Dr. M. Carrie Miceli graduated with a BA in Biochemistry and Cell Biology from UCSD. She earned her Ph.D. in Immunology from Duke University for studies elucidating T cell mechanisms of human kidney allograft rejection. Her postdoctoral work at Stanford focused on the molecular basis of T cell antigen recognition and signaling, characterizing roles for CD8, CD4 and Lck in T cell receptor signaling. Since her faculty appointment at UCLA in 1993, her lab has investigated the cellular and molecular basis of T cell immunity. In addition to dissecting molecular mechanisms of T cell activation, tolerance and fate, her research has had broad relevance to cell biology and signal transduction. Recently, she has developed an interest in the role of inflammation in Duchenne Muscular Dystrophy with Dr. Spencer. In 2005, together with Dr. Nelson, Dr. Miceli developed a program designing and implementing cellular assays for high throughput small molecule screening for DMD-drug discovery. She served as a PI/Co-PI on DOD, NIH and CIRM grants aimed at identifying enhancers of DMD exon skipping; resulting in the discovery of compounds that synergizes with anti-sense oligonucleotide mediated DMD exon skipping, award of a provisional patent, licensing negotiations and collaborations with several biotech companies. She directs the High Throughput Screening and Muscular Dystrophy Cell Models Repository Core, which expands banks, distributes and reprograms DMD patient fibroblasts for use in drug development, and serves on the Administrative Core for the NIH funded P30 Muscular Dystrophy Core Center. Dr. Miceli is a Scientific Advisor for PPMD, CureDuchenne, Imaging DMD and the Lily DMD Tadalifil Phase II Clinical Trial and is on the Data and Safety Monitoring Board for the BMD/sIBM Follistatin Gene Transfer Clinical Trial. She reviews grants for PPMD, Dutch-PPMD, NIH and DOD. She has chaired the congressionally mandated DOD DMD study section and both annual PPMD and Duchenne Parent Project Italy Scientific Sessions. She serves as a Vice Chair of Microbiology, Immunology and Molecular Genetics.
In 2007, Drs. M. Carrie Miceli, Melissa Spencer, and Nelson launched the Center for Duchenne Muscular Dystrophy at UCLAto improve education, accelerate research and promote translation into clinic for the most common lethal genetic disease of childhood. This multidisciplinary effort has transformed research approaches on campus, providing essential seed grants and an intellectual environment to facilitate progress. The CDMD has organized the first multidiscliplinary care clinic for Duchenne in Southern California, documented to extend lifespan by 10 years and dramatically improve quality of life. The Center is now participating in multiple clinical trials for Duchenne, both serving as a site for CDMD investigator initiated trials as well as participating in multi-center clinical trials sponsored by industry and other academic institutions. Since the first funding of the CDMD Core Center in 2009, the Center has successfully expanded the number of multidisciplinary collaborations focused on muscular dystrophy research and accelerated the discovery and testing of potential therapeutics, with 13 laboratories now focused on Duchenne. At the center of the research accomplishments is the collaborative efforts of Drs. Miceli, Nelson and Spencer’s laboratories to identify enhancers of exon skipping to restore reading frame and a partially functional dystrophin protein. This work was published in Science Translational Medicine in December 2012, featured on the cover with commentary in Science, and was selected by the Director of NIAMS as a research highlight. With funding from the California Institute of Regenerative Medicine, they are now moving combination therapy for exon skipping toward clinical development repair mutant mRNA in situ. This collaborative research endeavor exemplifies the CDMD mission of using basic discovery to identify therapeutic targets, screen for drugs and develop them for human clinical trial in DMD. There are a number of therapeutic strategies poised to translate from the bench into clinic for Duchenne, and the CDMD is committed to facilitating their development. This creates exciting research opportunities on campus, in partnership with biotechnology firms, and in collaboration with extramural researchers. The CDMD facilitates activities on campus through an interdepartmental and inter-institutional approach to bring researchers together through a pilot and feasibility program, bi-weekly seminar series, establishment of a new PhD training program, establishment of cores to facilitate study of muscular dystrophy.
Drs Miceli and Nelson were motivated to re-focus their laboratories around DMD discovery and drug development upon the diagnosis of their youngest son with Duchenne Muscular Dystrophy in 2004.
Dr. Stanley Nelson
Dr. Stanley Nelson received his BS in Physics with honors from the University of Michigan, and was inducted into Phi Beta Kappa. He graduated from Duke University School of Medicine, and performed Pediatric residency and Pediatric Hematology-Oncology fellowship training at UCSF. He was a postdoctoral fellow of Dr. Patrick Brown, developing Genomic Mismatch Scanning and microarray technology at Stanford Univeristy before taking a faculty position at UCLA in 1993. On faculty at UCLA, currently within the Departments of Human Genetics, Pathology and Laboratory Medicine, and Psychiatry, Dr. Nelson’s laboratory has developed genomic technology and applied genomics towards the study of human diseases. His projects use genome-wide linkage, linkage disequilibrium, association, and sequencing approaches as well as gene expression data to identify individual gene contributions to both Mendelian and common human disorders. All of these projects require a host of integrated bioinformatics approaches. He is co-author of 199 research papers, and has been continuously funded from the NIH. He established the UCLA DNA Microarray Facility and heads the Genomics/Bioinformatics Core for muscular dystrophy. Recently, he established the Clinical Genomics Center and launched Clinical Exome Sequencing as a diagnostic service at UCLA for rare Mendelian genetic diseases, which recently completed the 1,000th Clinical Exome and is one of the first academic medical centers to offer this service. In 2005, together with Dr. Miceli, Dr. Nelson developed a program designing and implementing cellular assays for high throughput small molecule screening for DMD-drug discovery. Dr. Nelson has advised on the creation of Duchenne Connect, the largest registry of Duchenne patients in the world, and is leading the analysis of these data to determine therapeutic benefit of off-label drug use, and identify genetic modifiers of disease progression. Additionally, Dr. Nelson serves as Vice Chair of the Department of Human Genetics, as a scientific advisor for CureDuchenne, UPENN Rare Disease Institute, 23andMe, and reviews grant proposals for the DOD, Dutch PPMD, Telethon, MDA and NIH.
Dr. Melissa Spencer
Dr. Melissa Spencer is a Professor of Neurology at UCLA. Dr. Spencer’s research expertise is in the area of pathogenesis of muscular dystrophy using genetically modified mouse models. She has had a career long interest in pathogenesis of muscular dystrophy (DMD and LGMD) and has extensive experience in generating and phenotyping genetically modified mouse models (transgenic, knock out and knock in models). A particular strength of the Spencer lab is the longitudinal and multidisciplinary approach used to study these muscular dystrophies that ranges from the generation of genetically modified mice to use of biochemical, cell biological, immunological and functional approaches for analyzing phenotypic outcomes. One of these studies was carried into two clinical trials at UCLA, in which Dr. Spencer was the principal investigator, with Dr. Fowler who was a co-investigator; thus, the researchers at the UCLA MDCRC are truly performing "bench-to-bedside translational research". Dr. Spencer was the recipient of a PECASE (Presidential Early Career Award For Scientists and Engineers) in 2001. She has participated in numerous NIH advisory committees including as a regular standing member of the SMEP study section and she is currently on the Scientific Advisory Committee for the Muscular Dystrophy Association. Dr. Spencer brings a strong translational research perspective to the Center for the application of HTS and Genomic approaches to muscular dystrophy research.
Dr. Nancy Halnon
Dr. Nancy Halnon has 13 years of experience in Pediatrics and Pediatric Cardiology. Graduated from top rated Boston University, she completed her fellowship at University of California at Los Angeles in 2002. Doctor Halnon is the Clinical Liaison for the CDMD. She is interested in development of therapies to slow cardiomyopathy in DMD.
Dr. Rachelle Crosbie-Watson holds a joint appointment as a Professor in the Department of Integrative Biology and Physiology and the Department of Neurology at UCLA. She is Chair of the M.S. graduate program in Physiological Science and is a Faculty Advisor for the Howard Hughes Undergraduate Research Scholars Program, Regents Scholars Program, and the Beckman Undergraduate Research Scholars Program. She served as Vice-Chair for Integrative Biology and Physiology (2009-2010). Dr. Crosbie-Watson has created a course at UCLA using a new teaching format that is focused entirely on mechanisms and therapies for Duchenne muscular dystrophy. In 2013, Dr. Crosbie-Watson received the “UCLA Distinguished Teaching Award”, which is a campus-wide recognition of her contributions to education. As Education Liaison, Dr. Crosbie-Watson is developing a graduate program focused on Muscle Cell Biology with an emphasis on translational research. Dr. Crosbie-Watson has expertise on structure and function of the dystrophin- and utrophin-glycoprotein complexes. Her research has revealed novel and unexpected targets in the disease pathway of Duchenne muscular dystrophy. Dr. Crosbie-Watson discovered that introduction of the sarcospan gene into muscles prevents disease in animal models of muscular dystrophy. She is currently translating these preclinical data using a gene therapy approach. She brings knowledge and experience in muscle cell biology to the Executive Committee, and she is a liaison between the graduate training programs on campus and Center activities.