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Louis KunkelView profile

Professor

• Genetics
• Genomics
• Neuromuscular Disorders
• +4 more

Dr. Louis Kunkel is a Professor of Genetics and Pediatrics at Harvard Medical School and Director of the Genomics Program at Boston Children's Hospital. He is an internationally recognized leader in muscular dystrophy research, renowned for discovering the dystrophin gene in 1986 and advancing therapies for neuromuscular disorders. Education: B.A., Gettysburg College; Ph.D., Johns Hopkins University Research Interests : Dr. Kunkel’s work focuses on the molecular basis of muscular dystrophies (DMD, FSHD, LGMD) using mouse and zebrafish models. His lab investigates genetic modifiers (e.g., Jagged1, DUX4), microRNA regulation (miR-486), and small molecule therapies through CRISPR-Cas9 screens and drug discovery pipelines. Publication Trends : Recent articles highlight therapeutic targets for dystrophin-deficient models, genetic modifiers in animal models, and diagnostic innovations via long-read sequencing. Subfields span DMD, FSHD, metabolic pathways, RNA processing, and translational assays. Scientific Awards : March of Dimes Prize in Developmental Biology (2009) Member, National Academy of Sciences Member, American Academy of Arts and Sciences Students & Collaborations : Former students include Anthony Monaco and Steve Boyden. Collaborations with Pfizer and global institutions (e.g., São Paulo, Lille) drive multidisciplinary projects in drug discovery and functional genomics. Labs & Teams : The Kunkel Laboratory at Boston Children’s Hospital integrates zebrafish and mouse models, iPSC-derived muscle tissues, and genomic sequencing to develop therapies. Current team members include Elicia Estrella (Genetic Counselor), Jeffrey Widrick (Muscle Physiology), and Matthias Lambert (Pharmacology).

Michael LopezView profile

Assistant Professor

• Muscular Dystrophy
• Skeletal Muscle Biology
• DOCK3 Protein Function
• +5 more

Michael Lopez, PhD is an Assistant Professor in the Department of Neurology at the University of California, Irvine School of Medicine. His research focuses on the molecular mechanisms underlying neuromuscular disorders, particularly related to DOCK3 protein function and skeletal muscle biology. Dr. Lopez's research interests include: Muscular Dystrophy pathophysiology and potential therapeutic targets DOCK3 protein function in cell migration, fusion, and viability Skeletal muscle regeneration and glucose metabolism Neurodevelopmental disorders associated with DOCK family proteins Molecular genetics of neuromuscular diseases miR-486/DOCK3 signaling cascade in dystrophin-deficient muscle Analysis of Dr. Lopez's publication record reveals a strong focus on the nuanced role of DOCK3 in muscle health - where partial reduction improves dystrophic symptoms while complete loss worsens muscle function. His work spans from basic molecular mechanisms to potential therapeutic applications, with significant contributions to understanding the connection between skeletal muscle function and neurological outcomes. Key research areas include myoblast fusion mechanisms, muscle regeneration pathways, and the therapeutic potential of targeting the miR-486/DOCK3 axis in muscular dystrophy. Dr. Lopez has received research support from multiple NIH grants including R01 HD095897, R21 AR074006, and F99 NS118718, indicating strong institutional support for his research program in neuromuscular disorders and developmental biology.