscular dystrophy research communities.

Research Institute At Nationwide Children's Hospital

TO CONDUCT AND SUPPORT LABORATORY RESEARCH, CLINICAL TRIALS, AND STUDIES WITH PEOPLE THAT EXPLORE HEALTH PROCESSES. NICHD RESEARCHERS EXAMINE GROWTH AND DEVELOPMENT, BIOLOGIC AND REPRODUCTIVE FUNCTIONS, BEHAVIOR PATTERNS, AND POPULATION DYNAMICS TO PROTECT AND MAINTAIN THE HEALTH OF ALL PEOPLE. TO EXAMINE THE IMPACT OF DISABILITIES, DISEASES, AND DEFECTS ON THE LIVES OF INDIVIDUALS. WITH THIS INFORMATION, THE NICHD HOPES TO RESTORE, INCREASE, AND MAXIMIZE THE CAPABILITIES OF PEOPLE AFFECTED BY DISEASE AND INJURY. TO SPONSOR TRAINING PROGRAMS FOR SCIENTISTS, DOCTORS, AND RESEARCHERS TO ENSURE THAT NICHD RESEARCH CAN CONTINUE. BY TRAINING THESE PROFESSIONALS IN THE LATEST RESEARCH METHODS AND TECHNOLOGIES, THE NICHD WILL BE ABLE TO CONDUCT ITS RESEARCH AND MAKE HEALTH RESEARCH PROGRESS UNTIL ALL CHILDREN, ADULTS, FAMILIES, AND POPULATIONS ENJOY GOOD HEALTH. THE MISSION OF THE NICHD IS TO ENSURE THAT EVERY PERSON IS BORN HEALTHY AND WANTED, THAT WOMEN SUFFER NO HARMFUL EFFECTS FROM REPRODUCTIVE PROCESSES, AND THAT ALL CHILDREN HAVE THE CHANCE TO ACHIEVE THEIR FULL POTENTIAL FOR HEALTHY AND PRODUCTIVE LIVES, FREE FROM DISEASE OR DISABILITY, AND TO ENSURE THE HEALTH, PRODUCTIVITY, INDEPENDENCE, AND WELL-BEING OF ALL PEOPLE THROUGH OPTIMAL REHABILITATION.

93.865 - Child Health and Human Development Extramural Research

National Institute of Child Health and Human Development (NICHD) [HHS - NIH]

Columbus, Ohio 432052664 United States

Single Zip Code

Senator Paul D. Wellstone Muscular Dystrophy Specialized Research Centers (MDSRC) (P50 Clinical Trial Optional) (RFA-NS-23-032)

Amendment Since initial award the total obligations have increased 97% from $1,557,819 to $3,071,467.